Database PRF1base
Version 1.11
File prf1pub.txt
Date 13-May-2013
Curator Mauno Vihinen
Address Protein Structure and Bioinformatics
Address Lund University, BMC D10, SE-22184 Lund, Sweden
Phone +46 72 526 0022
Fax +46 46 222 9328
Email Mauno Vihinen
URL http://structure.bmc.lu.se/idbase/PRF1base/
IDR factfile http://structure.bmc.lu.se/idbase/IDRefSeq/xml/idr/ff/FF105.html
Gene PRF1
Disease Familial haemophagocytic lymphohistiocytosis (FHL2)
OMIM 170280
GDB 118853
Sequence IDRefSeq:D0067; IDRefSeq:C0067; UniProt:P14222
Numbering start of the entry
Funding Tampere University Hospital Medical Research Fund
Funding European Union
Comments sequence entry reference in every entry
//
ID M1I(1),D70Y(1); standard; MUTATION;
Accession P0061
Systematic name Allele 1: g.3276G>A, c.3G>A, r.3g>a, p.Met1Ile
Systematic name Allele 2: g.3481G>T, c.208G>T, r.208g>u, p.Asp70Tyr
Original code P58
Description Allele 1: a point mutation in the exon 2 leading to an
Description amino acid change
Description Allele 2: a point mutation in the exon 2 leading to an
Description amino acid change
Date 17-May-2004 (Rel. 1, Created)
Date 17-May-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 14757862
RefAuthors Molleran Lee, S., Villanueva, J., Sumegi, J., Zhang, K.,
RefAuthors Kogawa, K., Davis, J., Filipovich, A. H.
RefTitle Characterisation of diverse PRF1 mutations leading to
RefTitle decreased natural killer cell activity in north american
RefTitle families with haemophagocytic lymphohistiocytosis.
RefLoc J Med Genet 41:137-144 (2004)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0067: 3276
Feature /change: g -> a
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0067: 104
Feature /codon: atg -> ata; 3
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P14222; PERF_HUMAN: 1
Feature /change: M -> I
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0067: 3481
Feature /change: g -> t
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0067: 309
Feature /codon: gac -> tac; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: P14222; PERF_HUMAN: 70
Feature /change: D -> Y
Diagnosis FHL2
Sex XY
Age 8
Ethnic origin Caucasoid
//
ID M1I(2),M1I(2); standard; MUTATION;
Accession P0067
Systematic name Allele 1 and 2: g.3276G>A, c.3G>A, r.3g>a, p.Met1Ile
Original code Patient 30
Description Allele 1 and 2: a point mutation in the exon 2 leading to
Description an amino acid change
Date 07-Mar-2005 (Rel. 1, Created)
Date 07-Mar-2005 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12060139
RefAuthors Feldmann, J., Le Deist, F., Ouachee-Chardin, M., Certain,
RefAuthors S., Alexander, S., Quartier, P., Haddad, E., Wulffraat,
RefAuthors N., Casanova, J. L., Blanche, S., Fischer, A., de Saint
RefAuthors Basile, G.
RefTitle Functional consequences of perforin gene mutations in 22
RefTitle patients with familial haemophagocytic
RefTitle lymphohistiocytosis.
RefLoc Br J Haematol 117:965-972 (2002)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0067: 3276
Feature /change: g -> a
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0067: 104
Feature /codon: atg -> ata; 3
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P14222; PERF_HUMAN: 1
Feature /change: M -> I
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0067: 3276
Feature /change: g -> a
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0067: 104
Feature /codon: atg -> ata; 3
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: P14222; PERF_HUMAN: 1
Feature /change: M -> I
Diagnosis FHL2
Protein exp. not done
Ethnic origin Caucasoid; Lebanon
Parents Consanguineous
//
ID M1I(3),#D62X73(1); standard; MUTATION;
Accession P0097
Systematic name Allele 1: g.3276G>A, c.3G>A, r.3g>a, p.Met1Ile
Systematic name Allele 2: g.3458_3468delACACACAAAGG,
Systematic name c.185_195delACACACAAAGG, r.185_195delacacacaaagg,
Systematic name p.Asp62fsX12
Original code Patient 2
Description Allele 1: a point mutation in the exon 2 leading to an
Description amino acid change
Description Allele 2: a frame shift deletion in the exon 2 leading to a
Description premature stop codon
Date 05-Jun-2006 (Rel. 1, Created)
Date 05-Jun-2006 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 16278825
RefAuthors Zur Stadt, U., Beutel, K., Kolberg, S., Schneppenheim, R.,
RefAuthors Kabisch, H., Janka, G., Hennies, H. C.
RefTitle Mutation spectrum in children with primary hemophagocytic
RefTitle lymphohistiocytosis: molecular and functional analyses of
RefTitle PRF1, UNC13D, STX11, and RAB27A.
RefLoc Hum Mutat 27:62-68 (2006)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0067: 3276
Feature /change: g -> a
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0067: 104
Feature /codon: atg -> ata; 3
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P14222; PERF_HUMAN: 1
Feature /change: M -> I
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0067: 3458..3468
Feature /change: -acacacaaag g
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0067: 286..296
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14222; PERF_HUMAN: 62..65
Feature /change: DTQR -> VPAARRHLHP LX
Diagnosis FHL2
Ethnic origin Caucasoid; Germany
Parents Non-consanguineous
//
ID M1V(1),G317R(1); standard; MUTATION;
Accession P0032
Original code UPN26 ref. [2]
Systematic name Allele 1: g.3274A>G, c.102A>G, p.M1V
Systematic name Allele 2: g.5404G>A, c.1050G>A, p.G317R
Original code Patient 1
Description Allele 1: point mutation in the exon 2 leading to an amino
Description acid change
Description Allele 2: point mutation in the exon 3 leading to an amino
Description acid change
Date 26-Jun-2003 (Rel. 1, Created)
Date 13-May-2013 (Rel. 2, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 12716377
RefAuthors Ueda, I., Morimoto, A., Inaba, T., Yagi, T., Hibi, S.,
RefAuthors Sugimoto, T., Sako, M., Yanai, F., Fukushima, T.,
RefAuthors Nakayama, M., Ishii, E., Imashuku, S.
RefTitle Characteristic perforin gene mutations of haemophagocytic
RefTitle lymphohistiocytosis patients in japan.
RefLoc Br J Haematol 121:503-510 (2003)
RefNumber [2]
RefCrossRef PUBMED; 15632205
RefAuthors Ishii, E., Ueda, I., Shirakawa, R., Yamamoto, K.,
RefAuthors Horiuchi, H., Ohga, S., Furuno, K., Morimoto, A.,
RefAuthors Imayoshi, M., Ogata, Y., Zaitsu, M., Sako, M., Koike, K.,
RefAuthors Sakata, A., Takada, H., Hara, T., Imashuku, S., Sasazuki,
RefAuthors T., Yasukawa, M.
RefTitle Genetic subtypes of familial hemophagocytic
RefTitle lymphohistiocytosis: correlations with clinical features
RefTitle and cytotoxic T lymphocyte/natural killer cell functions.
RefLoc Blood 105:3442-3448 (2005)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0067: 3274
Feature /change: a -> g
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0067: 102
Feature /codon: atg -> gtg; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P14222; PERF_HUMAN: 1
Feature /change: M -> V
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0067: 5404
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0067: 1050
Feature /codon: ggg -> agg; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: P14222; PERF_HUMAN: 317
Feature /change: G -> R
Protein exp. complete lacking of intracellular perforin
Protein exp. expression (<1,0) in CD3+ and CD8+ cells
Sex XX
Age 11
Ethnic origin Mongoloid; Japan
Parents Non-consanguineous
Symptoms CNS alterations
Comment -!-Two siblings died of FHL in early infancy
//
ID R4H(1),?; standard; MUTATION;
Accession P0106
Systematic name Allele 1: g.3284G>A, c.11G>A, r.11g>a, p.Arg4His
Original code Patient E
Description Allele 1: A point mutation in the exon 2 leading to
Description an amino acid change
Date 21-May-2008 (Rel. 1, Created)
Date 21-May-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17311987
RefAuthors Solomou, E. E., Gibellini, F., Stewart, B., Malide, D.,
RefAuthors Berg, M., Visconte, V., Green, S., Childs, R., Chanock, S.
RefAuthors J., Young, N. S.
RefTitle Perforin gene mutations in patients with acquired aplastic
RefTitle anemia.
RefLoc Blood:5234-5237 (2007)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0067: 3284
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0067; GI:129819; PRF1C: 112
Feature /codon: cgt -> cat; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P14222; PERF_HUMAN: 4
Feature /change: R -> H
Diagnosis Familial haemophagocytic lymphohistiocytosis (FHL2)
Sex XY
Ethnic origin Negroid
Symptoms Hematological abnormalities
Symptoms Anemia
Symptoms Hemophagocytosis
//
ID #L17X50(1),#L17X50(1); standard; MUTATION;
Accession P0001
Systematic name Allele 1 and 2: g.3323delT, c.151delT, p.L17fsX50
Original code P4
Description Allele 1 and 2: deletion in the exon 2 leading to a
Description premature stop codon
Date 19-Jun-2003 (Rel. 1, Created)
Date 19-Jun-2003 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 10583959
RefAuthors Stepp, S. E., Dufourcq-Lagelouse, R., Le Deist, F.,
RefAuthors Bhawan, S., Certain, S., Mathew, P. A., Henter, J. I.,
RefAuthors Bennett, M., Fischer, A., de Saint Basile, G., Kumar, V.
RefTitle Perforin gene defects in familial hemophagocytic
RefTitle lymphohistiocytosis.
RefLoc Science 286:1957-1959 (1999)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0067: 3323
Feature /change: -t
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0067: 151
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14222; PERF_HUMAN: 17
Feature /change: L -> RPSLPRATQP HAQSASAATS SCLVHGWPGR VWTX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0067: 3323
Feature /change: -t
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0067: 151
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14222; PERF_HUMAN: 17
Feature /change: L -> RPSLPRATQP HAQSASAATS SCLVHGWPGR VWTX
Parents Consanguineous
//
ID #L17X50(2),#L17X50(2); standard; MUTATION;
Accession P0016
Systematic name Allele 1 and 2: g.3323delT, c.151delT, p.L17fsX50
Original code Case 1
Description Allele 1 and 2: deletion in the exon 2 leading to a
Description premature stop codon
Date 24-Jun-2003 (Rel. 1, Created)
Date 24-Jun-2003 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11565555
RefAuthors Clementi, R., zur Stadt, U., Savoldi, G., Varoitto, S.,
RefAuthors Conter, V., De Fusco, C., Notarangelo, L. D., Schneider,
RefAuthors M., Klersy, C., Janka, G., Danesino, C., Aricò, M.
RefTitle Six novel mutations in the PRF1 gene in children with
RefTitle haemophagocytic lymphohistiocytosis.
RefLoc J Med Genet 38:643-646 (2001)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0067: 3323
Feature /change: -t
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0067: 151
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14222; PERF_HUMAN: 17
Feature /change: L -> RPSLPRATQP HAQSASAATS SCLVHGWPGR VWTX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0067: 3323
Feature /change: -t
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0067: 151
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14222; PERF_HUMAN: 17
Feature /change: L -> RPSLPRATQP HAQSASAATS SCLVHGWPGR VWTX
Sex XY
Age 2 months
Ethnic origin Negroid; Ghana
Symptoms Hematological abnormalities
Symptoms Neutropenia
Symptoms Hypertriglyceridaemia
Symptoms Hypofibrinogenaemia
Symptoms Lymphadenomegaly
Symptoms Hepatosplenomegaly
Symptoms Fever
Symptoms CSF pleiocytosis
Symptoms Other clinical features: Absent NK activity
Haemoglobin 5.5 g/dl
Platelets 15 x1000/mm3
Treatment Bone marrow transplantation: Yes
Treatment Outcome: alive and well
Comment -!-asymptomatic 4+ mth after BMT
//
ID #L17X50(3),#L17X50(3); standard; MUTATION;
Accession P0039
Systematic name Allele 1 and 2: g.3323delT, c.50delT, r.50delu,
Systematic name p.Leu17fsX34
Original code P9
Description Allele 1 and 2: a frame shift deletion mutation in the exon
Description 2 leading to a premature stop codon
Date 13-May-2004 (Rel. 1, Created)
Date 13-May-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11756153
RefAuthors Kogawa, K., Lee, S. M., Villanueva, J., Marmer, D.,
RefAuthors Sumegi, J., Filipovich, A. H.
RefTitle Perforin expression in cytotoxic lymphocytes from patients
RefTitle with hemophagocytic lymphohistiocytosis and their family
RefTitle members.
RefLoc Blood 99:61-66 (2002)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0067: 3323
Feature /change: -t
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0067: 151
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14222; PERF_HUMAN: 17
Feature /change: L -> RPSLPRATQP HAQSASAATS SCLVHGWPGR VWTX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0067: 3323
Feature /change: -t
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0067: 151
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14222; PERF_HUMAN: 17
Feature /change: L -> RPSLPRATQP HAQSASAATS SCLVHGWPGR VWTX
Diagnosis FHL2
Protein exp. Lack of intracellular perforin in all cytotoxic cell types
Protein exp. (complete deficiency)
Sex XX
Age 3 mo
//
ID #L17X50(4),#L17X50(4); standard; MUTATION;
Accession P0040
Systematic name Allele 1 and 2: g.3323delT, c.50delT, r.50delu,
Systematic name p.Leu17fsX34
Original code P11
Description Allele 1 and 2: a frame shift deletion mutation in the exon
Description 2 leading to a premature stop codon
Date 13-May-2004 (Rel. 1, Created)
Date 13-May-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11756153
RefAuthors Kogawa, K., Lee, S. M., Villanueva, J., Marmer, D.,
RefAuthors Sumegi, J., Filipovich, A. H.
RefTitle Perforin expression in cytotoxic lymphocytes from patients
RefTitle with hemophagocytic lymphohistiocytosis and their family
RefTitle members.
RefLoc Blood 99:61-66 (2002)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0067: 3323
Feature /change: -t
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0067: 151
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14222; PERF_HUMAN: 17
Feature /change: L -> RPSLPRATQP HAQSASAATS SCLVHGWPGR VWTX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0067: 3323
Feature /change: -t
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0067: 151
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14222; PERF_HUMAN: 17
Feature /change: L -> RPSLPRATQP HAQSASAATS SCLVHGWPGR VWTX
Diagnosis FHL2
Protein exp. Lack of intracellular perforin in all cytotoxic cell types
Protein exp. (complete deficiency)
Sex XY
Age 8 mo
//
ID #L17X50(5),#L17X50(5); standard; MUTATION;
Accession P0044
Systematic name Allele 1 and 2: g.3323delT, c.50delT, r.50delu,
Systematic name p.Leu17fsX34
Original code P21
Description Allele 1 and 2: a frame shift deletion mutation in the exon
Description 2 leading to a premature stop codon
Date 14-May-2004 (Rel. 1, Created)
Date 14-May-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 14757862
RefAuthors Molleran Lee, S., Villanueva, J., Sumegi, J., Zhang, K.,
RefAuthors Kogawa, K., Davis, J., Filipovich, A. H.
RefTitle Characterisation of diverse PRF1 mutations leading to
RefTitle decreased natural killer cell activity in north american
RefTitle families with haemophagocytic lymphohistiocytosis.
RefLoc J Med Genet 41:137-144 (2004)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0067: 3323
Feature /change: -t
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0067: 151
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14222; PERF_HUMAN: 17
Feature /change: L -> RPSLPRATQP HAQSASAATS SCLVHGWPGR VWTX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0067: 3323
Feature /change: -t
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0067: 151
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14222; PERF_HUMAN: 17
Feature /change: L -> RPSLPRATQP HAQSASAATS SCLVHGWPGR VWTX
Diagnosis FHL2
Sex XY
Age 2 mo
Ethnic origin African-American
//
ID #L17X50(6),#L17X50(6); standard; MUTATION;
Accession P0046
Systematic name Allele 1 and 2: g.3323delT, c.50delT, r.50delu,
Systematic name p.Leu17fsX34
Original code P30
Description Allele 1 and 2: a frame shift deletion mutation in the exon
Description 2 leading to a premature stop codon
Date 17-May-2004 (Rel. 1, Created)
Date 17-May-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 14757862
RefAuthors Molleran Lee, S., Villanueva, J., Sumegi, J., Zhang, K.,
RefAuthors Kogawa, K., Davis, J., Filipovich, A. H.
RefTitle Characterisation of diverse PRF1 mutations leading to
RefTitle decreased natural killer cell activity in north american
RefTitle families with haemophagocytic lymphohistiocytosis.
RefLoc J Med Genet 41:137-144 (2004)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0067: 3323
Feature /change: -t
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0067: 151
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14222; PERF_HUMAN: 17
Feature /change: L -> RPSLPRATQP HAQSASAATS SCLVHGWPGR VWTX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0067: 3323
Feature /change: -t
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0067: 151
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14222; PERF_HUMAN: 17
Feature /change: L -> RPSLPRATQP HAQSASAATS SCLVHGWPGR VWTX
Diagnosis FHL2
Sex XY
Age 2 mo
Ethnic origin African-American
//
ID #L17X50(7),Q481P(1); standard; MUTATION; ,C2
Accession P0047
Systematic name Allele 1: g.3323delT, c.50delT, r.50delu, p.Leu17fsX34
Systematic name Allele 2: g.5897A>C, c.1442A>C, r.1442a>c, p.Gln481Pro
Original code P33
Description Allele 1: a frame shift deletion mutation in the exon 2
Description leading to a premature stop codon
Description Allele 2: a point mutation in the exon 3 leading to an
Description amino acid change in the C2 domain
Date 17-May-2004 (Rel. 1, Created)
Date 17-May-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 14757862
RefAuthors Molleran Lee, S., Villanueva, J., Sumegi, J., Zhang, K.,
RefAuthors Kogawa, K., Davis, J., Filipovich, A. H.
RefTitle Characterisation of diverse PRF1 mutations leading to
RefTitle decreased natural killer cell activity in north american
RefTitle families with haemophagocytic lymphohistiocytosis.
RefLoc J Med Genet 41:137-144 (2004)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0067: 3323
Feature /change: -t
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0067: 151
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14222; PERF_HUMAN: 17
Feature /change: L -> RPSLPRATQP HAQSASAATS SCLVHGWPGR VWTX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0067: 5897
Feature /change: a -> c
Feature /genomic_region: exon; 3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0067: 1543
Feature /codon: cag -> ccg; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: P14222; PERF_HUMAN: 481
Feature /change: Q -> P
Feature /domain: C2
Diagnosis FHL2
Sex XX
Age 2 mo
Ethnic origin Hispanic
//
ID #L17X50(8),#L17X50(8); standard; MUTATION;
Accession P0048
Systematic name Allele 1 and 2: g.3323delT, c.50delT, r.50delu,
Systematic name p.Leu17fsX34
Original code P59
Description Allele 1 and 2: a frame shift deletion mutation in the exon
Description 2 leading to a premature stop codon
Date 17-May-2004 (Rel. 1, Created)
Date 17-May-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 14757862
RefAuthors Molleran Lee, S., Villanueva, J., Sumegi, J., Zhang, K.,
RefAuthors Kogawa, K., Davis, J., Filipovich, A. H.
RefTitle Characterisation of diverse PRF1 mutations leading to
RefTitle decreased natural killer cell activity in north american
RefTitle families with haemophagocytic lymphohistiocytosis.
RefLoc J Med Genet 41:137-144 (2004)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0067: 3323
Feature /change: -t
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0067: 151
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14222; PERF_HUMAN: 17
Feature /change: L -> RPSLPRATQP HAQSASAATS SCLVHGWPGR VWTX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0067: 3323
Feature /change: -t
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0067: 151
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14222; PERF_HUMAN: 17
Feature /change: L -> RPSLPRATQP HAQSASAATS SCLVHGWPGR VWTX
Diagnosis FHL2
Sex XY
Age 3 mo
Ethnic origin African-American
//
ID #L17X50(9),C73R(1); standard; MUTATION;
Accession P0050
Systematic name Allele 1: g.3323delT, c.50delT, r.50delu, p.Leu17fsX34
Systematic name Allele 2: g.3490T>C, c.217T>C, r.217u>c, p.Cys73Arg
Original code P32
Description Allele 1: a frame shift deletion mutation in the exon 2
Description leading to a premature stop codon
Description Allele 2: a point mutation in the exon 2 leading to an
Description amino acid change
Date 17-May-2004 (Rel. 1, Created)
Date 17-May-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 14757862
RefAuthors Molleran Lee, S., Villanueva, J., Sumegi, J., Zhang, K.,
RefAuthors Kogawa, K., Davis, J., Filipovich, A. H.
RefTitle Characterisation of diverse PRF1 mutations leading to
RefTitle decreased natural killer cell activity in north american
RefTitle families with haemophagocytic lymphohistiocytosis.
RefLoc J Med Genet 41:137-144 (2004)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0067: 3323
Feature /change: -t
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0067: 151
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14222; PERF_HUMAN: 17
Feature /change: L -> RPSLPRATQP HAQSASAATS SCLVHGWPGR VWTX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0067: 3490
Feature /change: t -> c
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0067: 318
Feature /codon: tgc -> cgc; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: P14222; PERF_HUMAN: 73
Feature /change: C -> R
Diagnosis FHL2
Sex XY
Age 4 mo
Ethnic origin African-American
//
ID #L17X50(10),#L17X50(10); standard; MUTATION;
Accession P0051
Systematic name Allele 1 and 2: g.3323delT, c.50delT, r.50delu,
Systematic name p.Leu17fsX34
Original code P26
Description Allele 1 and 2: a frame shift deletion mutation in the exon
Description 2 leading to a premature stop codon
Date 17-May-2004 (Rel. 1, Created)
Date 17-May-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 14757862
RefAuthors Molleran Lee, S., Villanueva, J., Sumegi, J., Zhang, K.,
RefAuthors Kogawa, K., Davis, J., Filipovich, A. H.
RefTitle Characterisation of diverse PRF1 mutations leading to
RefTitle decreased natural killer cell activity in north american
RefTitle families with haemophagocytic lymphohistiocytosis.
RefLoc J Med Genet 41:137-144 (2004)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0067: 3323
Feature /change: -t
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0067: 151
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14222; PERF_HUMAN: 17
Feature /change: L -> RPSLPRATQP HAQSASAATS SCLVHGWPGR VWTX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0067: 3323
Feature /change: -t
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0067: 151
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14222; PERF_HUMAN: 17
Feature /change: L -> RPSLPRATQP HAQSASAATS SCLVHGWPGR VWTX
Diagnosis FHL2
Sex XX
Age 6 mo
Ethnic origin African-American
//
ID #L17X50(11),#L17X50(11); standard; MUTATION;
Accession P0052
Systematic name Allele 1 and 2: g.3323delT, c.50delT, r.50delu,
Systematic name p.Leu17fsX34
Original code P31
Description Allele 1 and 2: a frame shift deletion mutation in the exon
Description 2 leading to a premature stop codon
Date 17-May-2004 (Rel. 1, Created)
Date 17-May-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 14757862
RefAuthors Molleran Lee, S., Villanueva, J., Sumegi, J., Zhang, K.,
RefAuthors Kogawa, K., Davis, J., Filipovich, A. H.
RefTitle Characterisation of diverse PRF1 mutations leading to
RefTitle decreased natural killer cell activity in north american
RefTitle families with haemophagocytic lymphohistiocytosis.
RefLoc J Med Genet 41:137-144 (2004)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0067: 3323
Feature /change: -t
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0067: 151
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14222; PERF_HUMAN: 17
Feature /change: L -> RPSLPRATQP HAQSASAATS SCLVHGWPGR VWTX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0067: 3323
Feature /change: -t
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0067: 151
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14222; PERF_HUMAN: 17
Feature /change: L -> RPSLPRATQP HAQSASAATS SCLVHGWPGR VWTX
Diagnosis FHL2
Sex XX
Age 6 mo
Ethnic origin African-American
//
ID #L17X50(12),#L17X50(12); standard; MUTATION;
Accession P0053
Systematic name Allele 1 and 2: g.3323delT, c.50delT, r.50delu,
Systematic name p.Leu17fsX34
Original code P11
Description Allele 1 and 2: a frame shift deletion mutation in the exon
Description 2 leading to a premature stop codon
Date 17-May-2004 (Rel. 1, Created)
Date 17-May-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 14757862
RefAuthors Molleran Lee, S., Villanueva, J., Sumegi, J., Zhang, K.,
RefAuthors Kogawa, K., Davis, J., Filipovich, A. H.
RefTitle Characterisation of diverse PRF1 mutations leading to
RefTitle decreased natural killer cell activity in north american
RefTitle families with haemophagocytic lymphohistiocytosis.
RefLoc J Med Genet 41:137-144 (2004)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0067: 3323
Feature /change: -t
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0067: 151
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14222; PERF_HUMAN: 17
Feature /change: L -> RPSLPRATQP HAQSASAATS SCLVHGWPGR VWTX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0067: 3323
Feature /change: -t
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0067: 151
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14222; PERF_HUMAN: 17
Feature /change: L -> RPSLPRATQP HAQSASAATS SCLVHGWPGR VWTX
Diagnosis FHL2
Sex XY
Age 8 mo
Ethnic origin African-American
//
ID #L17X50(13),G45E(1); standard; MUTATION;
Accession P0054
Systematic name Allele 1: g.3323delT, c.50delT, r.50delu, p.Leu17fsX34
Systematic name Allele 2: g.3407G>A, c.134G>A, r.134g>a, p.Gly45Glu
Original code P34
Description Allele 1: a frame shift deletion mutation in the exon 2
Description leading to a premature stop codon
Description Allele 2: a point mutation in the exon 2 leading to an
Description amino acid change
Date 17-May-2004 (Rel. 1, Created)
Date 17-May-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 14757862
RefAuthors Molleran Lee, S., Villanueva, J., Sumegi, J., Zhang, K.,
RefAuthors Kogawa, K., Davis, J., Filipovich, A. H.
RefTitle Characterisation of diverse PRF1 mutations leading to
RefTitle decreased natural killer cell activity in north american
RefTitle families with haemophagocytic lymphohistiocytosis.
RefLoc J Med Genet 41:137-144 (2004)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0067: 3323
Feature /change: -t
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0067: 151
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14222; PERF_HUMAN: 17
Feature /change: L -> RPSLPRATQP HAQSASAATS SCLVHGWPGR VWTX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0067: 3407
Feature /change: g -> a
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0067: 235
Feature /codon: ggg -> gag; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: P14222; PERF_HUMAN: 45
Feature /change: G -> E
Diagnosis FHL2
Sex XX
Age 8 mo
Ethnic origin African-American
//
ID #L17X50(14),#L17X50(14); standard; MUTATION;
Accession P0070
Systematic name Allele 1 and 2: g.3323delT, c.50delT, r.50delu,
Systematic name p.Leu17fsX34
Original code Patient 92
Description Allele 1 and 2: a frame shift deletion mutation in the exon
Description 2 leading to a premature stop codon
Date 07-Mar-2005 (Rel. 1, Created)
Date 07-Mar-2005 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12060139
RefAuthors Feldmann, J., Le Deist, F., Ouachee-Chardin, M., Certain,
RefAuthors S., Alexander, S., Quartier, P., Haddad, E., Wulffraat,
RefAuthors N., Casanova, J. L., Blanche, S., Fischer, A., de Saint
RefAuthors Basile, G.
RefTitle Functional consequences of perforin gene mutations in 22
RefTitle patients with familial haemophagocytic
RefTitle lymphohistiocytosis.
RefLoc Br J Haematol 117:965-972 (2002)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0067: 3323
Feature /change: -t
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0067: 151
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14222; PERF_HUMAN: 17
Feature /change: L -> RPSLPRATQP HAQSASAATS SCLVHGWPGR VWTX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0067: 3323
Feature /change: -t
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0067: 151
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14222; PERF_HUMAN: 17
Feature /change: L -> RPSLPRATQP HAQSASAATS SCLVHGWPGR VWTX
Diagnosis FHL2
Protein exp. undetectable
Ethnic origin Haiti
Parents Consanguineous
//
ID #L17X50(15),G220S(2); standard; MUTATION; ,TM2
Accession P0071
Systematic name Allele 1: g.3323delT, c.50delT, r.50delu, p.Leu17fsX34
Systematic name Allele 2: g.5113G>A, c.658G>A, r.658g>a, p.Gly220Ser
Original code Patient 95
Description Allele 1: a frame shift deletion mutation in the exon 2
Description leading to a premature stop codon
Description Allele 2: a point mutation in the exon 3 leading to an
Description amino acid change in the TM2 domain
Date 07-Mar-2005 (Rel. 1, Created)
Date 07-Mar-2005 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12060139
RefAuthors Feldmann, J., Le Deist, F., Ouachee-Chardin, M., Certain,
RefAuthors S., Alexander, S., Quartier, P., Haddad, E., Wulffraat,
RefAuthors N., Casanova, J. L., Blanche, S., Fischer, A., de Saint
RefAuthors Basile, G.
RefTitle Functional consequences of perforin gene mutations in 22
RefTitle patients with familial haemophagocytic
RefTitle lymphohistiocytosis.
RefLoc Br J Haematol 117:965-972 (2002)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0067: 3323
Feature /change: -t
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0067: 151
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14222; PERF_HUMAN: 17
Feature /change: L -> RPSLPRATQP HAQSASAATS SCLVHGWPGR VWTX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0067: 5113
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0067: 759
Feature /codon: ggc -> agc; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: P14222; PERF_HUMAN: 220
Feature /change: G -> S
Feature /domain: TM2
Diagnosis FHL2
Protein exp. undetectable
Ethnic origin Negroid; Algeria/Africa
Parents Non-consanguineous
//
ID #L17X50(16),#L17X50(16); standard; MUTATION;
Accession P0085
Systematic name Allele 1 and 2: g.3323delT, c.50delT, r.50delu,
Systematic name p.Leu17fsX34
Original code Patient 1[Ref2]
Description Allele 1 and 2: a frame shift deletion mutation in the exon
Description 2 leading to a premature stop codon
Date 16-Aug-2005 (Rel. 1, Created)
Date 16-Aug-2005 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15741215
RefAuthors Trambas, C., Gallo, F., Pende, D., Marcenaro, S., Moretta,
RefAuthors L., De Fusco, C., Santoro, A., Notarangelo, L., Arico, M.,
RefAuthors Griffiths, G. M.
RefTitle A single amino acid change, A91V, leads to conformational
RefTitle changes that can impair processing to the active form of
RefTitle perforin.
RefLoc Blood 106:932-937 (2005)
RefNumber [2]
RefCrossRef PUBMED; 12358924
RefAuthors Arico, M., Allen, M., Brusa, S., Clementi, R., Pende, D.,
RefAuthors Maccario, R., Moretta, L., Danesino, C.
RefTitle Haemophagocytic lymphohistiocytosis: proposal of a
RefTitle diagnostic algorithm based on perforin expression.
RefLoc Br J Haematol 119:180-188 (2002)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0067: 3323
Feature /change: -t
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0067: 151
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14222; PERF_HUMAN: 17
Feature /change: L -> RPSLPRATQP HAQSASAATS SCLVHGWPGR VWTX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0067: 3323
Feature /change: -t
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0067: 151
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14222; PERF_HUMAN: 17
Feature /change: L -> RPSLPRATQP HAQSASAATS SCLVHGWPGR VWTX
Diagnosis FHL2
Protein exp. no protein
Sex XY
Ethnic origin Caucasoid; Italy
Symptoms Hematological abnormalities
Symptoms Cytopenia
Symptoms Hypertriglyceridaemia
Symptoms Hypofibrinogenaemia
Symptoms Hemophagocytosis
Symptoms Hepatosplenomegaly
Symptoms Fever
Treatment Bone marrow transplantation: Yes
Treatment Outcome: alive and well
//
ID V38M/A91V(1),V38M/A91V(1); standard; MUTATION;
Accession P0098
Systematic name Allele 1: g.3385G>A; g.3545C>T, c.112G>A; c.272C>T,
Systematic name r.112g>a; r.272c>u, p.Val38Met; p.Ala91Val
Systematic name Allele 2: g.3385G>A; g.3545C>T, c.112G>A; c.272C>T,
Systematic name r.112g>a; r.272c>u, p.Val38Met; p.Ala91Val
Original code Patient 19
Description Allele 1: two point mutations in the exon 2 leading to
Description amino acid changes
Description Allele 2: two point mutations in the exon 2 leading to
Description amino acid changes
Date 05-Jun-2006 (Rel. 1, Created)
Date 05-Jun-2006 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 16278825
RefAuthors Zur Stadt, U., Beutel, K., Kolberg, S., Schneppenheim, R.,
RefAuthors Kabisch, H., Janka, G., Hennies, H. C.
RefTitle Mutation spectrum in children with primary hemophagocytic
RefTitle lymphohistiocytosis: molecular and functional analyses of
RefTitle PRF1, UNC13D, STX11, and RAB27A.
RefLoc Hum Mutat 27:62-68 (2006)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 3
Feature /name: point
Feature /loc: IDRefSeq: D0067: 3385
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 2
Feature dna; 2
Feature /rnalink: 4
Feature /name: point
Feature /loc: IDRefSeq: D0067: 3545
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 2
Feature rna; 3
Feature /dnalink: 1
Feature /aalink: 5
Feature /name: missense
Feature /loc: IDRefSeq: C0067: 213
Feature /codon: gtg -> atg; 1
Feature rna; 4
Feature /dnalink: 2
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0067: 373
Feature /codon: gcg -> gtg; 2
Feature aa; 5
Feature /rnalink: 3
Feature /name: aa substitution
Feature /loc: UniProt: P14222; PERF_HUMAN: 38
Feature /change: V -> M
Feature aa; 6
Feature /rnalink: 4
Feature /name: aa substitution
Feature /loc: UniProt: P14222; PERF_HUMAN: 91
Feature /change: A -> V
FeatureHeader allele; 2
Feature dna; 7
Feature /rnalink: 9
Feature /name: point
Feature /loc: IDRefSeq: D0067: 3385
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 2
Feature dna; 8
Feature /rnalink: 10
Feature /name: point
Feature /loc: IDRefSeq: D0067: 3545
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 2
Feature rna; 9
Feature /dnalink: 7
Feature /aalink: 11
Feature /name: missense
Feature /loc: IDRefSeq: C0067: 213
Feature /codon: gtg -> atg; 1
Feature rna; 10
Feature /dnalink: 8
Feature /aalink: 12
Feature /name: missense
Feature /loc: IDRefSeq: C0067: 373
Feature /codon: gcg -> gtg; 2
Feature aa; 11
Feature /rnalink: 9
Feature /name: aa substitution
Feature /loc: UniProt: P14222; PERF_HUMAN: 38
Feature /change: V -> M
Feature aa; 12
Feature /rnalink: 10
Feature /name: aa substitution
Feature /loc: UniProt: P14222; PERF_HUMAN: 91
Feature /change: A -> V
Diagnosis FHL2
Ethnic origin Morocco
Parents Consanguineous
//
ID P39H(1),G149S(1); standard; MUTATION;
Accession P0041
Systematic name Allele 1: g.3389C>A, c.116C>A, r.116c>a, p.Pro39His
Systematic name Allele 2: g.3718G>A, c.445G>A, r.445g>a, p.Gly149Ser
Original code P1
Description Allele 1: a point mutation in the exon 2 leading to an
Description amino acid change
Description Allele 2: a point mutation in the exon 2 leading to an
Description amino acid change
Date 13-May-2004 (Rel. 1, Created)
Date 13-May-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11756153
RefAuthors Kogawa, K., Lee, S. M., Villanueva, J., Marmer, D.,
RefAuthors Sumegi, J., Filipovich, A. H.
RefTitle Perforin expression in cytotoxic lymphocytes from patients
RefTitle with hemophagocytic lymphohistiocytosis and their family
RefTitle members.
RefLoc Blood 99:61-66 (2002)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0067: 3389
Feature /change: c -> a
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0067: 217
Feature /codon: cct -> cat; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P14222; PERF_HUMAN: 39
Feature /change: P -> H
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0067: 3718
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0067: 546
Feature /codon: ggc -> agc; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: P14222; PERF_HUMAN: 149
Feature /change: G -> S
Diagnosis FHL2
Protein exp. Lack of intracellular perforin in all cytotoxic cell types
Protein exp. (complete deficiency)
Sex XX
Age 10
//
ID G45R(1),R54C(1); standard; MUTATION;
Accession P0042
Systematic name Allele 1: g.3406G>A, c.133G>A, r.133g>a, p.Gly45Arg
Systematic name Allele 2: g.3433C>T, c.160C>T, r.160c>u, p.Arg54Cys
Original code P10
Description Allele 1: a point mutation in the exon 2 leading to an
Description amino acid change
Description Allele 2: a point mutation in the exon 2 leading to an
Description amino acid change
Date 13-May-2004 (Rel. 1, Created)
Date 13-May-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11756153
RefAuthors Kogawa, K., Lee, S. M., Villanueva, J., Marmer, D.,
RefAuthors Sumegi, J., Filipovich, A. H.
RefTitle Perforin expression in cytotoxic lymphocytes from patients
RefTitle with hemophagocytic lymphohistiocytosis and their family
RefTitle members.
RefLoc Blood 99:61-66 (2002)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0067: 3406
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0067: 234
Feature /codon: ggg -> agg; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P14222; PERF_HUMAN: 45
Feature /change: G -> R
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0067: 3433
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0067: 261
Feature /codon: cgc -> tgc; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: P14222; PERF_HUMAN: 54
Feature /change: R -> C
Diagnosis FHL2
Protein exp. Lack of intracellular perforin in CD8+ and CD56+ T cells
Protein exp. and a very low posivity of perforin stainig in the NK cells
Protein exp. (partial deficiency)
Sex XX
Age 10
//
ID V50M(1),Y219X(1); standard; MUTATION; ,TM2
Accession P0014
Systematic name Allele 1: g.3421G>A, c.249G>A, p.V50M
Systematic name Allele 2: g.5112C>A, c.758C>A, p.Y219X
Original code Family 9
Description Allele 1: point mutation in the exon 2 leading to an amino
Description acid change
Description Allele 2: point mutation in the exon 3 leading to a
Description premature stop codon
Date 23-Jun-2003 (Rel. 1, Created)
Date 23-Jun-2003 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11179007
RefAuthors Goransdotter Ericson, K., Fadeel, B., Nilsson-Ardnor, S.,
RefAuthors Soderhall, C., Samuelsson, A., Janka, G., Schneider, M.,
RefAuthors Gurgey, A., Yalman, N., Revesz, T., Egeler, R.,
RefAuthors Jahnukainen, K., Storm-Mathiesen, I., Haraldsson , A.,
RefAuthors Poole, J., de Saint Basile, G., Nordenskjold, M., Henter,
RefAuthors J.
RefTitle Spectrum of perforin gene mutations in familial
RefTitle hemophagocytic lymphohistiocytosis.
RefLoc Am J Hum Genet 68:590-597 (2001)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0067: 3421
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0067: 249
Feature /codon: gtg -> atg; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P14222; PERF_HUMAN: 50
Feature /change: V -> M
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0067: 5112
Feature /change: c -> a
Feature /genomic_region: exon; 3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0067: 758
Feature /codon: tac -> taa; 3
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14222; PERF_HUMAN: 219
Feature /change: Y -> X
Feature /domain: TM2
Sex XY
Age 4 months
Ethnic origin Caucasoid; Turkey
Parents Non-consanguineous
Status quo Deceased
Symptoms Hematological abnormalities
Symptoms Cytopenia
Symptoms Hemophagocytosis
Symptoms Splenomegaly
Symptoms Fever
Treatment HLH-94
Treatment No bone marrow transplantation
//
ID V50M(2),V50M(2); standard; MUTATION;
Accession P0060
Systematic name Allele 1 and 2: g.3421G>A, c.148G>A, r.148g>a, p.Val50Met
Original code P35
Description Allele 1 and 2: a point mutation in the exon 2 leading to
Description an amino acid change
Date 17-May-2004 (Rel. 1, Created)
Date 17-May-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 14757862
RefAuthors Molleran Lee, S., Villanueva, J., Sumegi, J., Zhang, K.,
RefAuthors Kogawa, K., Davis, J., Filipovich, A. H.
RefTitle Characterisation of diverse PRF1 mutations leading to
RefTitle decreased natural killer cell activity in north american
RefTitle families with haemophagocytic lymphohistiocytosis.
RefLoc J Med Genet 41:137-144 (2004)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0067: 3421
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0067: 249
Feature /codon: gtg -> atg; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P14222; PERF_HUMAN: 50
Feature /change: V -> M
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0067: 3421
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0067: 249
Feature /codon: gtg -> atg; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: P14222; PERF_HUMAN: 50
Feature /change: V -> M
Diagnosis FHL2
Sex XY
Age 7
Ethnic origin Russian
//
ID Q64X(1),Q64X(1); standard; MUTATION;
Accession P0003
Systematic name Allele 1 and 2: g.3463C>T, c.291C>T, p.Q64X
Original code P29
Description Allele 1 and 2: point mutation in the exon 2 leading to a
Description premature stop codon
Date 19-Jun-2003 (Rel. 1, Created)
Date 19-Jun-2003 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 10583959
RefAuthors Stepp, S. E., Dufourcq-Lagelouse, R., Le Deist, F.,
RefAuthors Bhawan, S., Certain, S., Mathew, P. A., Henter, J. I.,
RefAuthors Bennett, M., Fischer, A., de Saint Basile, G., Kumar, V.
RefTitle Perforin gene defects in familial hemophagocytic
RefTitle lymphohistiocytosis.
RefLoc Science 286:1957-1959 (1999)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0067: 3463
Feature /change: c -> t
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0067: 291
Feature /codon: caa -> taa; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14222; PERF_HUMAN: 64
Feature /change: Q -> X
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0067: 3463
Feature /change: c -> t
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0067: 291
Feature /codon: caa -> taa; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14222; PERF_HUMAN: 64
Feature /change: Q -> X
Parents Consanguineous
//
ID #P69X106(1),W374X(11); standard; MUTATION; ,EGF
Accession P0029
Systematic name Allele 1: g.3480delC, c.308delC, p.P69fsX106
Systematic name Allele 2: g.5577G>A, c.1223G>A, p.W374X
Original code Patient 9
Description Allele 1: deletion in the exon 2 leading to a premature
Description stop codon
Description Allele 2: point mutation in the exon 3 leading to a
Description premature stop codon in the EGF domain
Date 25-Jun-2003 (Rel. 1, Created)
Date 25-Jun-2003 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11841437
RefAuthors Suga, N., Takada, H., Nomura, A., Ohga, S., Ishii, E.,
RefAuthors Ihara, K., Ohshima, K., Hara, T.
RefTitle Perforin defects of primary haemophagocytic
RefTitle lymphohistiocytosis in japan.
RefLoc Br J Haematol 116:346-349 (2002)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0067: 3480
Feature /change: -c
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0067: 308
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14222; PERF_HUMAN: 69
Feature /change: P -> PTAPAPSVKM PYRRAPSSAC LWRSPTGGPR ALAASAMX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0067: 5577
Feature /change: g -> a
Feature /genomic_region: exon; 3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0067: 1223
Feature /codon: tgg -> tga; 3
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14222; PERF_HUMAN: 374
Feature /change: W -> X
Feature /domain: EGF
Sex XY
Age 2 months
Ethnic origin Mongoloid; Japan
Parents Non-consanguineous
Symptoms CNS alterations
Treatment HLH-94, ICE, CHOP
Treatment autoPBSCT (peripheral blood stem cell transplantation)
Comment -!-Sporadic primary HLH
//
ID #P69X106(2),#L364X456(2); standard; MUTATION;
Accession P0033
Systematic name Allele 1: g.3480delC, c.308delC, p.P69fsX106
Systematic name Allele 2: g.5545_5546delCT, c.1191_1192delCT, p.L364fsX456
Original code Patient 2
Description Allele 1: deletion in the exon 2 leading to a premature
Description stop codon
Description Allele 2: frameshift deletion in the exon 3 leading to a
Description premature stop codon
Date 26-Jun-2003 (Rel. 1, Created)
Date 26-Jun-2003 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12716377
RefAuthors Ueda, I., Morimoto, A., Inaba, T., Yagi, T., Hibi, S.,
RefAuthors Sugimoto, T., Sako, M., Yanai, F., Fukushima, T.,
RefAuthors Nakayama, M., Ishii, E., Imashuku, S.
RefTitle Characteristic perforin gene mutations of haemophagocytic
RefTitle lymphohistiocytosis patients in japan.
RefLoc Br J Haematol 121:503-510 (2003)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0067: 3480
Feature /change: -c
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0067: 308
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14222; PERF_HUMAN: 69
Feature /change: P -> PTAPAPSVKM PYRRAPSSAC LWRSPTGGPR ALAASAMX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0067: 5545..5546
Feature /change: -ct
Feature /genomic_region: exon; 3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0067: 1191..1192
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14222; PERF_HUMAN: 364
Feature /change: L
Feature /change: -> ESVPDGQGSL EGLQPAVPTR AAEEPPRPMP VCVPWLSGHH
Feature /change: PGLLPSAEGP GPAGGDLHPS MGPVGGLVHC HGCLCEALLW
Feature /change: WPGAEDEHRV GQX
Protein exp. complete lacking of intracellular perforin
Protein exp. expression (<1,0) in CD3+ and CD8+ cells
Age 1 month
Ethnic origin Mongoloid; Japan
Parents Non-consanguineous
Symptoms CNS alterations
//
ID #P69X106(3),#L364X456(4); standard; MUTATION;
Accession P0035
Systematic name Allele 1: g.3480delC, c.308delC, p.P69fsX106
Systematic name Allele 2: g.5545_5546delCT, c.1191_1192delCT, p.L364fsX456
Original code Patient 4
Description Allele 1: deletion in the exon 2 leading to a premature
Description stop codon
Description Allele 2: frameshift deletion in the exon 3 leading to a
Description premature stop codon
Date 26-Jun-2003 (Rel. 1, Created)
Date 26-Jun-2003 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12716377
RefAuthors Ueda, I., Morimoto, A., Inaba, T., Yagi, T., Hibi, S.,
RefAuthors Sugimoto, T., Sako, M., Yanai, F., Fukushima, T.,
RefAuthors Nakayama, M., Ishii, E., Imashuku, S.
RefTitle Characteristic perforin gene mutations of haemophagocytic
RefTitle lymphohistiocytosis patients in japan.
RefLoc Br J Haematol 121:503-510 (2003)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0067: 3480
Feature /change: -c
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0067: 308
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14222; PERF_HUMAN: 69
Feature /change: P -> PTAPAPSVKM PYRRAPSSAC LWRSPTGGPR ALAASAMX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0067: 5545..5546
Feature /change: -ct
Feature /genomic_region: exon; 3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0067: 1191..1192
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14222; PERF_HUMAN: 364
Feature /change: L
Feature /change: -> ESVPDGQGSL EGLQPAVPTR AAEEPPRPMP VCVPWLSGHH
Feature /change: PGLLPSAEGP GPAGGDLHPS MGPVGGLVHC HGCLCEALLW
Feature /change: WPGAEDEHRV GQX
Protein exp. not determined
Age 2 months
Ethnic origin Mongoloid; Japan
Parents Non-consanguineous
Symptoms CNS alterations
//
ID #P69X106(4),#L364X456(7); standard; MUTATION;
Accession P0077
Systematic name Allele 1: g.3480delC, c.207delC, r.207delc, p.Asp70fsX37
Systematic name Allele 2: g.5545_5546delCT, c.1090_1091delCT,
Systematic name r.1090_1091delcu, p.Leu364fsX93
Original code UPN24
Description Allele 1: a frame shift deletion mutation in the exon 2
Description leading to a premature stop codon
Description Allele 2: a frame shift deletion in the exon 3 leading to a
Description premature stop codon
Date 29-Apr-2005 (Rel. 1, Created)
Date 29-Apr-2005 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15632205
RefAuthors Ishii, E., Ueda, I., Shirakawa, R., Yamamoto, K.,
RefAuthors Horiuchi, H., Ohga, S., Furuno, K., Morimoto, A.,
RefAuthors Imayoshi, M., Ogata, Y., Zaitsu, M., Sako, M., Koike, K.,
RefAuthors Sakata, A., Takada, H., Hara, T., Imashuku, S., Sasazuki,
RefAuthors T., Yasukawa, M.
RefTitle Genetic subtypes of familial hemophagocytic
RefTitle lymphohistiocytosis: correlations with clinical features
RefTitle and cytotoxic T lymphocyte/natural killer cell functions.
RefLoc Blood 105:3442-3448 (2005)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0067: 3480
Feature /change: -c
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0067: 308
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14222; PERF_HUMAN: 69
Feature /change: P -> PTAPAPSVKM PYRRAPSSAC LWRSPTGGPR ALAASAMX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0067: 5545..5546
Feature /change: -ct
Feature /genomic_region: exon; 3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0067: 1191..1192
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14222; PERF_HUMAN: 364
Feature /change: L ->
Feature /change: ESVPDGQGSL EGLQPAVPTR AAEEPPRPMP VCVPWLSGHH
Feature /change: PGLLPSAEGP GPAGGDLHPS MGPVGGLVHC HGCLCEALLW
Feature /change: WPGAEDEHRV GQX
Diagnosis FHL2
Protein exp. Absent
Sex XX
Age 1 mo
Ethnic origin Mongoloid; Japan
Status quo Alive
//
ID #P69X106(5),R410W(1); standard; MUTATION;
Accession P0078
Systematic name Allele 1: g.3480delC, c.207delC, r.207delc, p.Asp70fsX37
Systematic name Allele 2: g.5683C>T, c.1228C>T, r.1228c>u, p.Arg410Trp
Original code UPN42
Description Allele 1: a frame shift deletion mutation in the exon 2
Description leading to a premature stop codon
Description Allele 2: a point mutation in the exon 3 leading to an
Description amino acid change
Date 29-Apr-2005 (Rel. 1, Created)
Date 29-Apr-2005 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15632205
RefAuthors Ishii, E., Ueda, I., Shirakawa, R., Yamamoto, K.,
RefAuthors Horiuchi, H., Ohga, S., Furuno, K., Morimoto, A.,
RefAuthors Imayoshi, M., Ogata, Y., Zaitsu, M., Sako, M., Koike, K.,
RefAuthors Sakata, A., Takada, H., Hara, T., Imashuku, S., Sasazuki,
RefAuthors T., Yasukawa, M.
RefTitle Genetic subtypes of familial hemophagocytic
RefTitle lymphohistiocytosis: correlations with clinical features
RefTitle and cytotoxic T lymphocyte/natural killer cell functions.
RefLoc Blood 105:3442-3448 (2005)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0067: 3480
Feature /change: -c
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0067: 308
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14222; PERF_HUMAN: 69
Feature /change: P -> PTAPAPSVKM PYRRAPSSAC LWRSPTGGPR ALAASAMX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0067: 5683
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0067: 1329
Feature /codon: cgg -> tgg; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: P14222; PERF_HUMAN: 410
Feature /change: R -> W
Diagnosis FHL2
Protein exp. Reduced
Sex XX
Age 12
Ethnic origin Mongoloid; Japan
Status quo Alive
//
ID P89T(1),P89T(1); standard; MUTATION;
Accession P0072
Systematic name Allele 1 and 2: g.3538C>A, c.265C>A, r.265c>a, p.Pro89Thr
Description Allele 1 and 2: a point mutation in the exon 2 leading to
Description an amino acid change
Date 07-Mar-2005 (Rel. 1, Created)
Date 07-Mar-2005 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 14578030
RefAuthors Al-Lamki, Z., Wali, Y. A., Pathare, A., Ericson, K. G.,
RefAuthors Henter, J. I.
RefTitle Clinical and genetic studies of familial hemophagocytic
RefTitle lymphohistiocytosis in oman: need for early treatment.
RefLoc Pediatr Hematol Oncol 20:603-609 (2003)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0067: 3538
Feature /change: c -> a
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0067: 366
Feature /codon: cct -> act; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P14222; PERF_HUMAN: 89
Feature /change: P -> T
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0067: 3538
Feature /change: c -> a
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0067: 366
Feature /codon: cct -> act; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: P14222; PERF_HUMAN: 89
Feature /change: P -> T
Diagnosis FHL2
Ethnic origin Caucasoid; Oman
//
ID P89T(2),P89T(2); standard; MUTATION;
Accession P0073
Systematic name Allele 1 and 2: g.3538C>A, c.265C>A, r.265c>a, p.Pro89Thr
Description Allele 1 and 2: a point mutation in the exon 2 leading to
Description an amino acid change
Date 07-Mar-2005 (Rel. 1, Created)
Date 07-Mar-2005 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 14578030
RefAuthors Al-Lamki, Z., Wali, Y. A., Pathare, A., Ericson, K. G.,
RefAuthors Henter, J. I.
RefTitle Clinical and genetic studies of familial hemophagocytic
RefTitle lymphohistiocytosis in oman: need for early treatment.
RefLoc Pediatr Hematol Oncol 20:603-609 (2003)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0067: 3538
Feature /change: c -> a
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0067: 366
Feature /codon: cct -> act; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P14222; PERF_HUMAN: 89
Feature /change: P -> T
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0067: 3538
Feature /change: c -> a
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0067: 366
Feature /codon: cct -> act; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: P14222; PERF_HUMAN: 89
Feature /change: P -> T
Diagnosis FHL2
Ethnic origin Caucasoid; Oman
//
ID P89T(3),P89T(3); standard; MUTATION;
Accession P0128
Systematic name Allele 1 and 2: g.3538C>A, c.265C>A, r.265c>a, p.Pro89Thr
Original code UPN 13
Description Allele 1 and 2: A point mutation in the exon 2 leading to
Description an amino acid change
Date 22-May-2008 (Rel. 1, Created)
Date 22-May-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17873118
RefAuthors Trizzino, A., zur Stadt, U., Ueda, I., Risma, K., Janka,
RefAuthors G., Ishii, E., Beutel, K., Sumegi, J., Cannella, S.,
RefAuthors Pende, D., Mian, A., Henter, J. I., Griffiths, G.,
RefAuthors Santoro, A., Filipovich, A., Aricx, M.
RefTitle Genotype-phenotype study of familial haemophagocytic
RefTitle lymphohistiocytosis due to perforin mutations.
RefLoc J Med Genet:15-21 (2008)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0067: 3538
Feature /change: c -> a
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0067; GI:129819; PRF1C: 366
Feature /codon: cct -> act; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P14222; PERF_HUMAN: 89
Feature /change: P -> T
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0067: 3538
Feature /change: c -> a
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0067; GI:129819; PRF1C: 366
Feature /codon: cct -> act; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: P14222; PERF_HUMAN: 89
Feature /change: P -> T
Protein level Reduced
Diagnosis Familial haemophagocytic lymphohistiocytosis (FHL2)
Age 0,2
Ethnic origin Caucasoid; Arab
//
ID A91V(1a),W374X(12a); standard; MUTATION; ,EGF
Accession P0062
Systematic name Allele 1: g.3545C>T, c.272C>T, r.272c>u, p.Ala91Val
Systematic name Allele 2: g.5577G>A, c.1122G>A, r.1122g>a, p.Trp374X
Original code case 1
Description Allele 1: a point mutation in the exon 2 leading to an
Description amino acid change
Description Allele 2: a point mutation in the exon 3 leading to a
Description premature stop codon in the EGF domain
Date 15-Feb-2005 (Rel. 1, Created)
Date 15-Feb-2005 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12229880
RefAuthors Clementi, R., Emmi, L., Maccario, R., Liotta, F., Moretta,
RefAuthors L., Danesino, C., Arico, M.
RefTitle Adult onset and atypical presentation of hemophagocytic
RefTitle lymphohistiocytosis in siblings carrying PRF1 mutations.
RefLoc Blood 100:2266-2267 (2002)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0067: 3545
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0067: 373
Feature /codon: gcg -> gtg; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P14222; PERF_HUMAN: 91
Feature /change: A -> V
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0067: 5577
Feature /change: g -> a
Feature /genomic_region: exon; 3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0067: 1223
Feature /codon: tgg -> tga; 3
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14222; PERF_HUMAN: 374
Feature /change: W -> X
Feature /domain: EGF
Diagnosis FHL2
Sex XY
Age 22
Ethnic origin Caucasoid; Italy
Relative PRF1base; P0063 sister
Symptoms Hematological abnormalities
Symptoms Pancytopenia
Symptoms Hypertriglyceridaemia
Symptoms Hypofibrinogenaemia
Symptoms Hepatosplenomegaly
Symptoms Fever
Symptoms Neurological abnormalities
Symptoms Other clinical features: lymphadenopathy, cough, herpes
Symptoms simplex lesions, dyspnea, hypertransaminasemia, upper and
Symptoms lower respiratory infection by S. aureus and P. aeruginosa
Symptoms with septicemia by S. hominis
Comment -!-The first reported adult onset familial HLH
//
ID A91V(1b),W374X(12b); standard; MUTATION; ,EGF
Accession P0063
Systematic name Allele 1: g.3545C>T, c.272C>T, r.272c>u, p.Ala91Val
Systematic name Allele 2: g.5577G>A, c.1122G>A, r.1122g>a, p.Trp374X
Original code case 2
Description Allele 1: a point mutation in the exon 2 leading to an
Description amino acid change
Description Allele 2: a point mutation in the exon 3 leading to a
Description premature stop codon in the EGF domain
Date 15-Feb-2005 (Rel. 1, Created)
Date 15-Feb-2005 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12229880
RefAuthors Clementi, R., Emmi, L., Maccario, R., Liotta, F., Moretta,
RefAuthors L., Danesino, C., Arico, M.
RefTitle Adult onset and atypical presentation of hemophagocytic
RefTitle lymphohistiocytosis in siblings carrying PRF1 mutations.
RefLoc Blood 100:2266-2267 (2002)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0067: 3545
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0067: 373
Feature /codon: gcg -> gtg; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P14222; PERF_HUMAN: 91
Feature /change: A -> V
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0067: 5577
Feature /change: g -> a
Feature /genomic_region: exon; 3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0067: 1223
Feature /codon: tgg -> tga; 3
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14222; PERF_HUMAN: 374
Feature /change: W -> X
Feature /domain: EGF
Diagnosis FHL2
Sex XX
Age 21
Ethnic origin Caucasoid; Italy
Relative PRF1base; P0062 brother
Symptoms Hematological abnormalities
Symptoms Pancytopenia
Symptoms Hypertriglyceridaemia
Symptoms Hypofibrinogenaemia
Symptoms Hepatosplenomegaly
Symptoms Fever
Symptoms Other clinical features: weight loss, weakness
Treatment Bone marrow transplantation: Yes
Treatment Outcome: alive and well
Treatment BMT-related problems: mild cytopenia persisted for a few
Treatment months
Comment -!-The first reported adult onset familial HLH
//
ID A91V(2a),A91V/R232H(1a); standard; MUTATION;
Accession P0082
Systematic name Allele 1: g.3545C>T, c.272C>T, r.272c>u, p.Ala91Val
Systematic name Allele 2: g.3545C>T;g.5150G>A, c.272C>T;c.695G>A,
Systematic name r.272c>u;r.695g>a, p.Ala91Val;p.Arg232His
Original code II-4
Description Allele 1: a point mutation in the exon 2 leading to
Description an amino acid change
Description Allele 2: point mutations in the exon 2 and exon 3
Description leading to amino acid changes
Date 16-Aug-2005 (Rel. 1, Created)
Date 16-Aug-2005 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 14739222
RefAuthors Busiello, R., Adriani, M., Locatelli, F., Galgani, M.,
RefAuthors Fimiani, G., Clementi, R., Ursini, M. V., Racioppi, L.,
RefAuthors Pignata, C.
RefTitle Atypical features of familial hemophagocytic
RefTitle lymphohistiocytosis.
RefLoc Blood 103:4610-4612 (2004)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0067: 3545
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0067: 373
Feature /codon: gcg -> gtg; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P14222; PERF_HUMAN: 91
Feature /change: A -> V
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 6
Feature /name: point
Feature /loc: IDRefSeq: D0067: 3545
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 2
Feature dna; 5
Feature /rnalink: 7
Feature /name: point
Feature /loc: IDRefSeq: D0067: 5150
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 3
Feature rna; 6
Feature /dnalink: 4
Feature /aalink: 8
Feature /name: missense
Feature /loc: IDRefSeq: C0067: 373
Feature /codon: gcg -> gtg; 2
Feature rna; 7
Feature /dnalink: 5
Feature /aalink: 9
Feature /name: missense
Feature /loc: IDRefSeq: C0067: 796
Feature /codon: cgc -> cac; 2
Feature aa; 8
Feature /rnalink: 6
Feature /name: aa substitution
Feature /loc: UniProt: P14222; PERF_HUMAN: 91
Feature /change: A -> V
Feature aa; 9
Feature /rnalink: 7
Feature /name: aa substitution
Feature /loc: UniProt: P14222; PERF_HUMAN: 232
Feature /change: R -> H
Feature /note: originally R231H
Diagnosis FHL2
Sex XX
Age 13
Relative PRF1base; P0083 twinsister
Status quo Deceased; cause of death: rapidly progressive FHLH
Symptoms Hematological abnormalities
Symptoms Cytopenia
Symptoms Hypertriglyceridaemia
Symptoms Hypofibrinogenaemia
Symptoms Lymphadenomegaly
Symptoms Hepatosplenomegaly
Symptoms Fever
Symptoms Oedema
Symptoms Jaundice
Symptoms Infections:
Symptoms Viral: CMV; EBV
Symptoms Other clinical features: Hyperferritinemia,
Symptoms hypoalbuminemia, hypertransaminasemia, cholestasis, HSI, II
Haemoglobin 4.1 g/dl
Platelets 39 x1000/mm3
//
ID A91V(2b),A91V/R232H(1b); standard; MUTATION;
Accession P0083
Systematic name Allele 1: g.3545C>T, c.272C>T, r.272c>u, p.Ala91Val
Systematic name Allele 2: g.3545C>T;g.5150G>A, c.272C>T;c.695G>A,
Systematic name r.272c>u;r.695g>a, p.Ala91Val;p.Arg232His
Original code II-3
Description Allele 1: a point mutation in the exon 2 leading to
Description an amino acid change
Description Allele 2: point mutations in the exon 2 and exon 3
Description leading to amino acid changes
Date 16-Aug-2005 (Rel. 1, Created)
Date 16-Aug-2005 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 14739222
RefAuthors Busiello, R., Adriani, M., Locatelli, F., Galgani, M.,
RefAuthors Fimiani, G., Clementi, R., Ursini, M. V., Racioppi, L.,
RefAuthors Pignata, C.
RefTitle Atypical features of familial hemophagocytic
RefTitle lymphohistiocytosis.
RefLoc Blood 103:4610-4612 (2004)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0067: 3545
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0067: 373
Feature /codon: gcg -> gtg; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P14222; PERF_HUMAN: 91
Feature /change: A -> V
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 6
Feature /name: point
Feature /loc: IDRefSeq: D0067: 3545
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 2
Feature dna; 5
Feature /rnalink: 7
Feature /name: point
Feature /loc: IDRefSeq: D0067: 5150
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 3
Feature rna; 6
Feature /dnalink: 4
Feature /aalink: 8
Feature /name: missense
Feature /loc: IDRefSeq: C0067: 373
Feature /codon: gcg -> gtg; 2
Feature rna; 7
Feature /dnalink: 5
Feature /aalink: 9
Feature /name: missense
Feature /loc: IDRefSeq: C0067: 796
Feature /codon: cgc -> cac; 2
Feature aa; 8
Feature /rnalink: 6
Feature /name: aa substitution
Feature /loc: UniProt: P14222; PERF_HUMAN: 91
Feature /change: A -> V
Feature aa; 9
Feature /rnalink: 7
Feature /name: aa substitution
Feature /loc: UniProt: P14222; PERF_HUMAN: 232
Feature /change: R -> H
Feature /note: originally R231H
Diagnosis FHL2
Sex XX
Relative PRF1base; P0082 twinsister
Status quo Alive
Haemoglobin 12.1 g/dl
Platelets 281 x1000/mm3
Comment -!-Patient is asymptomatic up to the present
//
ID A91V(3),W374X(14); standard; MUTATION; ,EGF
Accession P0084
Systematic name Allele 1: g.3545C>T, c.272C>T, r.272c>u, p.Ala91Val
Systematic name Allele 2: g.5577G>A, c.1122G>A, r.1122g>a, p.Trp374X
Original code Patient 6[Ref2]
Description Allele 1: a point mutation in the exon 2 leading to an
Description amino acid change
Description Allele 2: a point mutation in the exon 3 leading to a
Description premature stop codon in the EGF domain
Date 16-Aug-2005 (Rel. 1, Created)
Date 16-Aug-2005 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15741215
RefAuthors Trambas, C., Gallo, F., Pende, D., Marcenaro, S., Moretta,
RefAuthors L., De Fusco, C., Santoro, A., Notarangelo, L., Arico, M.,
RefAuthors Griffiths, G. M.
RefTitle A single amino acid change, A91V, leads to conformational
RefTitle changes that can impair processing to the active form of
RefTitle perforin.
RefLoc Blood 106:932-937 (2005)
RefNumber [2]
RefCrossRef PUBMED; 12358924
RefAuthors Arico, M., Allen, M., Brusa, S., Clementi, R., Pende, D.,
RefAuthors Maccario, R., Moretta, L., Danesino, C.
RefTitle Haemophagocytic lymphohistiocytosis: proposal of a
RefTitle diagnostic algorithm based on perforin expression.
RefLoc Br J Haematol 119:180-188 (2002)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0067: 3545
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0067: 373
Feature /codon: gcg -> gtg; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P14222; PERF_HUMAN: 91
Feature /change: A -> V
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0067: 5577
Feature /change: g -> a
Feature /genomic_region: exon; 3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0067: 1223
Feature /codon: tgg -> tga; 3
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14222; PERF_HUMAN: 374
Feature /change: W -> X
Feature /domain: EGF
Diagnosis FHL2
Sex XX
Ethnic origin Caucasoid; Italy
Parents Non-consanguineous
Symptoms Hematological abnormalities
Symptoms Cytopenia
Symptoms Thrombocytopenia
Symptoms Neutropenia
Symptoms Anemia
Symptoms Hypertriglyceridaemia
Symptoms Hypofibrinogenaemia
Symptoms Hemophagocytosis
Symptoms Lymphadenomegaly
Symptoms Hepatosplenomegaly
Symptoms Fever
Symptoms Jaundice
//
ID A91V(4),F421C(1); standard; MUTATION; ,C2
Accession P0087
Systematic name Allele 1: g.3545C>T, c.272C>T, r.272c>u, p.Ala91Val
Systematic name Allele 2: g.5717T>G, c.1262T>G, r.1262u>g, p.Phe421Cys
Original code Pt 3
Description Allele 1: a point mutation in the exon 2 leading to an
Description amino acid change
Description Allele 2: a point mutation in the exon 3 leading to an
Description amino acid change in the C2 domain
Date 16-Aug-2005 (Rel. 1, Created)
Date 16-Aug-2005 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15728124
RefAuthors Clementi, R., Locatelli, F., Dupre, L., Garaventa, A.,
RefAuthors Emmi, L., Bregni, M., Cefalo, G., Moretta, A., Danesino,
RefAuthors C., Comis, M., Pession, A., Ramenghi, U., Maccario, R.,
RefAuthors Aricx, M., Roncarolo, M. G.
RefTitle A proportion of patients with lymphoma may harbor
RefTitle mutations of the perforin gene.
RefLoc Blood 105:4424-4428 (2005)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0067: 3545
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0067: 373
Feature /codon: gcg -> gtg; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P14222; PERF_HUMAN: 91
Feature /change: A -> V
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0067: 5717
Feature /change: t -> g
Feature /genomic_region: exon; 3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0067: 1363
Feature /codon: ttc -> tgc; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: P14222; PERF_HUMAN: 421
Feature /change: F -> C
Feature /domain: C2
Diagnosis FHL2
Sex XX
Age 7
Ethnic origin Caucasoid
Status quo Deceased; cause of death: progression of the disease
Symptoms Hematological abnormalities
Symptoms Pancytopenia
Symptoms Hemophagocytosis
Symptoms Hepatosplenomegaly
Symptoms Fever
Symptoms Other clinical features: Multiple reddish nonulcerated
Symptoms subcutaneous nodules, T-cell non-Hodgkin lymphoma, liver
Symptoms disease
//
ID A91V(5),?; standard; MUTATION;
Accession P0089
Systematic name Allele 1: g.3545C>T, c.272C>T, r.272c>u, p.Ala91Val
Original code Pt 6
Description Allele 1: a point mutation in the exon 2 leading to
Description an amino acid change
Date 17-Aug-2005 (Rel. 1, Created)
Date 17-Aug-2005 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15728124
RefAuthors Clementi, R., Locatelli, F., Dupre, L., Garaventa, A.,
RefAuthors Emmi, L., Bregni, M., Cefalo, G., Moretta, A., Danesino,
RefAuthors C., Comis, M., Pession, A., Ramenghi, U., Maccario, R.,
RefAuthors Aricx, M., Roncarolo, M. G.
RefTitle A proportion of patients with lymphoma may harbor
RefTitle mutations of the perforin gene.
RefLoc Blood 105:4424-4428 (2005)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0067: 3545
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0067: 373
Feature /codon: gcg -> gtg; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P14222; PERF_HUMAN: 91
Feature /change: A -> V
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: unknown
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: unknown
Feature aa; 6
Feature /rnalink: 5
Feature /name: unknown
Sex XX
Ethnic origin Caucasoid
Symptoms Other clinical features: B-cell non-Hodgkin lymphoma, liver
Symptoms disease
//
ID A91V(6),?; standard; MUTATION;
Accession P0090
Systematic name Allele 1: g.3545C>T, c.272C>T, r.272c>u, p.Ala91Val
Original code Pt 9
Description Allele 1: a point mutation in the exon 2 leading to
Description an amino acid change
Date 17-Aug-2005 (Rel. 1, Created)
Date 17-Aug-2005 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15728124
RefAuthors Clementi, R., Locatelli, F., Dupre, L., Garaventa, A.,
RefAuthors Emmi, L., Bregni, M., Cefalo, G., Moretta, A., Danesino,
RefAuthors C., Comis, M., Pession, A., Ramenghi, U., Maccario, R.,
RefAuthors Aricx, M., Roncarolo, M. G.
RefTitle A proportion of patients with lymphoma may harbor
RefTitle mutations of the perforin gene.
RefLoc Blood 105:4424-4428 (2005)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0067: 3545
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0067: 373
Feature /codon: gcg -> gtg; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P14222; PERF_HUMAN: 91
Feature /change: A -> V
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: unknown
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: unknown
Feature aa; 6
Feature /rnalink: 5
Feature /name: unknown
Sex XY
Ethnic origin Caucasoid
Symptoms Other clinical features: T-cell non-Hodgkin lymphoma
//
ID A91V(7),?; standard; MUTATION;
Accession P0091
Systematic name Allele 1: g.3545C>T, c.272C>T, r.272c>u, p.Ala91Val
Original code Pt 14
Description Allele 1: a point mutation in the exon 2 leading to
Description an amino acid change
Date 17-Aug-2005 (Rel. 1, Created)
Date 17-Aug-2005 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15728124
RefAuthors Clementi, R., Locatelli, F., Dupre, L., Garaventa, A.,
RefAuthors Emmi, L., Bregni, M., Cefalo, G., Moretta, A., Danesino,
RefAuthors C., Comis, M., Pession, A., Ramenghi, U., Maccario, R.,
RefAuthors Aricx, M., Roncarolo, M. G.
RefTitle A proportion of patients with lymphoma may harbor
RefTitle mutations of the perforin gene.
RefLoc Blood 105:4424-4428 (2005)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0067: 3545
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0067: 373
Feature /codon: gcg -> gtg; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P14222; PERF_HUMAN: 91
Feature /change: A -> V
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: unknown
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: unknown
Feature aa; 6
Feature /rnalink: 5
Feature /name: unknown
Sex XY
Ethnic origin Caucasoid
Symptoms Other clinical features: Hodgkin lymphoma
//
ID A91V(8),A91V(8); standard; MUTATION;
Accession P0096
Systematic name Allele 1 and 2: g.3545C>T, c.272C>T, r.272c>u, p.Ala91Val
Description Allele 1 and 2: a point mutation in the exon 2 leading to
Description an amino acid change
Date 18-Jan-2006 (Rel. 1, Created)
Date 18-Jan-2006 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 16374518
RefAuthors Risma, K. A., Frayer, R. W., Filipovich, A. H., Sumegi, J.
RefTitle Aberrant maturation of mutant perforin underlies the
RefTitle clinical diversity of hemophagocytic lymphohistiocytosis.
RefLoc J Clin Invest 116:182-192 (2006)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0067: 3545
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0067: 373
Feature /codon: gcg -> gtg; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P14222; PERF_HUMAN: 91
Feature /change: A -> V
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0067: 3545
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0067: 373
Feature /codon: gcg -> gtg; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: P14222; PERF_HUMAN: 91
Feature /change: A -> V
Diagnosis FHL2
Protein exp. partial maturation
Age 5
//
ID A91V(9),A91V(9); standard; MUTATION;
Accession P0105
Systematic name Allele 1 and 2: g.3545C>T, c.272C>T, r.272c>u, p.Ala91Val
Original code II-2
Description Allele 1 and 2: A point mutation in the exon 2 leading to
Description an amino acid change
Date 02-May-2007 (Rel. 1, Created)
Date 02-May-2007 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 16956828
RefAuthors Mancebo, E., Allende, L. M., Guzman, M., Paz-Artal, E.,
RefAuthors Gil, J., Urrea-Moreno, R., Fernandez-Cruz, E., Gaya, A.,
RefAuthors Calvo, J., Arbos, A., Duran, M. A., Canet, R., Balanzat,
RefAuthors J., Udina, M. A., Vercher, F. J.
RefTitle Familial hemophagocytic lymphohistiocytosis in an adult
RefTitle patient homozygous for A91V in the perforin gene, with
RefTitle tuberculosis infection.
RefLoc Haematologica:1257-1260 (2006)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0067: 3545
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0067; GI:129819; PRF1C: 373
Feature /codon: gcg -> gtg; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P14222; PERF_HUMAN: 91
Feature /change: A -> V
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0067: 3545
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0067; GI:129819; PRF1C: 373
Feature /codon: gcg -> gtg; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: P14222; PERF_HUMAN: 91
Feature /change: A -> V
Diagnosis Familial haemophagocytic lymphohistiocytosis (FHL2)
Sex XY
Ethnic origin Caucasoid; Spain
Relative Monocygotic twin-brother carry the same homozygous
Relative mutation, but is healthy. Other brother has the same
Relative homozygotic mutation and have chronic lymphocytic leukemia.
Symptoms Hematological abnormalities
Symptoms Pancytopenia
Symptoms Fever
Symptoms Other clinical features: pulmonary tuberculosis
Comment It seems that a concomitant stimulus (e.g. corticosteroid
Comment therapy in this patient), epigenetic factors or
Comment co-inherited genetic abnormalities are needed for the
Comment development of FHL in a patient with homozygous A91V PRF1
Comment mutation
//
ID A91V(10),?; standard; MUTATION;
Accession P0107
Systematic name Allele 1: g.3545C>T, c.272C>T, r.272c>u, p.Ala91Val
Original code Case No. 1
Description Allele 1: A point mutation in the exon 2 leading to
Description an amino acid change
Date 21-May-2008 (Rel. 1, Created)
Date 21-May-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17477373
RefAuthors Cannella, S., Santoro, A., Bruno, G., Pillon, M.,
RefAuthors Mussolin, L., Mangili, G., Rosolen, A., Aricx, M.
RefTitle Germline mutations of the perforin gene are a frequent
RefTitle occurrence in childhood anaplastic large cell lymphoma.
RefLoc Cancer:2566-2571 (2007)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0067: 3545
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0067; GI:129819; PRF1C: 373
Feature /codon: gcg -> gtg; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P14222; PERF_HUMAN: 91
Feature /change: A -> V
Diagnosis Anaplastic Large Cell Lymphoma (ALCL)
Sex XX
Ethnic origin Italian
//
ID A91V(11),?; standard; MUTATION;
Accession P0108
Systematic name Allele 1: g.3545C>T, c.272C>T, r.272c>u, p.Ala91Val
Original code Case No. 3
Description Allele 1: A point mutation in the exon 2 leading to
Description an amino acid change
Date 21-May-2008 (Rel. 1, Created)
Date 21-May-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17477373
RefAuthors Cannella, S., Santoro, A., Bruno, G., Pillon, M.,
RefAuthors Mussolin, L., Mangili, G., Rosolen, A., Aricx, M.
RefTitle Germline mutations of the perforin gene are a frequent
RefTitle occurrence in childhood anaplastic large cell lymphoma.
RefLoc Cancer:2566-2571 (2007)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0067: 3545
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0067; GI:129819; PRF1C: 373
Feature /codon: gcg -> gtg; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P14222; PERF_HUMAN: 91
Feature /change: A -> V
Diagnosis Anaplastic Large Cell Lymphoma (ALCL)
Sex XX
Ethnic origin Italian
//
ID A91V(12),?; standard; MUTATION;
Accession P0110
Systematic name Allele 1: g.3545C>T, c.272C>T, r.272c>u, p.Ala91Val
Original code Case No. 10
Description Allele 1: A point mutation in the exon 2 leading to
Description an amino acid change
Date 21-May-2008 (Rel. 1, Created)
Date 21-May-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17477373
RefAuthors Cannella, S., Santoro, A., Bruno, G., Pillon, M.,
RefAuthors Mussolin, L., Mangili, G., Rosolen, A., Aricx, M.
RefTitle Germline mutations of the perforin gene are a frequent
RefTitle occurrence in childhood anaplastic large cell lymphoma.
RefLoc Cancer:2566-2571 (2007)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0067: 3545
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0067; GI:129819; PRF1C: 373
Feature /codon: gcg -> gtg; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P14222; PERF_HUMAN: 91
Feature /change: A -> V
Diagnosis Anaplastic Large Cell Lymphoma (ALCL)
Sex XX
Ethnic origin Italian
//
ID A91V(13),?; standard; MUTATION;
Accession P0111
Systematic name Allele 1: g.3545C>T, c.272C>T, r.272c>u, p.Ala91Val
Original code Case No. 17
Description Allele 1: A point mutation in the exon 2 leading to
Description an amino acid change
Date 21-May-2008 (Rel. 1, Created)
Date 21-May-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17477373
RefAuthors Cannella, S., Santoro, A., Bruno, G., Pillon, M.,
RefAuthors Mussolin, L., Mangili, G., Rosolen, A., Aricx, M.
RefTitle Germline mutations of the perforin gene are a frequent
RefTitle occurrence in childhood anaplastic large cell lymphoma.
RefLoc Cancer:2566-2571 (2007)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0067: 3545
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0067; GI:129819; PRF1C: 373
Feature /codon: gcg -> gtg; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P14222; PERF_HUMAN: 91
Feature /change: A -> V
Diagnosis Anaplastic Large Cell Lymphoma (ALCL)
Sex XY
Ethnic origin Italian
//
ID A91V(14),?; standard; MUTATION;
Accession P0112
Systematic name Allele 1: g.3545C>T, c.272C>T, r.272c>u, p.Ala91Val
Original code Case No. 24
Description Allele 1: A point mutation in the exon 2 leading to
Description an amino acid change
Date 21-May-2008 (Rel. 1, Created)
Date 21-May-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17477373
RefAuthors Cannella, S., Santoro, A., Bruno, G., Pillon, M.,
RefAuthors Mussolin, L., Mangili, G., Rosolen, A., Aricx, M.
RefTitle Germline mutations of the perforin gene are a frequent
RefTitle occurrence in childhood anaplastic large cell lymphoma.
RefLoc Cancer:2566-2571 (2007)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0067: 3545
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0067; GI:129819; PRF1C: 373
Feature /codon: gcg -> gtg; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P14222; PERF_HUMAN: 91
Feature /change: A -> V
Diagnosis Anaplastic Large Cell Lymphoma (ALCL)
Sex XX
Ethnic origin Italian
//
ID A91V(15),?; standard; MUTATION;
Accession P0113
Systematic name Allele 1: g.3545C>T, c.272C>T, r.272c>u, p.Ala91Val
Original code Case No. 26
Description Allele 1: A point mutation in the exon 2 leading to
Description an amino acid change
Date 21-May-2008 (Rel. 1, Created)
Date 21-May-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17477373
RefAuthors Cannella, S., Santoro, A., Bruno, G., Pillon, M.,
RefAuthors Mussolin, L., Mangili, G., Rosolen, A., Aricx, M.
RefTitle Germline mutations of the perforin gene are a frequent
RefTitle occurrence in childhood anaplastic large cell lymphoma.
RefLoc Cancer:2566-2571 (2007)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0067: 3545
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0067; GI:129819; PRF1C: 373
Feature /codon: gcg -> gtg; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P14222; PERF_HUMAN: 91
Feature /change: A -> V
Diagnosis Anaplastic Large Cell Lymphoma (ALCL)
Sex XY
Ethnic origin Italian
//
ID A91V(16),?; standard; MUTATION;
Accession P0117
Systematic name Allele 1: g.3545C>T, c.272C>T, r.272c>u, p.Ala91Val
Original code Case No. 43
Description Allele 1: A point mutation in the exon 2 leading to
Description an amino acid change
Date 21-May-2008 (Rel. 1, Created)
Date 21-May-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17477373
RefAuthors Cannella, S., Santoro, A., Bruno, G., Pillon, M.,
RefAuthors Mussolin, L., Mangili, G., Rosolen, A., Aricx, M.
RefTitle Germline mutations of the perforin gene are a frequent
RefTitle occurrence in childhood anaplastic large cell lymphoma.
RefLoc Cancer:2566-2571 (2007)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0067: 3545
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0067; GI:129819; PRF1C: 373
Feature /codon: gcg -> gtg; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P14222; PERF_HUMAN: 91
Feature /change: A -> V
Diagnosis Anaplastic Large Cell Lymphoma (ALCL)
Sex XY
Ethnic origin Italian
//
ID A91V(17),R232H(3); standard; MUTATION;
Accession P0118
Systematic name Allele 1: g.3545C>T, c.272C>T, r.272c>u, p.Ala91Val
Systematic name Allele 2: g.5150G>A, c.695G>A, r.695g>a, p.Arg232His
Original code Case No. 44
Description Allele 1: A point mutation in the exon 2 leading to an
Description amino acid change
Description Allele 2: A point mutation in the exon 3 leading to an
Description amino acid change
Date 21-May-2008 (Rel. 1, Created)
Date 21-May-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17477373
RefAuthors Cannella, S., Santoro, A., Bruno, G., Pillon, M.,
RefAuthors Mussolin, L., Mangili, G., Rosolen, A., Aricx, M.
RefTitle Germline mutations of the perforin gene are a frequent
RefTitle occurrence in childhood anaplastic large cell lymphoma.
RefLoc Cancer:2566-2571 (2007)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0067: 3545
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0067; GI:129819; PRF1C: 373
Feature /codon: gcg -> gtg; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P14222; PERF_HUMAN: 91
Feature /change: A -> V
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0067: 5150
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0067; GI:129819; PRF1C: 796
Feature /codon: cgc -> cac; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: P14222; PERF_HUMAN: 232
Feature /change: R -> H
Diagnosis Anaplastic Large Cell Lymphoma (ALCL)
Sex XX
Ethnic origin Italian
//
ID A91V(18),A91V(18); standard; MUTATION;
Accession P0129
Systematic name Allele 1 and 2: g.3545C>T, c.272C>T, r.272c>u, p.Ala91Val
Original code UPN 15
Description Allele 1 and 2: A point mutation in the exon 2 leading to
Description an amino acid change
Date 22-May-2008 (Rel. 1, Created)
Date 22-May-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17873118
RefAuthors Trizzino, A., zur Stadt, U., Ueda, I., Risma, K., Janka,
RefAuthors G., Ishii, E., Beutel, K., Sumegi, J., Cannella, S.,
RefAuthors Pende, D., Mian, A., Henter, J. I., Griffiths, G.,
RefAuthors Santoro, A., Filipovich, A., Aricx, M.
RefTitle Genotype-phenotype study of familial haemophagocytic
RefTitle lymphohistiocytosis due to perforin mutations.
RefLoc J Med Genet:15-21 (2008)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0067: 3545
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0067; GI:129819; PRF1C: 373
Feature /codon: gcg -> gtg; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P14222; PERF_HUMAN: 91
Feature /change: A -> V
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0067: 3545
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0067; GI:129819; PRF1C: 373
Feature /codon: gcg -> gtg; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: P14222; PERF_HUMAN: 91
Feature /change: A -> V
Protein level Normal
Diagnosis Familial haemophagocytic lymphohistiocytosis (FHL2)
Age 0,2
Ethnic origin Caucasoid
//
ID A91V(19),A91V(19); standard; MUTATION;
Accession P0155
Systematic name Allele 1 and 2: g.3545C>T, c.272C>T, r.272c>u, p.Ala91Val
Original code Case7
Description Allele 1 and 2: A point mutation in the exon 2 leading to
Description an amino acid change
Date 08-Jul-2010 (Rel. 1, Created)
Date 08-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 18190960
RefAuthors Okur, H., Balta, G., Akarsu, N., Oner, A., Patiroglu, T.,
RefAuthors Bay, A., Sayli, T., Unal, S., Gurgey, A.
RefTitle Clinical and molecular aspects of turkish familial
RefTitle hemophagocytic lymphohistiocytosis patients with perforin
RefTitle mutations.
RefLoc Leuk Res:972-975 (2008)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0067: 3545
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0067; GI:129819; PRF1C: 373
Feature /codon: gcg -> gtg; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P14222; PERF_HUMAN: 91
Feature /change: A -> V
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0067: 3545
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0067; GI:129819; PRF1C: 373
Feature /codon: gcg -> gtg; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: P14222; PERF_HUMAN: 91
Feature /change: A -> V
Diagnosis Familial haemophagocytic lymphohistiocytosis (FHL2)
Status quo Alive
Age 13
Sex XX
Ethnic origin Turkey
Parents Consanguineous
Family history Inherited
Symptoms Hematological abnormalities
Symptoms Cytopenia
Symptoms Pancytopenia
Symptoms Hypertriglyceridaemia
Symptoms Splenomegaly
Symptoms Fever
Treatment HLH-2004
//
ID A91V(20),A91V(20); standard; MUTATION;
Accession P0156
Systematic name Allele 1 and 2: g.3545C>T, c.272C>T, r.272c>u, p.Ala91Val
Original code Case8
Description Allele 1 and 2: A point mutation in the exon 2 leading to
Description an amino acid change
Date 08-Jul-2010 (Rel. 1, Created)
Date 08-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 18190960
RefAuthors Okur, H., Balta, G., Akarsu, N., Oner, A., Patiroglu, T.,
RefAuthors Bay, A., Sayli, T., Unal, S., Gurgey, A.
RefTitle Clinical and molecular aspects of turkish familial
RefTitle hemophagocytic lymphohistiocytosis patients with perforin
RefTitle mutations.
RefLoc Leuk Res:972-975 (2008)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0067: 3545
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0067; GI:129819; PRF1C: 373
Feature /codon: gcg -> gtg; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P14222; PERF_HUMAN: 91
Feature /change: A -> V
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0067: 3545
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0067; GI:129819; PRF1C: 373
Feature /codon: gcg -> gtg; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: P14222; PERF_HUMAN: 91
Feature /change: A -> V
Diagnosis Familial haemophagocytic lymphohistiocytosis (FHL2)
Status quo Deceased
Age 12
Sex XY
Ethnic origin Turkey
Parents Consanguineous
Family history Inherited
Symptoms Hematological abnormalities
Symptoms Cytopenia
Symptoms Pancytopenia
Symptoms Hypertriglyceridaemia
Symptoms Splenomegaly
Symptoms Fever
Treatment HLH-2004
//
ID A91V(21),A91V(21); standard; MUTATION;
Accession P0157
Systematic name Allele 1 and 2: g.3545C>T, c.272C>T, r.272c>u, p.Ala91Val
Original code Case6
Description Allele 1 and 2: A point mutation in the exon 2 leading to
Description an amino acid change
Date 08-Jul-2010 (Rel. 1, Created)
Date 08-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 18190960
RefAuthors Okur, H., Balta, G., Akarsu, N., Oner, A., Patiroglu, T.,
RefAuthors Bay, A., Sayli, T., Unal, S., Gurgey, A.
RefTitle Clinical and molecular aspects of turkish familial
RefTitle hemophagocytic lymphohistiocytosis patients with perforin
RefTitle mutations.
RefLoc Leuk Res:972-975 (2008)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0067: 3545
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0067; GI:129819; PRF1C: 373
Feature /codon: gcg -> gtg; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P14222; PERF_HUMAN: 91
Feature /change: A -> V
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0067: 3545
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0067; GI:129819; PRF1C: 373
Feature /codon: gcg -> gtg; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: P14222; PERF_HUMAN: 91
Feature /change: A -> V
Diagnosis Familial haemophagocytic lymphohistiocytosis (FHL2)
Status quo Alive
Age 16
Sex XY
Ethnic origin Turkey
Parents Consanguineous
Family history Inherited
Symptoms Hematological abnormalities
Symptoms Cytopenia
Symptoms Pancytopenia
Symptoms Hypertriglyceridaemia
Symptoms Splenomegaly
Symptoms Fever
Treatment HLH-2004
//
ID W95R(1),W95R(1); standard; MUTATION;
Accession P0017
Systematic name Allele 1 and 2: g.3556T>C, c.384T>C, p.W95R
Original code Case 2
Description Allele 1 and 2: point mutation in the exon 2 leading to an
Description amino acid change
Date 24-Jun-2003 (Rel. 1, Created)
Date 24-Jun-2003 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11565555
RefAuthors Clementi, R., zur Stadt, U., Savoldi, G., Varoitto, S.,
RefAuthors Conter, V., De Fusco, C., Notarangelo, L. D., Schneider,
RefAuthors M., Klersy, C., Janka, G., Danesino, C., Aricò, M.
RefTitle Six novel mutations in the PRF1 gene in children with
RefTitle haemophagocytic lymphohistiocytosis.
RefLoc J Med Genet 38:643-646 (2001)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0067: 3556
Feature /change: t -> c
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0067: 384
Feature /codon: tgg -> cgg; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P14222; PERF_HUMAN: 95
Feature /change: W -> R
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0067: 3556
Feature /change: t -> c
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0067: 384
Feature /codon: tgg -> cgg; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: P14222; PERF_HUMAN: 95
Feature /change: W -> R
Sex XY
Age 3 months
Ethnic origin Caucasoid; Italy
Symptoms Hematological abnormalities
Symptoms Neutropenia
Symptoms Hypertriglyceridaemia
Symptoms Hypofibrinogenaemia
Symptoms Hepatosplenomegaly
Symptoms Fever
Symptoms CSF pleiocytosis
Symptoms Infections:
Symptoms Bacterial: E. coli
Symptoms Viral: EBV
Symptoms Other clinical features: Absent NK activity
Haemoglobin 6.4 g/dl
Platelets 10 x1000/mm3
Treatment Bone marrow transplantation: Yes
Treatment Outcome: alive and well
Comment -!-asymptomatic 13+ mth after BMT
//
ID C102F(1),=; standard; MUTATION;
Accession P0144
Systematic name Allele 1: g.3578G>T, c.305G>T, r.305g>u, p.Cys102Phe
Description Allele 1: A point mutation in the exon 2 leading to
Description an amino acid change
Date 08-Jul-2010 (Rel. 1, Created)
Date 08-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20092789
RefAuthors Lu, G., Xie, Z. D., Shen, K. L., Ye, L. J., Wu, R. H.,
RefAuthors Liu, C. Y., Jin, Y. K., Yang, S.
RefTitle Mutations in the perforin gene in children with
RefTitle hemophagocytic lymphohistiocytosis.
RefLoc Chin Med J (Engl):2851-2855 (2009)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0067: 3578
Feature /change: g -> t
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0067; GI:129819; PRF1C: 406
Feature /codon: tgc -> ttc; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P14222; PERF_HUMAN: 102
Feature /change: C -> F
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: no mutation
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: no mutation
Feature aa; 6
Feature /rnalink: 5
Feature /name: no mutation
Diagnosis Chronic active EBV infection (CAEBV)
Status quo Deceased
Age 5
Sex XY
Symptoms Hematological abnormalities
Symptoms Cytopenia
Symptoms Lymphadenomegaly
Symptoms Hepatosplenomegaly
Symptoms Fever
Treatment Ganciclovir, interferon alpha, steroids,
Treatment IVIG
//
ID R123H(1),?; standard; MUTATION;
Accession P0109
Systematic name Allele 1: g.3641G>A, c.368G>A, r.368g>a, p.Arg123His
Original code Case No. 4
Description Allele 1: A point mutation in the exon 2 leading to
Description an amino acid change
Date 21-May-2008 (Rel. 1, Created)
Date 21-May-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17477373
RefAuthors Cannella, S., Santoro, A., Bruno, G., Pillon, M.,
RefAuthors Mussolin, L., Mangili, G., Rosolen, A., Aricx, M.
RefTitle Germline mutations of the perforin gene are a frequent
RefTitle occurrence in childhood anaplastic large cell lymphoma.
RefLoc Cancer:2566-2571 (2007)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0067: 3641
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0067; GI:129819; PRF1C: 469
Feature /codon: cgt -> cat; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P14222; PERF_HUMAN: 123
Feature /change: R -> H
Diagnosis Anaplastic Large Cell Lymphoma (ALCL)
Sex XY
Ethnic origin Italian
//
ID G149S(2),R299C(1); standard; MUTATION;
Accession P0056
Systematic name Allele 1: g.3718G>A, c.445G>A, r.445g>a, p.Gly149Ser
Systematic name Allele 2: g.5350C>T, c.895C>T, r.895c>u, p.Arg299Cys
Original code P25
Description Allele 1: a point mutation in the exon 2 leading to an
Description amino acid change
Description Allele 2: a point mutation in the exon 3 leading to an
Description amino acid change
Date 17-May-2004 (Rel. 1, Created)
Date 17-May-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 14757862
RefAuthors Molleran Lee, S., Villanueva, J., Sumegi, J., Zhang, K.,
RefAuthors Kogawa, K., Davis, J., Filipovich, A. H.
RefTitle Characterisation of diverse PRF1 mutations leading to
RefTitle decreased natural killer cell activity in north american
RefTitle families with haemophagocytic lymphohistiocytosis.
RefLoc J Med Genet 41:137-144 (2004)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0067: 3718
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0067: 546
Feature /codon: ggc -> agc; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P14222; PERF_HUMAN: 149
Feature /change: G -> S
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0067: 5350
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0067: 996
Feature /codon: cgc -> tgc; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: P14222; PERF_HUMAN: 299
Feature /change: R -> C
Diagnosis FHL2
Sex XY
Age 2
Ethnic origin Portuguese
//
ID G149S(3),R361W(1); standard; MUTATION;
Accession P0057
Systematic name Allele 1: g.3718G>A, c.445G>A, r.445g>a, p.Gly149Ser
Systematic name Allele 2: g.5536A>T, c.1081A>T, r.1081a>u, p.Arg361Trp
Original code P24
Description Allele 1: a point mutation in the exon 2 leading to an
Description amino acid change
Description Allele 2: a point mutation in the exon 3 leading to an
Description amino acid change
Date 17-May-2004 (Rel. 1, Created)
Date 17-May-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 14757862
RefAuthors Molleran Lee, S., Villanueva, J., Sumegi, J., Zhang, K.,
RefAuthors Kogawa, K., Davis, J., Filipovich, A. H.
RefTitle Characterisation of diverse PRF1 mutations leading to
RefTitle decreased natural killer cell activity in north american
RefTitle families with haemophagocytic lymphohistiocytosis.
RefLoc J Med Genet 41:137-144 (2004)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0067: 3718
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0067: 546
Feature /codon: ggc -> agc; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P14222; PERF_HUMAN: 149
Feature /change: G -> S
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0067: 5536
Feature /change: a -> t
Feature /genomic_region: exon; 3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0067: 1182
Feature /codon: agg -> tgg; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: P14222; PERF_HUMAN: 361
Feature /change: R -> W
Diagnosis FHL2
Sex XX
Age 4
Ethnic origin Hispanic
//
ID G149S(4),G149S(4); standard; MUTATION;
Accession P0094
Systematic name Allele 1 and 2: g.3718G>A, c.445G>A, r.445g>a, p.Gly149Ser
Description Allele 1 and 2: a point mutation in the exon 2 leading to
Description an amino acid change
Date 18-Jan-2006 (Rel. 1, Created)
Date 18-Jan-2006 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 16374518
RefAuthors Risma, K. A., Frayer, R. W., Filipovich, A. H., Sumegi, J.
RefTitle Aberrant maturation of mutant perforin underlies the
RefTitle clinical diversity of hemophagocytic lymphohistiocytosis.
RefLoc J Clin Invest 116:182-192 (2006)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0067: 3718
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0067: 546
Feature /codon: ggc -> agc; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P14222; PERF_HUMAN: 149
Feature /change: G -> S
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0067: 3718
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0067: 546
Feature /codon: ggc -> agc; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: P14222; PERF_HUMAN: 149
Feature /change: G -> S
Diagnosis FHL2
Protein exp. no apparent proteolytic maturation
Age 8 mo
//
ID G149S(5),G149S(5); standard; MUTATION;
Accession P0095
Systematic name Allele 1 and 2: g.3718G>A, c.445G>A, r.445g>a, p.Gly149Ser
Description Allele 1 and 2: a point mutation in the exon 2 leading to
Description an amino acid change
Date 18-Jan-2006 (Rel. 1, Created)
Date 18-Jan-2006 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 16374518
RefAuthors Risma, K. A., Frayer, R. W., Filipovich, A. H., Sumegi, J.
RefTitle Aberrant maturation of mutant perforin underlies the
RefTitle clinical diversity of hemophagocytic lymphohistiocytosis.
RefLoc J Clin Invest 116:182-192 (2006)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0067: 3718
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0067: 546
Feature /codon: ggc -> agc; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P14222; PERF_HUMAN: 149
Feature /change: G -> S
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0067: 3718
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0067: 546
Feature /codon: ggc -> agc; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: P14222; PERF_HUMAN: 149
Feature /change: G -> S
Diagnosis FHL2
Protein exp. no apparent proteolytic maturation
Age 1
//
ID G149S(6),#A262X283(1); standard; MUTATION;
Accession P0099
Systematic name Allele 1: g.3718G>A, c.445G>A, r.445g>a, p.Gly149Ser
Systematic name Allele 2: g.5241_5256delCCAGGTCAACATAGGC,
Systematic name c.786_801delCCAGGTCAACATAGGC, r.786_801delccaggucaacauaggc,
Systematic name p.Gln263fsX21
Original code Patient 3
Description Allele 1: a point mutation in the exon 2 leading to an
Description amino acid change
Description Allele 2: a frame shift deletion in the exon 3 leading to a
Description premature stop codon
Date 05-Jun-2006 (Rel. 1, Created)
Date 05-Jun-2006 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 16278825
RefAuthors Zur Stadt, U., Beutel, K., Kolberg, S., Schneppenheim, R.,
RefAuthors Kabisch, H., Janka, G., Hennies, H. C.
RefTitle Mutation spectrum in children with primary hemophagocytic
RefTitle lymphohistiocytosis: molecular and functional analyses of
RefTitle PRF1, UNC13D, STX11, and RAB27A.
RefLoc Hum Mutat 27:62-68 (2006)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0067: 3718
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0067: 546
Feature /codon: ggc -> agc; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P14222; PERF_HUMAN: 149
Feature /change: G -> S
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0067: 5241..5256
Feature /change: -ccaggtcaac ataggc
Feature /genomic_region: exon; 3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0067: 887..902
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14222; PERF_HUMAN: 262..267
Feature /change: AQVNIG -> ASTAASLPKP RPVRRRRRST RX
Diagnosis FHL2
Ethnic origin Caucasoid; Germany
Parents Non-consanguineous
//
ID G149S(7),G149S(7); standard; MUTATION;
Accession P0100
Systematic name Allele 1 and 2: g.3718G>A, c.445G>A, r.445g>a, p.Gly149Ser
Original code Patient 16
Description Allele 1 and 2: a point mutation in the exon 2 leading to
Description an amino acid change
Date 05-Jun-2006 (Rel. 1, Created)
Date 05-Jun-2006 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 16278825
RefAuthors Zur Stadt, U., Beutel, K., Kolberg, S., Schneppenheim, R.,
RefAuthors Kabisch, H., Janka, G., Hennies, H. C.
RefTitle Mutation spectrum in children with primary hemophagocytic
RefTitle lymphohistiocytosis: molecular and functional analyses of
RefTitle PRF1, UNC13D, STX11, and RAB27A.
RefLoc Hum Mutat 27:62-68 (2006)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0067: 3718
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0067: 546
Feature /codon: ggc -> agc; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P14222; PERF_HUMAN: 149
Feature /change: G -> S
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0067: 3718
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0067: 546
Feature /codon: ggc -> agc; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: P14222; PERF_HUMAN: 149
Feature /change: G -> S
Diagnosis FHL2
Ethnic origin Caucasoid; Turkey
Parents Consanguineous
//
ID G149S(8),G149S(8); standard; MUTATION;
Accession P0130
Systematic name Allele 1 and 2: g.3718G>A, c.445G>A, r.445g>a, p.Gly149Ser
Original code UPN 95
Description Allele 1 and 2: A point mutation in the exon 2 leading to
Description an amino acid change
Date 22-May-2008 (Rel. 1, Created)
Date 22-May-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17873118
RefAuthors Trizzino, A., zur Stadt, U., Ueda, I., Risma, K., Janka,
RefAuthors G., Ishii, E., Beutel, K., Sumegi, J., Cannella, S.,
RefAuthors Pende, D., Mian, A., Henter, J. I., Griffiths, G.,
RefAuthors Santoro, A., Filipovich, A., Aricx, M.
RefTitle Genotype-phenotype study of familial haemophagocytic
RefTitle lymphohistiocytosis due to perforin mutations.
RefLoc J Med Genet:15-21 (2008)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0067: 3718
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0067; GI:129819; PRF1C: 546
Feature /codon: ggc -> agc; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P14222; PERF_HUMAN: 149
Feature /change: G -> S
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0067: 3718
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0067; GI:129819; PRF1C: 546
Feature /codon: ggc -> agc; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: P14222; PERF_HUMAN: 149
Feature /change: G -> S
Diagnosis Familial haemophagocytic lymphohistiocytosis (FHL2)
Age 9,5
Ethnic origin Caucasoid; Turkish
//
ID G149S(9),G149S(9); standard; MUTATION;
Accession P0131
Systematic name Allele 1 and 2: g.3718G>A, c.445G>A, r.445g>a, p.Gly149Ser
Original code UPN 140
Description Allele 1 and 2: A point mutation in the exon 2 leading to
Description an amino acid change
Date 22-May-2008 (Rel. 1, Created)
Date 22-May-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17873118
RefAuthors Trizzino, A., zur Stadt, U., Ueda, I., Risma, K., Janka,
RefAuthors G., Ishii, E., Beutel, K., Sumegi, J., Cannella, S.,
RefAuthors Pende, D., Mian, A., Henter, J. I., Griffiths, G.,
RefAuthors Santoro, A., Filipovich, A., Aricx, M.
RefTitle Genotype-phenotype study of familial haemophagocytic
RefTitle lymphohistiocytosis due to perforin mutations.
RefLoc J Med Genet:15-21 (2008)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0067: 3718
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0067; GI:129819; PRF1C: 546
Feature /codon: ggc -> agc; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P14222; PERF_HUMAN: 149
Feature /change: G -> S
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0067: 3718
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0067; GI:129819; PRF1C: 546
Feature /codon: ggc -> agc; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: P14222; PERF_HUMAN: 149
Feature /change: G -> S
Protein level Absent
Diagnosis Familial haemophagocytic lymphohistiocytosis (FHL2)
Age 3,25
Ethnic origin Caucasoid
//
ID G149S(10),G149S(10); standard; MUTATION;
Accession P0153
Systematic name Allele 1 and 2: g.3718G>A, c.445G>A, r.445g>a, p.Gly149Ser
Original code Case4
Description Allele 1 and 2: A point mutation in the exon 2 leading to
Description an amino acid change
Date 08-Jul-2010 (Rel. 1, Created)
Date 08-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 18190960
RefAuthors Okur, H., Balta, G., Akarsu, N., Oner, A., Patiroglu, T.,
RefAuthors Bay, A., Sayli, T., Unal, S., Gurgey, A.
RefTitle Clinical and molecular aspects of turkish familial
RefTitle hemophagocytic lymphohistiocytosis patients with perforin
RefTitle mutations.
RefLoc Leuk Res:972-975 (2008)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0067: 3718
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0067; GI:129819; PRF1C: 546
Feature /codon: ggc -> agc; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P14222; PERF_HUMAN: 149
Feature /change: G -> S
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0067: 3718
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0067; GI:129819; PRF1C: 546
Feature /codon: ggc -> agc; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: P14222; PERF_HUMAN: 149
Feature /change: G -> S
Diagnosis Familial haemophagocytic lymphohistiocytosis (FHL2)
Status quo Deceased
Age 1 mo
Sex XY
Ethnic origin Turkey
Parents Consanguineous
Family history Inherited
Symptoms Hematological abnormalities
Symptoms Cytopenia
Symptoms Pancytopenia
Symptoms Hypertriglyceridaemia
Symptoms Splenomegaly
Symptoms Fever
Treatment HLH-94
//
ID G149S(11),G149S(11); standard; MUTATION;
Accession P0154
Systematic name Allele 1 and 2: g.3718G>A, c.445G>A, r.445g>a, p.Gly149Ser
Original code Case5
Description Allele 1 and 2: A point mutation in the exon 2 leading to
Description an amino acid change
Date 08-Jul-2010 (Rel. 1, Created)
Date 08-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 18190960
RefAuthors Okur, H., Balta, G., Akarsu, N., Oner, A., Patiroglu, T.,
RefAuthors Bay, A., Sayli, T., Unal, S., Gurgey, A.
RefTitle Clinical and molecular aspects of turkish familial
RefTitle hemophagocytic lymphohistiocytosis patients with perforin
RefTitle mutations.
RefLoc Leuk Res:972-975 (2008)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0067: 3718
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0067; GI:129819; PRF1C: 546
Feature /codon: ggc -> agc; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P14222; PERF_HUMAN: 149
Feature /change: G -> S
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0067: 3718
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0067; GI:129819; PRF1C: 546
Feature /codon: ggc -> agc; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: P14222; PERF_HUMAN: 149
Feature /change: G -> S
Diagnosis Familial haemophagocytic lymphohistiocytosis (FHL2)
Status quo Deceased
Age 14 mo
Sex XX
Ethnic origin Turkey
Parents Consanguineous
Family history Inherited
Symptoms Hematological abnormalities
Symptoms Cytopenia
Symptoms Pancytopenia
Symptoms Hypertriglyceridaemia
Symptoms Splenomegaly
Symptoms Fever
Treatment HLH-2004
//
ID S150X(1),R225W(4); standard; MUTATION; ,TM2
Accession P0059
Systematic name Allele 1: g.3722C>A, c.449C>A, r.449c>a, p.Ser150X
Systematic name Allele 2: g.5128C>T, c.673C>T, r.673c>u, p.Arg225Trp
Original code P12
Description Allele 1: a point mutation in the exon 2 leading to a
Description premature stop codon
Description Allele 2: a point mutation in the exon 3 leading to an
Description amino acid change in the TM2 domain
Date 17-May-2004 (Rel. 1, Created)
Date 17-May-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 14757862
RefAuthors Molleran Lee, S., Villanueva, J., Sumegi, J., Zhang, K.,
RefAuthors Kogawa, K., Davis, J., Filipovich, A. H.
RefTitle Characterisation of diverse PRF1 mutations leading to
RefTitle decreased natural killer cell activity in north american
RefTitle families with haemophagocytic lymphohistiocytosis.
RefLoc J Med Genet 41:137-144 (2004)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0067: 3722
Feature /change: c -> a
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0067: 550
Feature /codon: tca -> taa; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14222; PERF_HUMAN: 150
Feature /change: S -> X
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0067: 5128
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0067: 774
Feature /codon: cgg -> tgg; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: P14222; PERF_HUMAN: 225
Feature /change: R -> W
Feature /domain: TM2
Diagnosis FHL2
Sex XX
Age 5
Ethnic origin Caucasoid
//
ID F157V(1),@L543X585(1); standard; MUTATION;
Accession P0045
Systematic name Allele 1: g.3742T>G, c.469T>G, r.469u>g, p.Phe157Val
Systematic name Allele 2: g.6083_6084insT, c.1628_1629insT,
Systematic name r.1628_1629insu, p.Glu545fsX41
Original code P23
Description Allele 1: a point mutation in the exon 2 leading to an
Description amino acid change
Description Allele 2: a frame shift insertion in the exon 3 leading to
Description elongation of the amino acid sequence
Date 17-May-2004 (Rel. 1, Created)
Date 17-May-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 14757862
RefAuthors Molleran Lee, S., Villanueva, J., Sumegi, J., Zhang, K.,
RefAuthors Kogawa, K., Davis, J., Filipovich, A. H.
RefTitle Characterisation of diverse PRF1 mutations leading to
RefTitle decreased natural killer cell activity in north american
RefTitle families with haemophagocytic lymphohistiocytosis.
RefLoc J Med Genet 41:137-144 (2004)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0067: 3742
Feature /change: t -> g
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0067: 570
Feature /codon: ttt -> gtt; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P14222; PERF_HUMAN: 157
Feature /change: F -> V
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: insertion
Feature /loc: IDRefSeq: D0067: 6084
Feature /change: +t
Feature /genomic_region: exon; 3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0067: 1730
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; elongation
Feature /loc: UniProt: P14222; PERF_HUMAN: 543
Feature /change: L ->
Feature /change: LGGASRKPEW GRVVRTVSLE RTSMLGLKGF SQWEPGLSSY SHX
Diagnosis FHL2
Sex XX
Age 2 mo
Ethnic origin Caucasoid
//
ID S168N(1),T450M(4); standard; MUTATION; ,C2
Accession P0143
Systematic name Allele 1: g.3776G>A, c.503G>A, r.503g>a, p.Ser168Asn
Systematic name Allele 2: g.5804C>T, c.1349C>T, r.1349c>u, p.Thr450Met
Description Allele 1: A point mutation in the exon 2 leading to an
Description amino acid change
Description Allele 2: A point mutation in the exon 3 leading to an
Description amino acid change in the C2 domain
Date 08-Jul-2010 (Rel. 1, Created)
Date 08-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20092789
RefAuthors Lu, G., Xie, Z. D., Shen, K. L., Ye, L. J., Wu, R. H.,
RefAuthors Liu, C. Y., Jin, Y. K., Yang, S.
RefTitle Mutations in the perforin gene in children with
RefTitle hemophagocytic lymphohistiocytosis.
RefLoc Chin Med J (Engl):2851-2855 (2009)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0067: 3776
Feature /change: g -> a
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0067; GI:129819; PRF1C: 604
Feature /codon: agc -> aac; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P14222; PERF_HUMAN: 168
Feature /change: S -> N
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0067: 5804
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0067; GI:129819; PRF1C: 1450
Feature /codon: acg -> atg; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: P14222; PERF_HUMAN: 450
Feature /change: T -> M
Feature /domain: C2
Diagnosis Familial haemophagocytic lymphohistiocytosis (FHL2)
Status quo Deceased
Age 6
Sex XX
Symptoms Hematological abnormalities
Symptoms Cytopenia
Symptoms Thrombocytopenia
Symptoms Lymphadenomegaly
Symptoms Hepatosplenomegaly
Symptoms Fever
Treatment Ganciclovir, steroids, interferon alpha,
Treatment IVIG
//
ID S168N(2),=; standard; MUTATION;
Accession P0145
Systematic name Allele 1: g.3776G>A, c.503G>A, r.503g>a, p.Ser168Asn
Description Allele 1: A point mutation in the exon 2 leading to
Description an amino acid change
Date 08-Jul-2010 (Rel. 1, Created)
Date 08-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20092789
RefAuthors Lu, G., Xie, Z. D., Shen, K. L., Ye, L. J., Wu, R. H.,
RefAuthors Liu, C. Y., Jin, Y. K., Yang, S.
RefTitle Mutations in the perforin gene in children with
RefTitle hemophagocytic lymphohistiocytosis.
RefLoc Chin Med J (Engl):2851-2855 (2009)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0067: 3776
Feature /change: g -> a
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0067; GI:129819; PRF1C: 604
Feature /codon: agc -> aac; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P14222; PERF_HUMAN: 168
Feature /change: S -> N
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: no mutation
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: no mutation
Feature aa; 6
Feature /rnalink: 5
Feature /name: no mutation
Diagnosis Chronic active EBV infection (CAEBV)
Status quo Deceased
Age 14
Sex XX
Symptoms Hematological abnormalities
Symptoms Cytopenia
Symptoms Lymphadenomegaly
Symptoms Hepatosplenomegaly
Symptoms Fever
Treatment Ganciclovir, interferon alpha, steroids,
Treatment IVIG
//
ID R177C(1),?; standard; MUTATION;
Accession P0114
Systematic name Allele 1: g.3802C>T, c.529C>T, r.529c>u, p.Arg177Cys
Original code Case No. 27
Description Allele 1: A point mutation in the exon 2 leading to
Description an amino acid change
Date 21-May-2008 (Rel. 1, Created)
Date 21-May-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17477373
RefAuthors Cannella, S., Santoro, A., Bruno, G., Pillon, M.,
RefAuthors Mussolin, L., Mangili, G., Rosolen, A., Aricx, M.
RefTitle Germline mutations of the perforin gene are a frequent
RefTitle occurrence in childhood anaplastic large cell lymphoma.
RefLoc Cancer:2566-2571 (2007)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0067: 3802
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0067; GI:129819; PRF1C: 630
Feature /codon: cgc -> tgc; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P14222; PERF_HUMAN: 177
Feature /change: R -> C
Diagnosis Anaplastic Large Cell Lymphoma (ALCL)
Sex XY
Ethnic origin Italian
//
ID V183G(1),C279Y(1); standard; MUTATION;
Accession P0007
Systematic name Allele 1: g.5003T>G, c.649T>G, p.V183G
Systematic name Allele 2: g.5291G>A, c.937G>A, p.C279Y
Original code P11
Description Allele 1: point mutation in the exon 3 leading to an amino
Description acid change
Description Allele 2: point mutation in the exon 3 leading to an amino
Description acid change
Date 23-Jun-2003 (Rel. 1, Created)
Date 23-Jun-2003 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 10583959
RefAuthors Stepp, S. E., Dufourcq-Lagelouse, R., Le Deist, F.,
RefAuthors Bhawan, S., Certain, S., Mathew, P. A., Henter, J. I.,
RefAuthors Bennett, M., Fischer, A., de Saint Basile, G., Kumar, V.
RefTitle Perforin gene defects in familial hemophagocytic
RefTitle lymphohistiocytosis.
RefLoc Science 286:1957-1959 (1999)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0067: 5003
Feature /change: t -> g
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0067: 649
Feature /codon: gtg -> ggg; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P14222; PERF_HUMAN: 183
Feature /change: V -> G
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0067: 5291
Feature /change: g -> a
Feature /genomic_region: exon; 3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0067: 937
Feature /codon: tgt -> tat; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: P14222; PERF_HUMAN: 279
Feature /change: C -> Y
Parents Non-consanguineous
//
ID F193L(1),R410P(1); standard; MUTATION; TM1,
Accession P0037
Systematic name Allele 1: g.5032T>C, c.577T>C, r.577u>c, p.Phe193Leu
Systematic name Allele 2: g.5684G>C, c.1229G>C, r.1229g>c, p.Arg410Pro
Original code 7-year-old white boy
Description Allele 1: a point mutation in the exon 3 leading to an
Description amino acid change in the TM1 domain
Description Allele 2: a point mutation in the exon 3 leading to an
Description amino acid change
Date 10-May-2004 (Rel. 1, Created)
Date 10-May-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 14576041
RefAuthors Katano, H., Ali, M. A., Patera, A. C., Catalfamo, M.,
RefAuthors Jaffe, E. S., Kimura, H., Dale, J. K., Straus, S. E.,
RefAuthors Cohen, J. I.
RefTitle Chronic active epstein-barr virus infection associated
RefTitle with mutations in perforin that impair its maturation.
RefLoc Blood 103:1244-1252 (2004)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0067: 5032
Feature /change: t -> c
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0067: 678
Feature /codon: ttc -> ctc; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P14222; PERF_HUMAN: 193
Feature /change: F -> L
Feature /domain: TM1
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0067: 5684
Feature /change: g -> c
Feature /genomic_region: exon; 3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0067: 1330
Feature /codon: cgg -> ccg; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: P14222; PERF_HUMAN: 410
Feature /change: R -> P
Diagnosis CAEBV
Protein exp. reduced levels of the native form of perforin
Sex XY
Ethnic origin Caucasoid
Status quo Deceased; cause of death: lymphoproliferative disease and
Status quo disseminated candida infection
Symptoms Hematological abnormalities
Symptoms Pancytopenia
Symptoms Hypertriglyceridaemia
Symptoms Hypofibrinogenaemia
Symptoms Lymphadenomegaly
Symptoms Hepatosplenomegaly
Symptoms Other clinical features: mononucleosis, histiocytosis with
Symptoms erythrophagocytosis, cholestatic hepatitis secondary to
Symptoms T-cell lymphoproliferative disease of the liver, cutaneous
Symptoms leukocytoplastic vasculitis, pneumonia, chronic sinusitis
Treatment IVIG, adriamycin, vincristine, prednosone,
Treatment cyclophosphamide, acyclovir
//
ID P201T(1),#K285-1(2); standard; MUTATION; TM1,
Accession P0101
Systematic name Allele 1: g.5056C>A, c.601C>A, r.601c>a, p.Pro201Thr
Systematic name Allele 2: g.5308_5310delAAG, c.853_855delAAG,
Systematic name r.853_855delaag, p.Lys285del
Original code Patient 17
Description Allele 1: a point mutation in the exon 3 leading to an
Description amino acid change in the TM1 domain
Description Allele 2: an inframe deletion in the exon 3 leading to an
Description amino acid change
Date 05-Jun-2006 (Rel. 1, Created)
Date 05-Jun-2006 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 16278825
RefAuthors Zur Stadt, U., Beutel, K., Kolberg, S., Schneppenheim, R.,
RefAuthors Kabisch, H., Janka, G., Hennies, H. C.
RefTitle Mutation spectrum in children with primary hemophagocytic
RefTitle lymphohistiocytosis: molecular and functional analyses of
RefTitle PRF1, UNC13D, STX11, and RAB27A.
RefLoc Hum Mutat 27:62-68 (2006)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0067: 5056
Feature /change: c -> a
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0067: 702
Feature /codon: ccc -> acc; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P14222; PERF_HUMAN: 201
Feature /change: P -> T
Feature /domain: TM1
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0067: 5308..5310
Feature /change: -aag
Feature /genomic_region: exon; 3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: inframe deletion
Feature /loc: IDRefSeq: C0067: 954..956
Feature aa; 6
Feature /rnalink: 5
Feature /name: deletion; inframe
Feature /loc: UniProt: P14222; PERF_HUMAN: 285
Feature /change: -K
Diagnosis FHL2
Ethnic origin Caucasoid; Turkey
Parents Non-consanguineous
//
ID Y219X(2),Y219X(2); standard; MUTATION; TM2,TM2
Accession P0018
Systematic name Allele 1 and 2: g.5112C>A, c.758C>A, p.Y219X
Original code Case 3
Description Allele 1 and 2: point mutation in the exon 3 leading to a
Description premature stop codon
Date 24-Jun-2003 (Rel. 1, Created)
Date 24-Jun-2003 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11565555
RefAuthors Clementi, R., zur Stadt, U., Savoldi, G., Varoitto, S.,
RefAuthors Conter, V., De Fusco, C., Notarangelo, L. D., Schneider,
RefAuthors M., Klersy, C., Janka, G., Danesino, C., Aricò, M.
RefTitle Six novel mutations in the PRF1 gene in children with
RefTitle haemophagocytic lymphohistiocytosis.
RefLoc J Med Genet 38:643-646 (2001)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0067: 5112
Feature /change: c -> a
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0067: 758
Feature /codon: tac -> taa; 3
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14222; PERF_HUMAN: 219
Feature /change: Y -> X
Feature /domain: TM2
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0067: 5112
Feature /change: c -> a
Feature /genomic_region: exon; 3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0067: 758
Feature /codon: tac -> taa; 3
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14222; PERF_HUMAN: 219
Feature /change: Y -> X
Feature /domain: TM2
Sex XY
Age 1,5 months
Ethnic origin Caucasoid; Italy
Parents Consanguineous
Symptoms Hematological abnormalities
Symptoms Hypertriglyceridaemia
Symptoms Hypofibrinogenaemia
Symptoms Hepatosplenomegaly
Symptoms Fever
Symptoms Other clinical features: absent NK activity
Haemoglobin 7.8 g/dl
Platelets 46 x1000/mm3
Treatment Bone marrow transplantation: Yes
Treatment Outcome: alive and well
Comment -!-asymptomatic 33+ mth after BMT
//
ID G220R(1),G220R(1); standard; MUTATION; TM2,TM2
Accession P0132
Systematic name Allele 1 and 2: g.5113G>C, c.658G>C, r.658g>c, p.Gly220Arg
Original code UPN 142
Description Allele 1 and 2: A point mutation in the exon 3 leading to
Description an amino acid change in the TM2 domain
Date 22-May-2008 (Rel. 1, Created)
Date 22-May-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17873118
RefAuthors Trizzino, A., zur Stadt, U., Ueda, I., Risma, K., Janka,
RefAuthors G., Ishii, E., Beutel, K., Sumegi, J., Cannella, S.,
RefAuthors Pende, D., Mian, A., Henter, J. I., Griffiths, G.,
RefAuthors Santoro, A., Filipovich, A., Aricx, M.
RefTitle Genotype-phenotype study of familial haemophagocytic
RefTitle lymphohistiocytosis due to perforin mutations.
RefLoc J Med Genet:15-21 (2008)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0067: 5113
Feature /change: g -> c
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0067; GI:129819; PRF1C: 759
Feature /codon: ggc -> cgc; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P14222; PERF_HUMAN: 220
Feature /change: G -> R
Feature /domain: TM2
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0067: 5113
Feature /change: g -> c
Feature /genomic_region: exon; 3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0067; GI:129819; PRF1C: 759
Feature /codon: ggc -> cgc; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: P14222; PERF_HUMAN: 220
Feature /change: G -> R
Feature /domain: TM2
Protein level Absent
Diagnosis Familial haemophagocytic lymphohistiocytosis (FHL2)
NK activity 0 %
Age 0,1
Ethnic origin Caucasoid
//
ID G220S(1),G220S(1); standard; MUTATION; TM2,TM2
Accession P0019
Systematic name Allele 1 and 2: g.5113G>A, c.759G>A, p.G220S
Original code Case 4
Description Allele 1 and 2: point mutation in the exon 3 leading to an
Description amino acid change
Date 24-Jun-2003 (Rel. 1, Created)
Date 24-Jun-2003 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11565555
RefAuthors Clementi, R., zur Stadt, U., Savoldi, G., Varoitto, S.,
RefAuthors Conter, V., De Fusco, C., Notarangelo, L. D., Schneider,
RefAuthors M., Klersy, C., Janka, G., Danesino, C., Aricò, M.
RefTitle Six novel mutations in the PRF1 gene in children with
RefTitle haemophagocytic lymphohistiocytosis.
RefLoc J Med Genet 38:643-646 (2001)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0067: 5113
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0067: 759
Feature /codon: ggc -> agc; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P14222; PERF_HUMAN: 220
Feature /change: G -> S
Feature /domain: TM2
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0067: 5113
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0067: 759
Feature /codon: ggc -> agc; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: P14222; PERF_HUMAN: 220
Feature /change: G -> S
Feature /domain: TM2
Sex XX
Age 1,5 months
Ethnic origin Caucasoid; Italy
Parents Consanguineous
Status quo Deceased; cause of death: infection
Symptoms Hematological abnormalities
Symptoms Neutropenia
Symptoms Hypertriglyceridaemia
Symptoms Hepatosplenomegaly
Symptoms Fever
Symptoms Oedema
Symptoms CSF pleiocytosis
Symptoms CNS alterations
Symptoms Other clinical features: absent NK activity
Haemoglobin 9.6 g/dl
Platelets 35 x1000/mm3
//
ID G220S(3),G220S(3); standard; MUTATION; TM2,TM2
Accession P0133
Systematic name Allele 1 and 2: g.5113G>A, c.658G>A, r.658g>a, p.Gly220Ser
Original code UPN 143
Description Allele 1 and 2: A point mutation in the exon 3 leading to
Description an amino acid change in the TM2 domain
Date 22-May-2008 (Rel. 1, Created)
Date 22-May-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17873118
RefAuthors Trizzino, A., zur Stadt, U., Ueda, I., Risma, K., Janka,
RefAuthors G., Ishii, E., Beutel, K., Sumegi, J., Cannella, S.,
RefAuthors Pende, D., Mian, A., Henter, J. I., Griffiths, G.,
RefAuthors Santoro, A., Filipovich, A., Aricx, M.
RefTitle Genotype-phenotype study of familial haemophagocytic
RefTitle lymphohistiocytosis due to perforin mutations.
RefLoc J Med Genet:15-21 (2008)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0067: 5113
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0067; GI:129819; PRF1C: 759
Feature /codon: ggc -> agc; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P14222; PERF_HUMAN: 220
Feature /change: G -> S
Feature /domain: TM2
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0067: 5113
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0067; GI:129819; PRF1C: 759
Feature /codon: ggc -> agc; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: P14222; PERF_HUMAN: 220
Feature /change: G -> S
Feature /domain: TM2
Diagnosis Familial haemophagocytic lymphohistiocytosis (FHL2)
NK activity 0 %
Age 0,2
Ethnic origin Caucasoid
//
ID G220S(4),G220S(4); standard; MUTATION; TM2,TM2
Accession P0134
Systematic name Allele 1 and 2: g.5113G>A, c.658G>A, r.658g>a, p.Gly220Ser
Original code UPN 72
Description Allele 1 and 2: A point mutation in the exon 3 leading to
Description an amino acid change in the TM2 domain
Date 22-May-2008 (Rel. 1, Created)
Date 22-May-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17873118
RefAuthors Trizzino, A., zur Stadt, U., Ueda, I., Risma, K., Janka,
RefAuthors G., Ishii, E., Beutel, K., Sumegi, J., Cannella, S.,
RefAuthors Pende, D., Mian, A., Henter, J. I., Griffiths, G.,
RefAuthors Santoro, A., Filipovich, A., Aricx, M.
RefTitle Genotype-phenotype study of familial haemophagocytic
RefTitle lymphohistiocytosis due to perforin mutations.
RefLoc J Med Genet:15-21 (2008)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0067: 5113
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0067; GI:129819; PRF1C: 759
Feature /codon: ggc -> agc; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P14222; PERF_HUMAN: 220
Feature /change: G -> S
Feature /domain: TM2
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0067: 5113
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0067; GI:129819; PRF1C: 759
Feature /codon: ggc -> agc; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: P14222; PERF_HUMAN: 220
Feature /change: G -> S
Feature /domain: TM2
Protein level Absent
Diagnosis Familial haemophagocytic lymphohistiocytosis (FHL2)
NK activity 0 %
Age 0,2
Ethnic origin Caucasoid
//
ID T221I(1),R225W(2); standard; MUTATION; TM2,TM2
Accession P0020
Systematic name Allele 1: g.5117C>T, c.763C>T, p.T221I
Systematic name Allele 2: g.5128C>T, c.774C>T, p.R225W
Original code Case 5
Description Allele 1: point mutation in the exon 3 leading to an amino
Description acid change
Description Allele 2: point mutation in the exon 3 leading to an amino
Description acid change
Date 24-Jun-2003 (Rel. 1, Created)
Date 24-Jun-2003 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11565555
RefAuthors Clementi, R., zur Stadt, U., Savoldi, G., Varoitto, S.,
RefAuthors Conter, V., De Fusco, C., Notarangelo, L. D., Schneider,
RefAuthors M., Klersy, C., Janka, G., Danesino, C., Aricò, M.
RefTitle Six novel mutations in the PRF1 gene in children with
RefTitle haemophagocytic lymphohistiocytosis.
RefLoc J Med Genet 38:643-646 (2001)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0067: 5117
Feature /change: c -> t
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0067: 763
Feature /codon: acc -> atc; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P14222; PERF_HUMAN: 221
Feature /change: T -> I
Feature /domain: TM2
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0067: 5128
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0067: 774
Feature /codon: cgg -> tgg; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: P14222; PERF_HUMAN: 225
Feature /change: R -> W
Feature /domain: TM2
Sex XX
Age 6 months
Ethnic origin Caucasoid; Italy
Parents Non-consanguineous
Status quo Deceased
Symptoms Hematological abnormalities
Symptoms Neutropenia
Symptoms Hypertriglyceridaemia
Symptoms Hypofibrinogenaemia
Symptoms Hepatosplenomegaly
Symptoms Fever
Symptoms Oedema
Symptoms Jaundice
Symptoms CNS alterations
Symptoms Other clinical features: upper respiratory infection,
Symptoms absent NK activity
Haemoglobin 8.4 g/dl
Platelets 58 x1000/mm3
//
ID H222Q(1),#P546X612(1); standard; MUTATION; TM2,
Accession P0049
Systematic name Allele 1: g.5121C>A, c.666C>A, r.666c>a, p.His222Gln
Systematic name Allele 2: g.6091delC, c.1636delC, r.1636delc, p.Pro546fsX67
Original code P28
Description Allele 1: a point mutation in the exon 3 leading to an
Description amino acid change in the TM2 domain
Description Allele 2: a frame shift deletion in the exon 3 leading to
Description elongation of the amino acid sequence
Date 17-May-2004 (Rel. 1, Created)
Date 17-May-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 14757862
RefAuthors Molleran Lee, S., Villanueva, J., Sumegi, J., Zhang, K.,
RefAuthors Kogawa, K., Davis, J., Filipovich, A. H.
RefTitle Characterisation of diverse PRF1 mutations leading to
RefTitle decreased natural killer cell activity in north american
RefTitle families with haemophagocytic lymphohistiocytosis.
RefLoc J Med Genet 41:137-144 (2004)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0067: 5121
Feature /change: c -> a
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0067: 767
Feature /codon: cac -> caa; 3
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P14222; PERF_HUMAN: 222
Feature /change: H -> Q
Feature /domain: TM2
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0067: 6091
Feature /change: -c
Feature /genomic_region: exon; 3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0067: 1737
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; elongation
Feature /loc: UniProt: P14222; PERF_HUMAN: 546
Feature /change: P ->
Feature /change: LQETGVGPCG ENSELGKDQY AWTEGVLTVG ARAVFVFPLD
Feature /change: QACPTRGPHA AQDGFECGPT QIRKLSX
Diagnosis FHL2
Sex XY
Age 3 mo
Ethnic origin Caucasoid
//
ID H222Q(2),R232H(2); standard; MUTATION; TM2,
Accession P0102
Systematic name Allele 1: g.5121C>A, c.666C>A, r.666c>a, p.His222Gln
Systematic name Allele 2: g.5150G>A, c.695G>A, r.695g>a, p.Arg232His
Original code Patient 18
Description Allele 1: a point mutation in the exon 3 leading to an
Description amino acid change in the TM2 domain
Description Allele 2: a point mutation in the exon 3 leading to an
Description amino acid change
Date 05-Jun-2006 (Rel. 1, Created)
Date 05-Jun-2006 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 16278825
RefAuthors Zur Stadt, U., Beutel, K., Kolberg, S., Schneppenheim, R.,
RefAuthors Kabisch, H., Janka, G., Hennies, H. C.
RefTitle Mutation spectrum in children with primary hemophagocytic
RefTitle lymphohistiocytosis: molecular and functional analyses of
RefTitle PRF1, UNC13D, STX11, and RAB27A.
RefLoc Hum Mutat 27:62-68 (2006)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0067: 5121
Feature /change: c -> a
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0067: 767
Feature /codon: cac -> caa; 3
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P14222; PERF_HUMAN: 222
Feature /change: H -> Q
Feature /domain: TM2
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0067: 5150
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0067: 796
Feature /codon: cgc -> cac; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: P14222; PERF_HUMAN: 232
Feature /change: R -> H
Diagnosis FHL2
Ethnic origin Caucasoid; Italy
Parents Non-consanguineous
//
ID H222Q(3),H222Q(3); standard; MUTATION; TM2,TM2
Accession P0119
Systematic name Allele 1 and 2: g.5121C>A, c.666C>A, r.666c>a, p.His222Gln
Original code P1
Description Allele 1 and 2: A point mutation in the exon 3 leading to
Description an amino acid change in the TM2 domain
Date 21-May-2008 (Rel. 1, Created)
Date 21-May-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17525286
RefAuthors Bryceson, Y. T., Rudd, E., Zheng, C., Edner, J., Ma, D.,
RefAuthors Wood, S. M., Bechensteen, A. G., Boelens, J. J., Celkan,
RefAuthors T., Farah, R. A., Hultenby, K., Winiarski, J., Roche, P.
RefAuthors A., Nordenskjold, M., Henter, J. I., Long, E. O.,
RefAuthors Ljunggren, H. G.
RefTitle Defective cytotoxic lymphocyte degranulation in syntaxin-
RefTitle 11 deficient familial hemophagocytic lymphohistiocytosis
RefTitle 4 (FHL4) patients.
RefLoc Blood:1906-1915 (2007)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0067: 5121
Feature /change: c -> a
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0067; GI:129819; PRF1C: 767
Feature /codon: cac -> caa; 3
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P14222; PERF_HUMAN: 222
Feature /change: H -> Q
Feature /domain: TM2
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0067: 5121
Feature /change: c -> a
Feature /genomic_region: exon; 3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0067; GI:129819; PRF1C: 767
Feature /codon: cac -> caa; 3
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: P14222; PERF_HUMAN: 222
Feature /change: H -> Q
Feature /domain: TM2
Diagnosis Familial haemophagocytic lymphohistiocytosis (FHL2)
Status quo Alive
Sex XX
Ethnic origin Netherlands
Parents Non-consanguineous
Symptoms Hematological abnormalities
Symptoms Pancytopenia
Symptoms Hypofibrinogenaemia
Symptoms Hemophagocytosis
Symptoms Splenomegaly
Treatment Bone marrow transplantation: Yes
Treatment Outcome: alive and well
//
ID H222Q(4),H222Q(4); standard; MUTATION; TM2,TM2
Accession P0135
Systematic name Allele 1 and 2: g.5121C>A, c.666C>A, r.666c>a, p.His222Gln
Original code UPN 94
Description Allele 1 and 2: A point mutation in the exon 3 leading to
Description an amino acid change in the TM2 domain
Date 22-May-2008 (Rel. 1, Created)
Date 22-May-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17873118
RefAuthors Trizzino, A., zur Stadt, U., Ueda, I., Risma, K., Janka,
RefAuthors G., Ishii, E., Beutel, K., Sumegi, J., Cannella, S.,
RefAuthors Pende, D., Mian, A., Henter, J. I., Griffiths, G.,
RefAuthors Santoro, A., Filipovich, A., Aricx, M.
RefTitle Genotype-phenotype study of familial haemophagocytic
RefTitle lymphohistiocytosis due to perforin mutations.
RefLoc J Med Genet:15-21 (2008)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0067: 5121
Feature /change: c -> a
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0067; GI:129819; PRF1C: 767
Feature /codon: cac -> caa; 3
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P14222; PERF_HUMAN: 222
Feature /change: H -> Q
Feature /domain: TM2
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0067: 5121
Feature /change: c -> a
Feature /genomic_region: exon; 3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0067; GI:129819; PRF1C: 767
Feature /codon: cac -> caa; 3
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: P14222; PERF_HUMAN: 222
Feature /change: H -> Q
Feature /domain: TM2
Diagnosis Familial haemophagocytic lymphohistiocytosis (FHL2)
Age 0,2
Ethnic origin Caucasoid
//
ID H222Q(5a),H222Q(5a); standard; MUTATION; TM2,TM2
Accession P0147
Systematic name Allele 1 and 2: g.5121C>A, c.666C>A, r.666c>a, p.His222Gln
Original code Case1
Description Allele 1 and 2: A point mutation in the exon 3 leading to
Description an amino acid change in the TM2 domain
Date 08-Jul-2010 (Rel. 1, Created)
Date 08-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 19595804
RefAuthors Vermeulen, M. J., de Haas, V., Mulder, M. F., Flohil, C.,
RefAuthors Fetter, W. P., van de Kamp, J. M.
RefTitle Hydrops fetalis and early neonatal multiple organ failure
RefTitle in familial hemophagocytic lymphohistiocytosis.
RefLoc Eur J Med Genet:417-420 (2009)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0067: 5121
Feature /change: c -> a
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0067; GI:129819; PRF1C: 767
Feature /codon: cac -> caa; 3
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P14222; PERF_HUMAN: 222
Feature /change: H -> Q
Feature /domain: TM2
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0067: 5121
Feature /change: c -> a
Feature /genomic_region: exon; 3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0067; GI:129819; PRF1C: 767
Feature /codon: cac -> caa; 3
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: P14222; PERF_HUMAN: 222
Feature /change: H -> Q
Feature /domain: TM2
Diagnosis Familial haemophagocytic lymphohistiocytosis (FHL2)
Status quo Deceased
Age 0
Sex XX
Ethnic origin Caucasoid
Parents Non-consanguineous
Relative PRF1base; P0148 brother
Symptoms Lymphadenomegaly
Symptoms Hepatosplenomegaly
Symptoms Other clinical features: Ascites, pleural and pericardial
Symptoms effusion
//
ID H222Q(5b),H222Q(5b); standard; MUTATION; TM2,TM2
Accession P0148
Systematic name Allele 1 and 2: g.5121C>A, c.666C>A, r.666c>a, p.His222Gln
Original code Case2
Description Allele 1 and 2: A point mutation in the exon 3 leading to
Description an amino acid change in the TM2 domain
Date 08-Jul-2010 (Rel. 1, Created)
Date 08-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 19595804
RefAuthors Vermeulen, M. J., de Haas, V., Mulder, M. F., Flohil, C.,
RefAuthors Fetter, W. P., van de Kamp, J. M.
RefTitle Hydrops fetalis and early neonatal multiple organ failure
RefTitle in familial hemophagocytic lymphohistiocytosis.
RefLoc Eur J Med Genet:417-420 (2009)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0067: 5121
Feature /change: c -> a
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0067; GI:129819; PRF1C: 767
Feature /codon: cac -> caa; 3
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P14222; PERF_HUMAN: 222
Feature /change: H -> Q
Feature /domain: TM2
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0067: 5121
Feature /change: c -> a
Feature /genomic_region: exon; 3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0067; GI:129819; PRF1C: 767
Feature /codon: cac -> caa; 3
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: P14222; PERF_HUMAN: 222
Feature /change: H -> Q
Feature /domain: TM2
Diagnosis Familial haemophagocytic lymphohistiocytosis (FHL2)
Status quo Deceased; cause of death: circulatory and respiratory
Status quo failure
Age 0
Sex XY
Ethnic origin Caucasoid
Parents Non-consanguineous
Relative PRF1base; P0147 sister
Symptoms Hematological abnormalities
Symptoms Coagulation abnormalities
Symptoms Lymphadenomegaly
Symptoms Hepatosplenomegaly
Symptoms Fever
Symptoms Oedema
Symptoms Jaundice
Symptoms Other clinical features: Pericardial effusion
//
ID H222R(1),?; standard; MUTATION; TM2,TM2
Accession P0043
Systematic name Allele 1: g.5120A>G, c.665A>G, r.665a>g, p.His222Arg
Original code P22
Description Allele 1: a point mutation in the exon 3 leading to
Description an amino acid change in the TM2 domain
Date 14-May-2004 (Rel. 1, Created)
Date 14-May-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 14757862
RefAuthors Molleran Lee, S., Villanueva, J., Sumegi, J., Zhang, K.,
RefAuthors Kogawa, K., Davis, J., Filipovich, A. H.
RefTitle Characterisation of diverse PRF1 mutations leading to
RefTitle decreased natural killer cell activity in north american
RefTitle families with haemophagocytic lymphohistiocytosis.
RefLoc J Med Genet 41:137-144 (2004)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0067: 5120
Feature /change: a -> g
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0067: 766
Feature /codon: cac -> cgc; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P14222; PERF_HUMAN: 222
Feature /change: H -> R
Feature /domain: TM2
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: unknown
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: unknown
Feature aa; 6
Feature /rnalink: 5
Feature /name: unknown
Diagnosis FHL2
Sex XY
Age 1 mo
Ethnic origin White/Asian
//
ID I224N(1),I224N(1); standard; MUTATION; TM2,TM2
Accession P0013
Systematic name Allele 1 and 2: g.5126T>A, c.772T>A, p.I224N
Original code Family 3
Description Allele 1 and 2: point mutation in the exon 3 leading to an
Description amino acid change
Date 23-Jun-2003 (Rel. 1, Created)
Date 23-Jun-2003 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11179007
RefAuthors Goransdotter Ericson, K., Fadeel, B., Nilsson-Ardnor, S.,
RefAuthors Soderhall, C., Samuelsson, A., Janka, G., Schneider, M.,
RefAuthors Gurgey, A., Yalman, N., Revesz, T., Egeler, R.,
RefAuthors Jahnukainen, K., Storm-Mathiesen, I., Haraldsson , A.,
RefAuthors Poole, J., de Saint Basile, G., Nordenskjold, M., Henter,
RefAuthors J.
RefTitle Spectrum of perforin gene mutations in familial
RefTitle hemophagocytic lymphohistiocytosis.
RefLoc Am J Hum Genet 68:590-597 (2001)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0067: 5126
Feature /change: t -> a
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0067: 772
Feature /codon: atc -> aac; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P14222; PERF_HUMAN: 224
Feature /change: I -> N
Feature /domain: TM2
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0067: 5126
Feature /change: t -> a
Feature /genomic_region: exon; 3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0067: 772
Feature /codon: atc -> aac; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: P14222; PERF_HUMAN: 224
Feature /change: I -> N
Feature /domain: TM2
Sex XX
Age 58 months
Ethnic origin Caucasoid; Sweden
Parents Consanguineous
Status quo Alive
Symptoms Hematological abnormalities
Symptoms Cytopenia
Symptoms Hemophagocytosis
Symptoms Splenomegaly
Symptoms Fever
Treatment Etoposide VP-16, corticosteroids, Cyclosporin A
Treatment Bone marrow transplantation: Yes
Treatment Outcome: alive and well
Treatment BMT-related problems: mild retardation
//
ID R225W(1),G429E(1); standard; MUTATION; TM2,C2
Accession P0005
Systematic name Allele 1: g.5128C>T, c.774C>T, p.R225W
Systematic name Allele 2: g.5741G>A, c.1387G>A, p.G429E
Original code P5
Description Allele 1: point mutation in the exon 3 leading to an amino
Description acid change
Description Allele 2: point mutation in the exon 3 leading to an amino
Description acid change in the C2 domain
Date 19-Jun-2003 (Rel. 1, Created)
Date 19-Jun-2003 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 10583959
RefAuthors Stepp, S. E., Dufourcq-Lagelouse, R., Le Deist, F.,
RefAuthors Bhawan, S., Certain, S., Mathew, P. A., Henter, J. I.,
RefAuthors Bennett, M., Fischer, A., de Saint Basile, G., Kumar, V.
RefTitle Perforin gene defects in familial hemophagocytic
RefTitle lymphohistiocytosis.
RefLoc Science 286:1957-1959 (1999)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0067: 5128
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0067: 774
Feature /codon: cgg -> tgg; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P14222; PERF_HUMAN: 225
Feature /change: R -> W
Feature /domain: TM2
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0067: 5741
Feature /change: g -> a
Feature /genomic_region: exon; 3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0067: 1387
Feature /codon: ggg -> gag; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: P14222; PERF_HUMAN: 429
Feature /change: G -> E
Feature /domain: C2
Parents Non-consanguineous
//
ID R225W(3),R225W(3); standard; MUTATION; TM2,TM2
Accession P0055
Systematic name Allele 1 and 2: g.5128C>T, c.673C>T, r.673c>u, p.Arg225Trp
Original code P57
Description Allele 1 and 2: a point mutation in the exon 3 leading to
Description an amino acid change in the TM2 domain
Date 17-May-2004 (Rel. 1, Created)
Date 17-May-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 14757862
RefAuthors Molleran Lee, S., Villanueva, J., Sumegi, J., Zhang, K.,
RefAuthors Kogawa, K., Davis, J., Filipovich, A. H.
RefTitle Characterisation of diverse PRF1 mutations leading to
RefTitle decreased natural killer cell activity in north american
RefTitle families with haemophagocytic lymphohistiocytosis.
RefLoc J Med Genet 41:137-144 (2004)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0067: 5128
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0067: 774
Feature /codon: cgg -> tgg; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P14222; PERF_HUMAN: 225
Feature /change: R -> W
Feature /domain: TM2
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0067: 5128
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0067: 774
Feature /codon: cgg -> tgg; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: P14222; PERF_HUMAN: 225
Feature /change: R -> W
Feature /domain: TM2
Diagnosis FHL2
Sex XY
Age 2
Ethnic origin Filipino
//
ID R225W(5),R225W(5); standard; MUTATION; TM2,TM2
Accession P0058
Systematic name Allele 1 and 2: g.5128C>T, c.673C>T, r.673c>u, p.Arg225Trp
Original code P29
Description Allele 1 and 2: a point mutation in the exon 3 leading to
Description an amino acid change in the TM2 domain
Date 17-May-2004 (Rel. 1, Created)
Date 17-May-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 14757862
RefAuthors Molleran Lee, S., Villanueva, J., Sumegi, J., Zhang, K.,
RefAuthors Kogawa, K., Davis, J., Filipovich, A. H.
RefTitle Characterisation of diverse PRF1 mutations leading to
RefTitle decreased natural killer cell activity in north american
RefTitle families with haemophagocytic lymphohistiocytosis.
RefLoc J Med Genet 41:137-144 (2004)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0067: 5128
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0067: 774
Feature /codon: cgg -> tgg; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P14222; PERF_HUMAN: 225
Feature /change: R -> W
Feature /domain: TM2
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0067: 5128
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0067: 774
Feature /codon: cgg -> tgg; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: P14222; PERF_HUMAN: 225
Feature /change: R -> W
Feature /domain: TM2
Diagnosis FHL2
Sex XX
Age 5
Ethnic origin Caucasoid
//
ID R225W(6),R225W(6); standard; MUTATION; TM2,TM2
Accession P0136
Systematic name Allele 1 and 2: g.5128C>T, c.673C>T, r.673c>u, p.Arg225Trp
Original code UPN 22
Description Allele 1 and 2: A point mutation in the exon 3 leading to
Description an amino acid change in the TM2 domain
Date 22-May-2008 (Rel. 1, Created)
Date 22-May-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17873118
RefAuthors Trizzino, A., zur Stadt, U., Ueda, I., Risma, K., Janka,
RefAuthors G., Ishii, E., Beutel, K., Sumegi, J., Cannella, S.,
RefAuthors Pende, D., Mian, A., Henter, J. I., Griffiths, G.,
RefAuthors Santoro, A., Filipovich, A., Aricx, M.
RefTitle Genotype-phenotype study of familial haemophagocytic
RefTitle lymphohistiocytosis due to perforin mutations.
RefLoc J Med Genet:15-21 (2008)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0067: 5128
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0067; GI:129819; PRF1C: 774
Feature /codon: cgg -> tgg; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P14222; PERF_HUMAN: 225
Feature /change: R -> W
Feature /domain: TM2
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0067: 5128
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0067; GI:129819; PRF1C: 774
Feature /codon: cgg -> tgg; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: P14222; PERF_HUMAN: 225
Feature /change: R -> W
Feature /domain: TM2
Diagnosis Familial haemophagocytic lymphohistiocytosis (FHL2)
NK activity 1 %
Age 5
Ethnic origin Caucasoid
//
ID R232C(1),@Q394X457(1); standard; MUTATION; ,EGF
Accession P0021
Systematic name Allele 1: g.5149C>T, c.795C>T, p.R232C
Systematic name Allele 2: g.5636_5637insT, c.1282_1283insT, p.Q394fsX457
Original code Case 6
Description Allele 1: point mutation in the exon 3 leading to an amino
Description acid change
Description Allele 2: frameshift insertion in the exon 3 leading to a
Description premature stop codon in the EGF domain
Date 24-Jun-2003 (Rel. 1, Created)
Date 24-Jun-2003 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11565555
RefAuthors Clementi, R., zur Stadt, U., Savoldi, G., Varoitto, S.,
RefAuthors Conter, V., De Fusco, C., Notarangelo, L. D., Schneider,
RefAuthors M., Klersy, C., Janka, G., Danesino, C., Aricò, M.
RefTitle Six novel mutations in the PRF1 gene in children with
RefTitle haemophagocytic lymphohistiocytosis.
RefLoc J Med Genet 38:643-646 (2001)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0067: 5149
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0067: 795
Feature /codon: cgc -> tgc; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P14222; PERF_HUMAN: 232
Feature /change: R -> C
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: insertion
Feature /loc: IDRefSeq: D0067: 5637
Feature /change: +t
Feature /genomic_region: exon; 3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0067: 1283
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14222; PERF_HUMAN: 394
Feature /change: Q
Feature /change: -> HVCVPWLSGH HPGLLPSAEG PGPAGGDLHP SMGPVGGLVH
Feature /change: CHGCLCEALL WWPGAEDEHR VGQX
Feature /domain: EGF
Sex XY
Age 6
Ethnic origin Caucasoid; Italy
Parents Non-consanguineous
Status quo Deceased
Symptoms Hematological abnormalities
Symptoms Neutropenia
Symptoms Hypertriglyceridaemia
Symptoms Hypofibrinogenaemia
Symptoms Lymphadenomegaly
Symptoms Hepatosplenomegaly
Symptoms Fever
Symptoms Infections:
Symptoms Viral: EBV
Symptoms Other clinical features: absent NK activity
Haemoglobin 5.2 g/dl
Platelets 12 x1000/mm3
//
ID R232C(2),@C397X420(1); standard; MUTATION; ,EGF
Accession P0038
Systematic name Allele 1: g.5149C>T, c.694C>T, r.694c>u, p.Arg232Cys
Systematic name Allele 2: g.5645_5646insTG, c.1190_1191insTG,
Systematic name r.1190_1191insug, p.His398fsX23
Description Allele 1: a point mutation in the exon 3 leading to an
Description amino acid change
Description Allele 2: a frame shift insertion in the exon 3 leading to
Description a premature stop codon in the EGF domain
Date 13-May-2004 (Rel. 1, Created)
Date 13-May-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12725560
RefAuthors Del Giudice, E., Savoldi, G., Notarangelo, L. D., Di
RefAuthors Benedetto, L., Manganelli, F., Bruzzese, E., Romano, A.,
RefAuthors Santoro, L.
RefTitle Acute inflammatory demyelinating polyradiculoneuropathy
RefTitle associated with perforin-deficient familial
RefTitle haemophagocytic lymphohistiocytosis.
RefLoc Acta Paediatr 92:398-401 (2003)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0067: 5149
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0067: 795
Feature /codon: cgc -> tgc; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P14222; PERF_HUMAN: 232
Feature /change: R -> C
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: insertion
Feature /loc: IDRefSeq: D0067: 5646
Feature /change: +tg
Feature /genomic_region: exon; 3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0067: 1292
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14222; PERF_HUMAN: 397
Feature /change: C -> CAMAQRSPPR TAALGRGAWP SWRX
Feature /domain: EGF
Diagnosis FHL2
Sex XY
Age 6
Status quo Deceased; cause of death: disseminated intravascular
Status quo coagulopathy
Symptoms Hematological abnormalities
Symptoms Pancytopenia
Symptoms Hypertriglyceridaemia
Symptoms Lymphadenomegaly
Symptoms Hepatosplenomegaly
Symptoms Fever
Symptoms Other clinical features: whooping cough, measles,
Symptoms chickenbox, rubella, progressive muscular weakness in the
Symptoms lower limbs with frequent falls, GBS associated with
Symptoms infectious mononucleosis, interstitial pneumonia, hepatic
Symptoms failure with coagulopathy
//
ID R232H(1a),?; standard; MUTATION;
Accession P0065
Systematic name Allele 1: g.5150G>A, c.695G>A, r.695g>a, p.Arg232His
Original code P27 first
Description Allele 1: a point mutation in the exon 3 leading to
Description an amino acid change
Date 04-Mar-2005 (Rel. 1, Created)
Date 04-Mar-2005 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12060139
RefAuthors Feldmann, J., Le Deist, F., Ouachee-Chardin, M., Certain,
RefAuthors S., Alexander, S., Quartier, P., Haddad, E., Wulffraat,
RefAuthors N., Casanova, J. L., Blanche, S., Fischer, A., de Saint
RefAuthors Basile, G.
RefTitle Functional consequences of perforin gene mutations in 22
RefTitle patients with familial haemophagocytic
RefTitle lymphohistiocytosis.
RefLoc Br J Haematol 117:965-972 (2002)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0067: 5150
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0067: 796
Feature /codon: cgc -> cac; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P14222; PERF_HUMAN: 232
Feature /change: R -> H
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: unknown
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: unknown
Feature aa; 6
Feature /rnalink: 5
Feature /name: unknown
Diagnosis FHL2
Protein exp. undetectable
Age 27 mo
Ethnic origin Caucasoid; Italy
Parents Non-consanguineous
Relative PRF1base; P0066;
//
ID R232H(1b),R232H(1b); standard; MUTATION;
Accession P0066
Systematic name Allele 1 and 2: g.5150G>A, c.695G>A, r.695g>a, p.Arg232His
Original code P27 second
Description Allele 1 and 2: a point mutation in the exon 3 leading to
Description an amino acid change
Date 04-Mar-2005 (Rel. 1, Created)
Date 04-Mar-2005 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12060139
RefAuthors Feldmann, J., Le Deist, F., Ouachee-Chardin, M., Certain,
RefAuthors S., Alexander, S., Quartier, P., Haddad, E., Wulffraat,
RefAuthors N., Casanova, J. L., Blanche, S., Fischer, A., de Saint
RefAuthors Basile, G.
RefTitle Functional consequences of perforin gene mutations in 22
RefTitle patients with familial haemophagocytic
RefTitle lymphohistiocytosis.
RefLoc Br J Haematol 117:965-972 (2002)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0067: 5150
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0067: 796
Feature /codon: cgc -> cac; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P14222; PERF_HUMAN: 232
Feature /change: R -> H
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0067: 5150
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0067: 796
Feature /codon: cgc -> cac; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: P14222; PERF_HUMAN: 232
Feature /change: R -> H
Diagnosis FHL2
Protein exp. undetectable
Age 144 mo
Ethnic origin Caucasoid; Italy
Parents Non-consanguineous
Relative PRF1base; P0065
//
ID R240G(1),R240G(1); standard; MUTATION;
Accession P0103
Systematic name Allele 1 and 2: g.5173C>G, c.718C>G, r.718c>g, p.Arg240Gly
Original code Patient 20
Description Allele 1 and 2: a point mutation in the exon 3 leading to
Description an amino acid change
Date 05-Jun-2006 (Rel. 1, Created)
Date 05-Jun-2006 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 16278825
RefAuthors Zur Stadt, U., Beutel, K., Kolberg, S., Schneppenheim, R.,
RefAuthors Kabisch, H., Janka, G., Hennies, H. C.
RefTitle Mutation spectrum in children with primary hemophagocytic
RefTitle lymphohistiocytosis: molecular and functional analyses of
RefTitle PRF1, UNC13D, STX11, and RAB27A.
RefLoc Hum Mutat 27:62-68 (2006)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0067: 5173
Feature /change: c -> g
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0067: 819
Feature /codon: cgc -> ggc; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P14222; PERF_HUMAN: 240
Feature /change: R -> G
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0067: 5173
Feature /change: c -> g
Feature /genomic_region: exon; 3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0067: 819
Feature /codon: cgc -> ggc; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: P14222; PERF_HUMAN: 240
Feature /change: R -> G
Diagnosis FHL2
Ethnic origin Caucasoid; Greece
Parents Consanguineous
//
ID N252S(4),?; standard; MUTATION;
Accession P0138
Systematic name Allele 1: g.5210A>G, c.755A>G, r.755a>g, p.Asn252Ser
Original code Patient 2
Description Allele 1: A point mutation in the exon 3 leading to an
Description amino acid change
Date 22-May-2008 (Rel. 1, Created)
Date 22-May-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 18198357
RefAuthors Orilieri, E., Cappellano, G., Clementi, R., Cometa, A.,
RefAuthors Ferretti, M., Cerutti, E., Cadario, F., Martinetti, M.,
RefAuthors Larizza, D., Calcaterra, V., D'Annunzio, G., Lorini, R.,
RefAuthors Cerutti, F., Bruno, G., Chiocchetti, A., Dianzani, U.
RefTitle Variations of the perforin gene in patients with type 1
RefTitle diabetes.
RefLoc Diabetes:1078-1083 (2008)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0067: 5210
Feature /change: a -> g
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0067; GI:129819; PRF1C: 856
Feature /codon: aac -> agc; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P14222; PERF_HUMAN: 252
Feature /change: N -> S
Protein level Reduced
Diagnosis Diabetes Type 1
Ethnic origin Caucasoid; Italy
//
ID N252S(3),=; standard; MUTATION;
Accession P0137
Systematic name Allele 1: g.5210A>G, c.755A>G, r.755a>g, p.Asn252Ser
Original code Patient 1
Description Allele 1: A point mutation in the exon 3 leading to an
Description amino acid change
Description Allele 2: A point mutation in the exon 3 leading to an
Description amino acid change
Date 22-May-2008 (Rel. 1, Created)
Date 22-May-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 18198357
RefAuthors Orilieri, E., Cappellano, G., Clementi, R., Cometa, A.,
RefAuthors Ferretti, M., Cerutti, E., Cadario, F., Martinetti, M.,
RefAuthors Larizza, D., Calcaterra, V., D'Annunzio, G., Lorini, R.,
RefAuthors Cerutti, F., Bruno, G., Chiocchetti, A., Dianzani, U.
RefTitle Variations of the perforin gene in patients with type 1
RefTitle diabetes.
RefLoc Diabetes:1078-1083 (2008)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0067: 5210
Feature /change: a -> g
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0067; GI:129819; PRF1C: 856
Feature /codon: aac -> agc; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P14222; PERF_HUMAN: 252
Feature /change: N -> S
Protein level Normal
Diagnosis Diabetes Type 1
Ethnic origin Caucasoid; Italy
Family history Inherited
Symptoms Other clinical features: defective NK activity
//
ID N252S(1),?; standard; MUTATION;
Accession P0008
Systematic name Allele 1: g.5210A>G, c.856A>G, p.N252S
Original code P25
Description Allele 1: point mutation in the exon 3 leading to an
Description amino acid change
Date 19-Jun-2003 (Rel. 1, Created)
Date 19-Jun-2003 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 10583959
RefAuthors Stepp, S. E., Dufourcq-Lagelouse, R., Le Deist, F.,
RefAuthors Bhawan, S., Certain, S., Mathew, P. A., Henter, J. I.,
RefAuthors Bennett, M., Fischer, A., de Saint Basile, G., Kumar, V.
RefTitle Perforin gene defects in familial hemophagocytic
RefTitle lymphohistiocytosis.
RefLoc Science 286:1957-1959 (1999)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0067: 5210
Feature /change: a -> g
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0067: 856
Feature /codon: aac -> agc; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P14222; PERF_HUMAN: 252
Feature /change: N -> S
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: unknown
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: unknown
Feature aa; 6
Feature /rnalink: 5
Feature /name: unknown
Parents Non-consanguineous
//
ID N252S(2),?; standard; MUTATION;
Accession P0092
Systematic name Allele 1: g.5210A>G, c.755A>G, r.755a>g, p.Asn252Ser
Original code Pt 11
Description Allele 1: a point mutation in the exon 3 leading to
Description an amino acid change
Date 17-Aug-2005 (Rel. 1, Created)
Date 17-Aug-2005 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15728124
RefAuthors Clementi, R., Locatelli, F., Dupre, L., Garaventa, A.,
RefAuthors Emmi, L., Bregni, M., Cefalo, G., Moretta, A., Danesino,
RefAuthors C., Comis, M., Pession, A., Ramenghi, U., Maccario, R.,
RefAuthors Aricx, M., Roncarolo, M. G.
RefTitle A proportion of patients with lymphoma may harbor
RefTitle mutations of the perforin gene.
RefLoc Blood 105:4424-4428 (2005)
RefNumber [2]
RefCrossRef PUBMED; 15459303
RefAuthors Clementi, R., Dagna, L., Dianzani, U., Dupre, L.,
RefAuthors Dianzani, I., Ponzoni, M., Cometa, A., Chiocchetti, A.,
RefAuthors Sabbadini, M. G., Rugarli, C., Ciceri, F., Maccario, R.,
RefAuthors Locatelli, F., Danesino, C., Ferrarini, M., Bregni, M.
RefTitle Inherited perforin and fas mutations in a patient with
RefTitle autoimmune lymphoproliferative syndrome and lymphoma.
RefLoc N Engl J Med 351:1419-1424 (2004)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0067: 5210
Feature /change: a -> g
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0067: 856
Feature /codon: aac -> agc; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P14222; PERF_HUMAN: 252
Feature /change: N -> S
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: unknown
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: unknown
Feature aa; 6
Feature /rnalink: 5
Feature /name: unknown
Sex XY
Ethnic origin Caucasoid
Status quo Deceased
Symptoms Hematological abnormalities
Symptoms Thrombocytopenia
Symptoms Lymphadenomegaly
Symptoms Splenomegaly
Symptoms Other clinical features: B-cell non-Hodgkin lymphoma, ALPS,
Symptoms itching, weight loss, liver disease, cervical
Symptoms lymphadenopathy
Comment -!-Patient has ALPS and a heterozygous IVS7+1G>A mutation
Comment -!-in the Fas gene
//
ID E261K(1),E261K(1); standard; MUTATION;
Accession P0069
Systematic name Allele 1 and 2: g.5236G>A, c.781G>A, r.781g>a, p.Glu261Lys
Original code Patient 82
Description Allele 1 and 2: a point mutation in the exon 3 leading to
Description an amino acid change
Date 07-Mar-2005 (Rel. 1, Created)
Date 07-Mar-2005 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12060139
RefAuthors Feldmann, J., Le Deist, F., Ouachee-Chardin, M., Certain,
RefAuthors S., Alexander, S., Quartier, P., Haddad, E., Wulffraat,
RefAuthors N., Casanova, J. L., Blanche, S., Fischer, A., de Saint
RefAuthors Basile, G.
RefTitle Functional consequences of perforin gene mutations in 22
RefTitle patients with familial haemophagocytic
RefTitle lymphohistiocytosis.
RefLoc Br J Haematol 117:965-972 (2002)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0067: 5236
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0067: 882
Feature /codon: gag -> aag; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P14222; PERF_HUMAN: 261
Feature /change: E -> K
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0067: 5236
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0067: 882
Feature /codon: gag -> aag; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: P14222; PERF_HUMAN: 261
Feature /change: E -> K
Diagnosis FHL2
Protein exp. undetectable
Ethnic origin Caucasoid; Algeria
Parents Consanguineous
//
ID #K284-4(1),#K284-4(1); standard; MUTATION;
Accession P0064
Systematic name Allele 1 and 2: g.5306_5317delAGAAGCACAAGA,
Systematic name c.851_862delAGAAGCACAAGA, r.851_862delagaagcacaaga,
Systematic name p.Lys284del
Original code AR
Description Allele 1 and 2: an inframe deletion in the exon 3 leading
Description to an amino acid change
Date 28-Feb-2005 (Rel. 1, Created)
Date 28-Feb-2005 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15609274
RefAuthors Muralitharan, S., Al Lamki, Z., Dennison, D., Christie, B.
RefAuthors S., Wali, Y. A., Zachariah, M., Romana, M., Bayoumi, R.,
RefAuthors Krishnamoorthy, R.
RefTitle An inframe perforin gene deletion in familial
RefTitle hemophagocytic lymphohistiocytosis is associated with
RefTitle perforin expression.
RefLoc Am J Hematol 78:59-63 (2005)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0067: 5306..5317
Feature /change: -agaagcacaa ga
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: inframe deletion
Feature /loc: IDRefSeq: C0067: 952..963
Feature aa; 3
Feature /rnalink: 2
Feature /name: deletion; inframe
Feature /loc: UniProt: P14222; PERF_HUMAN: 284..288
Feature /change: KKHKM -> M
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0067: 5306..5317
Feature /change: -agaagcacaa ga
Feature /genomic_region: exon; 3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: inframe deletion
Feature /loc: IDRefSeq: C0067: 952..963
Feature aa; 6
Feature /rnalink: 5
Feature /name: deletion; inframe
Feature /loc: UniProt: P14222; PERF_HUMAN: 284..288
Feature /change: KKHKM -> M
Diagnosis FHL2
Sex XY
Ethnic origin Caucasoid; Oman
Parents Consanguineous
Symptoms Hematological abnormalities
Symptoms Pancytopenia
Symptoms Coagulation abnormalities
Symptoms Hepatosplenomegaly
Symptoms Fever
//
ID #K285-1(1),#K285-1(1); standard; MUTATION;
Accession P0015
Systematic name Allele 1 and 2: g.5308_5310delAAG, c.954_956delAAG,
Systematic name p.K285del
Original code Family 33; #K285-0
Description Allele 1 and 2: deletion in the exon 3 leading to an amino
Description acid change
Date 23-Jun-2003 (Rel. 1, Created)
Date 23-Jun-2003 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11179007
RefAuthors Goransdotter Ericson, K., Fadeel, B., Nilsson-Ardnor, S.,
RefAuthors Soderhall, C., Samuelsson, A., Janka, G., Schneider, M.,
RefAuthors Gurgey, A., Yalman, N., Revesz, T., Egeler, R.,
RefAuthors Jahnukainen, K., Storm-Mathiesen, I., Haraldsson , A.,
RefAuthors Poole, J., de Saint Basile, G., Nordenskjold, M., Henter,
RefAuthors J.
RefTitle Spectrum of perforin gene mutations in familial
RefTitle hemophagocytic lymphohistiocytosis.
RefLoc Am J Hum Genet 68:590-597 (2001)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0067: 5308..5310
Feature /change: -aag
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: inframe deletion
Feature /loc: IDRefSeq: C0067: 954..956
Feature aa; 3
Feature /rnalink: 2
Feature /name: deletion; inframe
Feature /loc: UniProt: P14222; PERF_HUMAN: 285
Feature /change: -K
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0067: 5308..5310
Feature /change: -aag
Feature /genomic_region: exon; 3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: inframe deletion
Feature /loc: IDRefSeq: C0067: 954..956
Feature aa; 6
Feature /rnalink: 5
Feature /name: deletion; inframe
Feature /loc: UniProt: P14222; PERF_HUMAN: 285
Feature /change: -K
Sex XX
Age 3 months
Ethnic origin Caucasoid; Turkey
Status quo Deceased
Symptoms Hematological abnormalities
Symptoms Cytopenia
Symptoms Hemophagocytosis
Symptoms Splenomegaly
Symptoms Fever
Treatment No treatment
Treatment No bone marrow transplantation
//
ID G305D(1),R356W(1); standard; MUTATION;
Accession P0088
Systematic name Allele 1: g.5369G>A, c.914G>A, r.914g>a, p.Gly305Asp
Systematic name Allele 2: g.5521C>T, c.1066C>T, r.1066c>u, p.Arg356Trp
Original code Pt 4
Description Allele 1: a point mutation in the exon 3 leading to an
Description amino acid change
Description Allele 2: a point mutation in the exon 3 leading to an
Description amino acid change
Date 16-Aug-2005 (Rel. 1, Created)
Date 16-Aug-2005 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15728124
RefAuthors Clementi, R., Locatelli, F., Dupre, L., Garaventa, A.,
RefAuthors Emmi, L., Bregni, M., Cefalo, G., Moretta, A., Danesino,
RefAuthors C., Comis, M., Pession, A., Ramenghi, U., Maccario, R.,
RefAuthors Aricx, M., Roncarolo, M. G.
RefTitle A proportion of patients with lymphoma may harbor
RefTitle mutations of the perforin gene.
RefLoc Blood 105:4424-4428 (2005)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0067: 5369
Feature /change: g -> a
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0067: 1015
Feature /codon: ggc -> gac; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P14222; PERF_HUMAN: 305
Feature /change: G -> D
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0067: 5521
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0067: 1167
Feature /codon: cgg -> tgg; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: P14222; PERF_HUMAN: 356
Feature /change: R -> W
Diagnosis FHL2
Sex XX
Age 18
Ethnic origin Caucasoid
Status quo Alive
Symptoms Hematological abnormalities
Symptoms Hemophagocytosis
Symptoms Hepatosplenomegaly
Symptoms Fever
Symptoms Other clinical features: Peripheral T-cell non-Hodgkin
Symptoms lymphoma associated with bone marrow infiltration
Treatment Bone marrow transplantation: Yes
Treatment Donor: matched sibling
Treatment Outcome: alive and well
//
ID G306S(1),#L364X456(8); standard; MUTATION;
Accession P0140
Systematic name Allele 1: g.5371G>A, c.916G>A, r.916g>a, p.Gly306Ser
Systematic name Allele 2: g.5545_5546delCT, c.1090_1091delCT,
Systematic name r.1090_1091delcu, p.Leu364fsX93
Description Allele 1: A point mutation in the exon 3 leading to an
Description amino acid change
Description Allele 2: A frame shift deletion mutation in the exon 3
Description leading to a premature stop codon
Date 05-Jun-2008 (Rel. 1, Created)
Date 05-Jun-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17606450
RefAuthors Nagafuji, K., Nonami, A., Kumano, T., Kikushige, Y.,
RefAuthors Yoshimoto, G., Takenaka, K., Shimoda, K., Ohga, S.,
RefAuthors Yasukawa, M., Horiuchi, H., Ishii, E., Harada, M.
RefTitle Perforin gene mutations in adult-onset hemophagocytic
RefTitle lymphohistiocytosis.
RefLoc Haematologica:978-981 (2007)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0067: 5371
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0067; GI:129819; PRF1C: 1017
Feature /codon: ggc -> agc; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P14222; PERF_HUMAN: 306
Feature /change: G -> S
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0067: 5545..5546
Feature /change: -ct
Feature /genomic_region: exon; 3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0067; GI:129819; PRF1C: 1191..1192
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14222; PERF_HUMAN: 364
Feature /change: L ->
Feature /change: ESVPDGQGSL EGLQPAVPTR AAEEPPRPMP VCVPWLSGHH
Feature /change: PGLLPSAEGP GPAGGDLHPS MGPVGGLVHC HGCLCEALLW
Feature /change: WPGAEDEHRV GQX
Diagnosis Familial haemophagocytic lymphohistiocytosis (FHL2)
Status quo Alive
Age 62
Sex XY
Ethnic origin Mongoloid; Japan
Symptoms Hematological abnormalities
Symptoms Pancytopenia
Symptoms Hemophagocytosis
Symptoms Hepatosplenomegaly
Symptoms Fever
Symptoms Infections:
Symptoms Viral: HSV; CMV; EBV; parvovirus B19
Symptoms Other clinical features: upper respiratory infections,
Symptoms tuberculosis-related pleurisy at the age of 23
Treatment No bone marrow transplantation
//
ID G317R(2),D430Y(1); standard; MUTATION; ,C2
Accession P0141
Systematic name Allele 1: g.5404G>A, c.949G>A, r.949g>a, p.Gly317Arg
Systematic name Allele 2: g.5743G>T, c.1288G>T, r.1288g>u, p.Asp430Tyr
Original code P.2
Description Allele 1: A point mutation in the exon 3 leading to an
Description amino acid change
Description Allele 2: A point mutation in the exon 3 leading to an
Description amino acid change in the C2 domain
Date 08-Jul-2010 (Rel. 1, Created)
Date 08-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17525286
RefAuthors Bryceson, Y. T., Rudd, E., Zheng, C., Edner, J., Ma, D.,
RefAuthors Wood, S. M., Bechensteen, A. G., Boelens, J. J., Celkan,
RefAuthors T., Farah, R. A., Hultenby, K., Winiarski, J., Roche, P.
RefAuthors A., Nordenskjold, M., Henter, J. I., Long, E. O.,
RefAuthors Ljunggren, H. G.
RefTitle Defective cytotoxic lymphocyte degranulation in syntaxin-
RefTitle 11 deficient familial hemophagocytic lymphohistiocytosis
RefTitle 4 (FHL4) patients.
RefLoc Blood:1906-1915 (2007)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0067: 5404
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0067; GI:129819; PRF1C: 1050
Feature /codon: ggg -> agg; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P14222; PERF_HUMAN: 317
Feature /change: G -> R
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0067: 5743
Feature /change: g -> t
Feature /genomic_region: exon; 3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0067; GI:129819; PRF1C: 1389
Feature /codon: gac -> tac; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: P14222; PERF_HUMAN: 430
Feature /change: D -> Y
Feature /domain: C2
Diagnosis Familial haemophagocytic lymphohistiocytosis (FHL2)
Status quo Deceased
Age 0
Sex XY
Ethnic origin Sweden
Parents Non-consanguineous
Symptoms Hematological abnormalities
Symptoms Pancytopenia
Symptoms Hypertriglyceridaemia
Symptoms Hypofibrinogenaemia
Symptoms Splenomegaly
Symptoms Fever
//
ID P345L(1),P345L(1); standard; MUTATION;
Accession P0006
Systematic name Allele 1 and 2: g.5489C>T, c.1135C>T, p.P345L
Original code P6
Description Allele 1 and 2: point mutation in the exon 3 leading to an
Description amino acid change
Date 19-Jun-2003 (Rel. 1, Created)
Date 19-Jun-2003 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 10583959
RefAuthors Stepp, S. E., Dufourcq-Lagelouse, R., Le Deist, F.,
RefAuthors Bhawan, S., Certain, S., Mathew, P. A., Henter, J. I.,
RefAuthors Bennett, M., Fischer, A., de Saint Basile, G., Kumar, V.
RefTitle Perforin gene defects in familial hemophagocytic
RefTitle lymphohistiocytosis.
RefLoc Science 286:1957-1959 (1999)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0067: 5489
Feature /change: c -> t
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0067: 1135
Feature /codon: ccc -> ctc; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P14222; PERF_HUMAN: 345
Feature /change: P -> L
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0067: 5489
Feature /change: c -> t
Feature /genomic_region: exon; 3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0067: 1135
Feature /codon: ccc -> ctc; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: P14222; PERF_HUMAN: 345
Feature /change: P -> L
Parents Consanguineous
//
ID #R361X364(1a),C497X(1a); standard; MUTATION; ,C2
Accession P0026
Systematic name Allele 1: g.5538delG, c.1184delG, p.R361fsX364
Systematic name Allele 2: g.5946T>A, c.1592T>A, p.C497X
Original code Patient 1
Description Allele 1: deletion in the exon 3 leading to a premature
Description stop codon
Description Allele 2: point mutation in the exon 3 leading to a
Description premature stop codon in the C2 domain
Date 25-Jun-2003 (Rel. 1, Created)
Date 25-Jun-2003 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11841437
RefAuthors Suga, N., Takada, H., Nomura, A., Ohga, S., Ishii, E.,
RefAuthors Ihara, K., Ohshima, K., Hara, T.
RefTitle Perforin defects of primary haemophagocytic
RefTitle lymphohistiocytosis in japan.
RefLoc Br J Haematol 116:346-349 (2002)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0067: 5538
Feature /change: -g
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0067: 1184
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14222; PERF_HUMAN: 361
Feature /change: R -> RGPX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0067: 5946
Feature /change: t -> a
Feature /genomic_region: exon; 3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0067: 1592
Feature /codon: tgt -> tga; 3
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14222; PERF_HUMAN: 497
Feature /change: C -> X
Feature /domain: C2
Sex XX
Age 1 month
Ethnic origin Mongoloid; Japan
Parents Non-consanguineous
Relative PRF1base; P0027 brother
Relative PRF1base; P0028 sister
Status quo Deceased
Treatment VP16, etoposide; PSL, prednisolone
//
ID #R361X364(1b),C497X(1b); standard; MUTATION; ,C2
Accession P0027
Systematic name Allele 1: g.5538delG, c.1184delG, p.R361fsX364
Systematic name Allele 2: g.5946T>A, c.1592T>A, p.C497X
Description Allele 1: deletion in the exon 3 leading to a premature
Description stop codon
Description Allele 2: point mutation in the exon 3 leading to a
Description premature stop codon in the C2 domain
Date 25-Jun-2003 (Rel. 1, Created)
Date 25-Jun-2003 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11841437
RefAuthors Suga, N., Takada, H., Nomura, A., Ohga, S., Ishii, E.,
RefAuthors Ihara, K., Ohshima, K., Hara, T.
RefTitle Perforin defects of primary haemophagocytic
RefTitle lymphohistiocytosis in japan.
RefLoc Br J Haematol 116:346-349 (2002)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0067: 5538
Feature /change: -g
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0067: 1184
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14222; PERF_HUMAN: 361
Feature /change: R -> RGPX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0067: 5946
Feature /change: t -> a
Feature /genomic_region: exon; 3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0067: 1592
Feature /codon: tgt -> tga; 3
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14222; PERF_HUMAN: 497
Feature /change: C -> X
Feature /domain: C2
Sex XY
Ethnic origin Mongoloid; Japan
Parents Non-consanguineous
Relative PRF1base; P0026 sister
Relative PRF1base; P0028 sister
Status quo Deceased
//
ID #R361X364(1c),C497X(1c); standard; MUTATION; ,C2
Accession P0028
Systematic name Allele 1: g.5538delG, c.1184delG, p.R361fsX364
Systematic name Allele 2: g.5946T>A, c.1592T>A, p.C497X
Description Allele 1: deletion in the exon 3 leading to a premature
Description stop codon
Description Allele 2: point mutation in the exon 3 leading to a
Description premature stop codon in the C2 domain
Date 25-Jun-2003 (Rel. 1, Created)
Date 25-Jun-2003 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11841437
RefAuthors Suga, N., Takada, H., Nomura, A., Ohga, S., Ishii, E.,
RefAuthors Ihara, K., Ohshima, K., Hara, T.
RefTitle Perforin defects of primary haemophagocytic
RefTitle lymphohistiocytosis in japan.
RefLoc Br J Haematol 116:346-349 (2002)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0067: 5538
Feature /change: -g
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0067: 1184
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14222; PERF_HUMAN: 361
Feature /change: R -> RGPX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0067: 5946
Feature /change: t -> a
Feature /genomic_region: exon; 3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0067: 1592
Feature /codon: tgt -> tga; 3
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14222; PERF_HUMAN: 497
Feature /change: C -> X
Feature /domain: C2
Sex XX
Ethnic origin Mongoloid; Japan
Parents Non-consanguineous
Relative PRF1base; P0026 sister
Relative PRF1base; P0027 brother
Status quo Deceased
//
ID #L364X456(1a),?; standard; MUTATION;
Accession P0030
Systematic name Allele 1: g.5545_5546delCT, c.1191_1192delCT,
Systematic name p.L364fsX456
Original code Patient 2
Description Allele 1: deletion in the exon 3 leading to a
Description premature stop codon
Date 25-Jun-2003 (Rel. 1, Created)
Date 25-Jun-2003 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11841437
RefAuthors Suga, N., Takada, H., Nomura, A., Ohga, S., Ishii, E.,
RefAuthors Ihara, K., Ohshima, K., Hara, T.
RefTitle Perforin defects of primary haemophagocytic
RefTitle lymphohistiocytosis in japan.
RefLoc Br J Haematol 116:346-349 (2002)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0067: 5545..5546
Feature /change: -ct
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0067: 1191..1192
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14222; PERF_HUMAN: 364
Feature /change: L
Feature /change: -> ESVPDGQGSL EGLQPAVPTR AAEEPPRPMP VCVPWLSGHH
Feature /change: PGLLPSAEGP GPAGGDLHPS MGPVGGLVHC HGCLCEALLW
Feature /change: WPGAEDEHRV GQX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: unknown
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: unknown
Feature aa; 6
Feature /rnalink: 5
Feature /name: unknown
Sex XY
Age 1 month
Ethnic origin Mongoloid; Japan
Parents Non-consanguineous
Relative PRF1base; P0031; brother
Status quo Deceased
Treatment Bone marrow transplantation: Yes
//
ID #L364X456(1b),?; standard; MUTATION;
Accession P0031
Systematic name Allele 1: g.5545_5546delCT, c.1191_1192delCT,
Systematic name p.L364fsX456
Description Allele 1: deletion in the exon 3 leading to a
Description premature stop codon
Date 25-Jun-2003 (Rel. 1, Created)
Date 25-Jun-2003 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11841437
RefAuthors Suga, N., Takada, H., Nomura, A., Ohga, S., Ishii, E.,
RefAuthors Ihara, K., Ohshima, K., Hara, T.
RefTitle Perforin defects of primary haemophagocytic
RefTitle lymphohistiocytosis in japan.
RefLoc Br J Haematol 116:346-349 (2002)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0067: 5545..5546
Feature /change: -ct
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0067: 1191..1192
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14222; PERF_HUMAN: 364
Feature /change: L
Feature /change: -> ESVPDGQGSL EGLQPAVPTR AAEEPPRPMP VCVPWLSGHH
Feature /change: PGLLPSAEGP GPAGGDLHPS MGPVGGLVHC HGCLCEALLW
Feature /change: WPGAEDEHRV GQX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: unknown
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: unknown
Feature aa; 6
Feature /rnalink: 5
Feature /name: unknown
Sex XY
Ethnic origin Mongoloid; Japan
Parents Non-consanguineous
Relative PRF1base; P0030; brother
Status quo Deceased
//
ID #L364X456(3),Q416X(1); standard; MUTATION; ,C2
Accession P0034
Systematic name Allele 1: g.5545_5546delCT, c.1191_1192delCT, p.L364fsX456
Systematic name Allele 2: g.5701C>T, c.1347C>T, p.Q416X
Original code Patient 3
Description Allele 1: deletion in the exon 3 leading to a premature
Description stop codon
Description Allele 2: point mutation in the exon 3 leading to a
Description premature stop codon in the C2 domain
Date 26-Jun-2003 (Rel. 1, Created)
Date 26-Jun-2003 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12716377
RefAuthors Ueda, I., Morimoto, A., Inaba, T., Yagi, T., Hibi, S.,
RefAuthors Sugimoto, T., Sako, M., Yanai, F., Fukushima, T.,
RefAuthors Nakayama, M., Ishii, E., Imashuku, S.
RefTitle Characteristic perforin gene mutations of haemophagocytic
RefTitle lymphohistiocytosis patients in japan.
RefLoc Br J Haematol 121:503-510 (2003)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0067: 5545..5546
Feature /change: -ct
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0067: 1191..1192
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14222; PERF_HUMAN: 364
Feature /change: L
Feature /change: -> ESVPDGQGSL EGLQPAVPTR AAEEPPRPMP VCVPWLSGHH
Feature /change: PGLLPSAEGP GPAGGDLHPS MGPVGGLVHC HGCLCEALLW
Feature /change: WPGAEDEHRV GQX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0067: 5701
Feature /change: c -> t
Feature /genomic_region: exon; 3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0067: 1347
Feature /codon: cag -> tag; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14222; PERF_HUMAN: 416
Feature /change: Q -> X
Feature /domain: C2
Protein exp. complete lacking of intracellular perforin
Protein exp. expression (<1,0) in CD3+ and CD8+ cells
Sex XX
Age 2 months
Ethnic origin Mongoloid; Japan
Parents Non-consanguineous
//
ID #L364X456(5),#L364X456(5); standard; MUTATION;
Accession P0036
Systematic name Allele 1 and 2: g.5545_5546delCT, c.1191_1192delCT,
Systematic name p.L364fsX456
Original code Patient 5
Description Allele 1 and 2: deletion in the exon 3 leading to a
Description premature stop codon
Date 26-Jun-2003 (Rel. 1, Created)
Date 26-Jun-2003 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12716377
RefAuthors Ueda, I., Morimoto, A., Inaba, T., Yagi, T., Hibi, S.,
RefAuthors Sugimoto, T., Sako, M., Yanai, F., Fukushima, T.,
RefAuthors Nakayama, M., Ishii, E., Imashuku, S.
RefTitle Characteristic perforin gene mutations of haemophagocytic
RefTitle lymphohistiocytosis patients in japan.
RefLoc Br J Haematol 121:503-510 (2003)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0067: 5545..5546
Feature /change: -ct
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0067: 1191..1192
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14222; PERF_HUMAN: 364
Feature /change: L
Feature /change: -> ESVPDGQGSL EGLQPAVPTR AAEEPPRPMP VCVPWLSGHH
Feature /change: PGLLPSAEGP GPAGGDLHPS MGPVGGLVHC HGCLCEALLW
Feature /change: WPGAEDEHRV GQX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0067: 5545..5546
Feature /change: -ct
Feature /genomic_region: exon; 3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0067: 1191..1192
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14222; PERF_HUMAN: 364
Feature /change: L
Feature /change: -> ESVPDGQGSL EGLQPAVPTR AAEEPPRPMP VCVPWLSGHH
Feature /change: PGLLPSAEGP GPAGGDLHPS MGPVGGLVHC HGCLCEALLW
Feature /change: WPGAEDEHRV GQX
Protein exp. not determined
Sex XX
Age 3 months
Ethnic origin Mongoloid; Japan
Parents Non-consanguineous
//
ID #L364X456(6),#L364X456(6); standard; MUTATION;
Accession P0076
Systematic name Allele 1 and 2: g.5545_5546delCT, c.1090_1091delCT,
Systematic name r.1090_1091delcu, p.Leu364fsX93
Original code UPN17
Description Allele 1 and 2: a frame shift deletion mutation in the exon
Description 3 leading to a premature stop codon
Date 29-Apr-2005 (Rel. 1, Created)
Date 29-Apr-2005 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15632205
RefAuthors Ishii, E., Ueda, I., Shirakawa, R., Yamamoto, K.,
RefAuthors Horiuchi, H., Ohga, S., Furuno, K., Morimoto, A.,
RefAuthors Imayoshi, M., Ogata, Y., Zaitsu, M., Sako, M., Koike, K.,
RefAuthors Sakata, A., Takada, H., Hara, T., Imashuku, S., Sasazuki,
RefAuthors T., Yasukawa, M.
RefTitle Genetic subtypes of familial hemophagocytic
RefTitle lymphohistiocytosis: correlations with clinical features
RefTitle and cytotoxic T lymphocyte/natural killer cell functions.
RefLoc Blood 105:3442-3448 (2005)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0067: 5545..5546
Feature /change: -ct
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0067: 1191..1192
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14222; PERF_HUMAN: 364
Feature /change: L ->
Feature /change: ESVPDGQGSL EGLQPAVPTR AAEEPPRPMP VCVPWLSGHH
Feature /change: PGLLPSAEGP GPAGGDLHPS MGPVGGLVHC HGCLCEALLW
Feature /change: WPGAEDEHRV GQX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0067: 5545..5546
Feature /change: -ct
Feature /genomic_region: exon; 3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0067: 1191..1192
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14222; PERF_HUMAN: 364
Feature /change: L ->
Feature /change: ESVPDGQGSL EGLQPAVPTR AAEEPPRPMP VCVPWLSGHH
Feature /change: PGLLPSAEGP GPAGGDLHPS MGPVGGLVHC HGCLCEALLW
Feature /change: WPGAEDEHRV GQX
Diagnosis FHL2
Protein exp. Absent
Sex XX
Age 2 mo
Ethnic origin Mongoloid; Japan
Status quo Deceased
//
ID #L364X456(9),#L364X456(9); standard; MUTATION;
Accession P0142
Systematic name Allele 1 and 2: g.5545_5546delCT, c.1090_1091delCT,
Systematic name r.1090_1091delcu, p.Leu364fsX93
Original code P19
Description Allele 1 and 2: A frame shift deletion mutation in the exon
Description 3 leading to a premature stop codon
Date 08-Jul-2010 (Rel. 1, Created)
Date 08-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20015888
RefAuthors Yoon, H. S., Kim, H. J., Yoo, K. H., Sung, K. W., Koo, H.
RefAuthors H., Kang, H. J., Shin, H. Y., Ahn, H. S., Kim, J. Y., Lim,
RefAuthors Y. T., Bae, K. W., Lee, K. O., Shin, J. S., Lee, S. T.,
RefAuthors Chung, H. S., Kim, S. H., Park, C. J., Chi, H. S., Im, H.
RefAuthors J., Seo, J. J.
RefTitle UNC13D is the predominant causative gene with recurrent
RefTitle splicing mutations in korean patients with familial
RefTitle hemophagocytic lymphohistiocytosis.
RefLoc Haematologica:622-626 (2010)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0067: 5545..5546
Feature /change: -ct
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0067; GI:129819; PRF1C: 1191..1192
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14222; PERF_HUMAN: 364
Feature /change: L ->
Feature /change: ESVPDGQGSL EGLQPAVPTR AAEEPPRPMP VCVPWLSGHH
Feature /change: PGLLPSAEGP GPAGGDLHPS MGPVGGLVHC HGCLCEALLW
Feature /change: WPGAEDEHRV GQX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0067: 5545..5546
Feature /change: -ct
Feature /genomic_region: exon; 3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0067; GI:129819; PRF1C: 1191..1192
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14222; PERF_HUMAN: 364
Feature /change: L ->
Feature /change: ESVPDGQGSL EGLQPAVPTR AAEEPPRPMP VCVPWLSGHH
Feature /change: PGLLPSAEGP GPAGGDLHPS MGPVGGLVHC HGCLCEALLW
Feature /change: WPGAEDEHRV GQX
Diagnosis Familial haemophagocytic lymphohistiocytosis (FHL2)
Status quo Deceased
Age 2 mo
Sex XX
Ethnic origin Korea
Symptoms Hematological abnormalities
Symptoms Hemophagocytosis
Symptoms Splenomegaly
Symptoms Fever
//
ID W374X(1),W374X(1); standard; MUTATION; EGF,EGF
Accession P0002
Systematic name Allele 1 and 2: g.5577G>A, c.1223G>A, p.W374X
Original code P21
Description Allele 1 and 2: point mutation in the exon 3 leading to a
Description premature stop codon in the EGF domain
Date 19-Jun-2003 (Rel. 1, Created)
Date 19-Jun-2003 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 10583959
RefAuthors Stepp, S. E., Dufourcq-Lagelouse, R., Le Deist, F.,
RefAuthors Bhawan, S., Certain, S., Mathew, P. A., Henter, J. I.,
RefAuthors Bennett, M., Fischer, A., de Saint Basile, G., Kumar, V.
RefTitle Perforin gene defects in familial hemophagocytic
RefTitle lymphohistiocytosis.
RefLoc Science 286:1957-1959 (1999)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0067: 5577
Feature /change: g -> a
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0067: 1223
Feature /codon: tgg -> tga; 3
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14222; PERF_HUMAN: 374
Feature /change: W -> X
Feature /domain: EGF
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0067: 5577
Feature /change: g -> a
Feature /genomic_region: exon; 3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0067: 1223
Feature /codon: tgg -> tga; 3
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14222; PERF_HUMAN: 374
Feature /change: W -> X
Feature /domain: EGF
Parents Consanguineous
//
ID W374X(2),W374X(2); standard; MUTATION; EGF,EGF
Accession P0004
Systematic name Allele 1 and 2: g.5577G>A, c.1223G>A, p.W374X
Original code P34
Description Allele 1 and 2: point mutation in the exon 3 leading to a
Description premature stop codon in the EGF domain
Date 19-Jun-2003 (Rel. 1, Created)
Date 19-Jun-2003 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 10583959
RefAuthors Stepp, S. E., Dufourcq-Lagelouse, R., Le Deist, F.,
RefAuthors Bhawan, S., Certain, S., Mathew, P. A., Henter, J. I.,
RefAuthors Bennett, M., Fischer, A., de Saint Basile, G., Kumar, V.
RefTitle Perforin gene defects in familial hemophagocytic
RefTitle lymphohistiocytosis.
RefLoc Science 286:1957-1959 (1999)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0067: 5577
Feature /change: g -> a
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0067: 1223
Feature /codon: tgg -> tga; 3
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14222; PERF_HUMAN: 374
Feature /change: W -> X
Feature /domain: EGF
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0067: 5577
Feature /change: g -> a
Feature /genomic_region: exon; 3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0067: 1223
Feature /codon: tgg -> tga; 3
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14222; PERF_HUMAN: 374
Feature /change: W -> X
Feature /domain: EGF
Parents Consanguineous
//
ID W374X(3),W374X(3); standard; MUTATION; EGF,EGF
Accession P0009
Systematic name Allele 1 and 2: g.5577G>A, c.1223G>A, p.W374X
Original code Family 1
Description Allele 1 and 2: point mutation in the exon 3 leading to a
Description premature stop codon in the EGF domain
Date 23-Jun-2003 (Rel. 1, Created)
Date 23-Jun-2003 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11179007
RefAuthors Goransdotter Ericson, K., Fadeel, B., Nilsson-Ardnor, S.,
RefAuthors Soderhall, C., Samuelsson, A., Janka, G., Schneider, M.,
RefAuthors Gurgey, A., Yalman, N., Revesz, T., Egeler, R.,
RefAuthors Jahnukainen, K., Storm-Mathiesen, I., Haraldsson , A.,
RefAuthors Poole, J., de Saint Basile, G., Nordenskjold, M., Henter,
RefAuthors J.
RefTitle Spectrum of perforin gene mutations in familial
RefTitle hemophagocytic lymphohistiocytosis.
RefLoc Am J Hum Genet 68:590-597 (2001)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0067: 5577
Feature /change: g -> a
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0067: 1223
Feature /codon: tgg -> tga; 3
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14222; PERF_HUMAN: 374
Feature /change: W -> X
Feature /domain: EGF
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0067: 5577
Feature /change: g -> a
Feature /genomic_region: exon; 3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0067: 1223
Feature /codon: tgg -> tga; 3
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14222; PERF_HUMAN: 374
Feature /change: W -> X
Feature /domain: EGF
Sex XY
Age 2 months
Ethnic origin Caucasoid; Turkey
Parents Consanguineous
Status quo Deceased
Symptoms Hematological abnormalities
Symptoms Cytopenia
Symptoms Hemophagocytosis
Symptoms Splenomegaly
Symptoms Fever
Treatment Etoposide VP-16, corticosteroids, Cyclosporin A
Treatment No bone marrow transplantation
Comment -!-at least two affected children in the family, but only
Comment -!-one sibling investigated
//
ID W374X(4),W374X(4); standard; MUTATION; EGF,EGF
Accession P0010
Systematic name Allele 1 and 2: g.5577G>A, c.1223G>A, p.W374X
Original code Family 7
Description Allele 1 and 2: point mutation in the exon 3 leading to a
Description premature stop codon in the EGF domain
Date 23-Jun-2003 (Rel. 1, Created)
Date 23-Jun-2003 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11179007
RefAuthors Goransdotter Ericson, K., Fadeel, B., Nilsson-Ardnor, S.,
RefAuthors Soderhall, C., Samuelsson, A., Janka, G., Schneider, M.,
RefAuthors Gurgey, A., Yalman, N., Revesz, T., Egeler, R.,
RefAuthors Jahnukainen, K., Storm-Mathiesen, I., Haraldsson , A.,
RefAuthors Poole, J., de Saint Basile, G., Nordenskjold, M., Henter,
RefAuthors J.
RefTitle Spectrum of perforin gene mutations in familial
RefTitle hemophagocytic lymphohistiocytosis.
RefLoc Am J Hum Genet 68:590-597 (2001)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0067: 5577
Feature /change: g -> a
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0067: 1223
Feature /codon: tgg -> tga; 3
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14222; PERF_HUMAN: 374
Feature /change: W -> X
Feature /domain: EGF
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0067: 5577
Feature /change: g -> a
Feature /genomic_region: exon; 3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0067: 1223
Feature /codon: tgg -> tga; 3
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14222; PERF_HUMAN: 374
Feature /change: W -> X
Feature /domain: EGF
Sex XX
Age 1 months
Ethnic origin Caucasoid; Turkey
Parents Non-consanguineous
Status quo Deceased
Symptoms Hematological abnormalities
Symptoms Cytopenia
Symptoms Hemophagocytosis
Symptoms Splenomegaly
Symptoms Fever
Treatment VP-16, corticosteroids
Treatment No bone marrow transplantation
Comment -!-at least two affected children in the family, but only
Comment -!-one sibling investigated
//
ID W374X(5),W374X(5); standard; MUTATION; EGF,EGF
Accession P0011
Systematic name Allele 1 and 2: g.5577G>A, c.1223G>A, p.W374X
Original code Family 11
Description Allele 1 and 2: point mutation in the exon 3 leading to a
Description premature stop codon in the EGF domain
Date 23-Jun-2003 (Rel. 1, Created)
Date 23-Jun-2003 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11179007
RefAuthors Goransdotter Ericson, K., Fadeel, B., Nilsson-Ardnor, S.,
RefAuthors Soderhall, C., Samuelsson, A., Janka, G., Schneider, M.,
RefAuthors Gurgey, A., Yalman, N., Revesz, T., Egeler, R.,
RefAuthors Jahnukainen, K., Storm-Mathiesen, I., Haraldsson , A.,
RefAuthors Poole, J., de Saint Basile, G., Nordenskjold, M., Henter,
RefAuthors J.
RefTitle Spectrum of perforin gene mutations in familial
RefTitle hemophagocytic lymphohistiocytosis.
RefLoc Am J Hum Genet 68:590-597 (2001)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0067: 5577
Feature /change: g -> a
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0067: 1223
Feature /codon: tgg -> tga; 3
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14222; PERF_HUMAN: 374
Feature /change: W -> X
Feature /domain: EGF
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0067: 5577
Feature /change: g -> a
Feature /genomic_region: exon; 3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0067: 1223
Feature /codon: tgg -> tga; 3
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14222; PERF_HUMAN: 374
Feature /change: W -> X
Feature /domain: EGF
Sex XY
Age 39 months
Ethnic origin Caucasoid; Turkey
Parents Consanguineous
Status quo Alive
Symptoms Hematological abnormalities
Symptoms Cytopenia
Symptoms Hemophagocytosis
Symptoms Splenomegaly
Symptoms Fever
Treatment HLH-94
Treatment Bone marrow transplantation: Yes
Treatment Outcome: alive and well
Comment -!-at least two affected children in the family, but only
Comment -!-one sibling investigated
//
ID W374X(6),W374X(6); standard; MUTATION; EGF,EGF
Accession P0012
Systematic name Allele 1 and 2: g.5577G>A, c.1223G>A, p.W374X
Original code Family 17
Description Allele 1 and 2: point mutation in the exon 3 leading to a
Description premature stop codon in the EGF domain
Date 23-Jun-2003 (Rel. 1, Created)
Date 23-Jun-2003 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11179007
RefAuthors Goransdotter Ericson, K., Fadeel, B., Nilsson-Ardnor, S.,
RefAuthors Soderhall, C., Samuelsson, A., Janka, G., Schneider, M.,
RefAuthors Gurgey, A., Yalman, N., Revesz, T., Egeler, R.,
RefAuthors Jahnukainen, K., Storm-Mathiesen, I., Haraldsson , A.,
RefAuthors Poole, J., de Saint Basile, G., Nordenskjold, M., Henter,
RefAuthors J.
RefTitle Spectrum of perforin gene mutations in familial
RefTitle hemophagocytic lymphohistiocytosis.
RefLoc Am J Hum Genet 68:590-597 (2001)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0067: 5577
Feature /change: g -> a
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0067: 1223
Feature /codon: tgg -> tga; 3
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14222; PERF_HUMAN: 374
Feature /change: W -> X
Feature /domain: EGF
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0067: 5577
Feature /change: g -> a
Feature /genomic_region: exon; 3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0067: 1223
Feature /codon: tgg -> tga; 3
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14222; PERF_HUMAN: 374
Feature /change: W -> X
Feature /domain: EGF
Sex XX
Age 10 months
Ethnic origin Caucasoid; Turkey
Parents Consanguineous
Status quo Deceased
Symptoms Hematological abnormalities
Symptoms Cytopenia
Symptoms Hemophagocytosis
Symptoms Splenomegaly
Symptoms Fever
Treatment No treatment
Treatment No bone marrow transplantation
Comment -!-at least two affected children in the family, but only
Comment -!-one sibling investigated
//
ID W374X(7),W374X(7); standard; MUTATION; EGF,EGF
Accession P0022
Systematic name Allele 1 and 2: g.5577G>A, c.1223G>A, p.W374X
Original code Case 7
Description Allele 1 and 2: point mutation in the exon 3 leading to a
Description premature stop codon in the EGF domain
Date 24-Jun-2003 (Rel. 1, Created)
Date 24-Jun-2003 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11565555
RefAuthors Clementi, R., zur Stadt, U., Savoldi, G., Varoitto, S.,
RefAuthors Conter, V., De Fusco, C., Notarangelo, L. D., Schneider,
RefAuthors M., Klersy, C., Janka, G., Danesino, C., Aricò, M.
RefTitle Six novel mutations in the PRF1 gene in children with
RefTitle haemophagocytic lymphohistiocytosis.
RefLoc J Med Genet 38:643-646 (2001)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0067: 5577
Feature /change: g -> a
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0067: 1223
Feature /codon: tgg -> tga; 3
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14222; PERF_HUMAN: 374
Feature /change: W -> X
Feature /domain: EGF
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0067: 5577
Feature /change: g -> a
Feature /genomic_region: exon; 3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0067: 1223
Feature /codon: tgg -> tga; 3
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14222; PERF_HUMAN: 374
Feature /change: W -> X
Feature /domain: EGF
Sex XY
Age 3 month
Ethnic origin Caucasoid; Turkey
Parents Consanguineous
Symptoms Hematological abnormalities
Symptoms Neutropenia
Symptoms Hypertriglyceridaemia
Symptoms Hypofibrinogenaemia
Symptoms Hepatosplenomegaly
Symptoms Fever
Symptoms CSF pleiocytosis
Symptoms Infections:
Symptoms Viral: CMV
Symptoms Other clinical features: absent NK activity
Haemoglobin 8.2 g/dl
Platelets 42 x1000/mm3
Treatment Bone marrow transplantation: Yes
Treatment Outcome: alive and well
Comment -!-asymptomatic 60 mth after BMT
//
ID W374X(8),W374X(8); standard; MUTATION; EGF,EGF
Accession P0023
Systematic name Allele 1 and 2: g.5577G>A, c.1223G>A, p.W374X
Original code Case 8
Description Allele 1 and 2: point mutation in the exon 3 leading to a
Description premature stop codon in the EGF domain
Date 24-Jun-2003 (Rel. 1, Created)
Date 24-Jun-2003 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11565555
RefAuthors Clementi, R., zur Stadt, U., Savoldi, G., Varoitto, S.,
RefAuthors Conter, V., De Fusco, C., Notarangelo, L. D., Schneider,
RefAuthors M., Klersy, C., Janka, G., Danesino, C., Aricò, M.
RefTitle Six novel mutations in the PRF1 gene in children with
RefTitle haemophagocytic lymphohistiocytosis.
RefLoc J Med Genet 38:643-646 (2001)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0067: 5577
Feature /change: g -> a
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0067: 1223
Feature /codon: tgg -> tga; 3
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14222; PERF_HUMAN: 374
Feature /change: W -> X
Feature /domain: EGF
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0067: 5577
Feature /change: g -> a
Feature /genomic_region: exon; 3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0067: 1223
Feature /codon: tgg -> tga; 3
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14222; PERF_HUMAN: 374
Feature /change: W -> X
Feature /domain: EGF
Sex XX
Age 2.5 months
Ethnic origin Caucasoid; Turkey
Parents Consanguineous
Symptoms Hematological abnormalities
Symptoms Neutropenia
Symptoms Hypertriglyceridaemia
Symptoms Hypofibrinogenaemia
Symptoms Hepatosplenomegaly
Symptoms Skin rash
Symptoms Fever
Symptoms Oedema
Symptoms CSF pleiocytosis
Symptoms CNS alterations
Symptoms Other clinical features: upper respiratory infection,
Symptoms absent NK activity
Haemoglobin 4.4 g/dl
Platelets 12 x1000/mm3
Treatment Bone marrow transplantation: Yes
Treatment Outcome
Treatment BMT-related problems: alive without disease but
Treatment severe neurological impairment 56 mth after BMT
//
ID W374X(9a),W374X(9a); standard; MUTATION; EGF,EGF
Accession P0024
Systematic name Allele 1 and 2: g.5577G>A, c.1223G>A, p.W374X
Original code Case 9
Description Allele 1 and 2: point mutation in the exon 3 leading to a
Description premature stop codon in the EGF domain
Date 24-Jun-2003 (Rel. 1, Created)
Date 24-Jun-2003 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11565555
RefAuthors Clementi, R., zur Stadt, U., Savoldi, G., Varoitto, S.,
RefAuthors Conter, V., De Fusco, C., Notarangelo, L. D., Schneider,
RefAuthors M., Klersy, C., Janka, G., Danesino, C., Aricò, M.
RefTitle Six novel mutations in the PRF1 gene in children with
RefTitle haemophagocytic lymphohistiocytosis.
RefLoc J Med Genet 38:643-646 (2001)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0067: 5577
Feature /change: g -> a
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0067: 1223
Feature /codon: tgg -> tga; 3
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14222; PERF_HUMAN: 374
Feature /change: W -> X
Feature /domain: EGF
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0067: 5577
Feature /change: g -> a
Feature /genomic_region: exon; 3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0067: 1223
Feature /codon: tgg -> tga; 3
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14222; PERF_HUMAN: 374
Feature /change: W -> X
Feature /domain: EGF
Sex XY
Age 2 months
Ethnic origin Caucasoid; Turkey
Parents Consanguineous
Relative PRF1base; P0025 brother
Relative PRF1base; P0026 brother
Status quo Deceased
Symptoms Hematological abnormalities
Symptoms Hypertriglyceridaemia
Symptoms Hepatosplenomegaly
Symptoms Fever
Symptoms Jaundice
Symptoms Infections:
Symptoms Viral: CMV
Haemoglobin 9.6 g/dl
Platelets 14 x1000/mm3
Comment -!-The same mutation was also observed in his two brothers
Comment -!-with an identical clinical picture
//
ID W374X(10),W374X(10); standard; MUTATION; EGF,EGF
Accession P0025
Systematic name Allele 1 and 2: g.5577G>A, c.1223G>A, p.W374X
Original code Case 10
Description Allele 1 and 2: point mutation in the exon 3 leading to a
Description premature stop codon in the EGF domain
Date 24-Jun-2003 (Rel. 1, Created)
Date 24-Jun-2003 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11565555
RefAuthors Clementi, R., zur Stadt, U., Savoldi, G., Varoitto, S.,
RefAuthors Conter, V., De Fusco, C., Notarangelo, L. D., Schneider,
RefAuthors M., Klersy, C., Janka, G., Danesino, C., Aricò, M.
RefTitle Six novel mutations in the PRF1 gene in children with
RefTitle haemophagocytic lymphohistiocytosis.
RefLoc J Med Genet 38:643-646 (2001)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0067: 5577
Feature /change: g -> a
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0067: 1223
Feature /codon: tgg -> tga; 3
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14222; PERF_HUMAN: 374
Feature /change: W -> X
Feature /domain: EGF
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0067: 5577
Feature /change: g -> a
Feature /genomic_region: exon; 3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0067: 1223
Feature /codon: tgg -> tga; 3
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14222; PERF_HUMAN: 374
Feature /change: W -> X
Feature /domain: EGF
Sex XY
Age 2 month
Ethnic origin Caucasoid; Turkey
Parents Consanguineous
Symptoms Hematological abnormalities
Symptoms Neutropenia
Symptoms Hypertriglyceridaemia
Symptoms Hypofibrinogenaemia
Symptoms Hepatosplenomegaly
Symptoms Fever
Symptoms Other clinical features: NK activity decreased
Haemoglobin 5.3 g/dl
Platelets 52 x1000/mm3
Treatment Bone marrow transplantation: Yes
Treatment Outcome: alive and well
Comment -!-asymptomatic 13+ mth after BMT
//
ID W374X(13),W374X(13); standard; MUTATION; EGF,EGF
Accession P0068
Systematic name Allele 1 and 2: g.5577G>A, c.1122G>A, r.1122g>a, p.Trp374X
Original code Patient 34
Description Allele 1 and 2: a point mutation in the exon 3 leading to a
Description premature stop codon in the EGF domain
Date 07-Mar-2005 (Rel. 1, Created)
Date 07-Mar-2005 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12060139
RefAuthors Feldmann, J., Le Deist, F., Ouachee-Chardin, M., Certain,
RefAuthors S., Alexander, S., Quartier, P., Haddad, E., Wulffraat,
RefAuthors N., Casanova, J. L., Blanche, S., Fischer, A., de Saint
RefAuthors Basile, G.
RefTitle Functional consequences of perforin gene mutations in 22
RefTitle patients with familial haemophagocytic
RefTitle lymphohistiocytosis.
RefLoc Br J Haematol 117:965-972 (2002)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0067: 5577
Feature /change: g -> a
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0067: 1223
Feature /codon: tgg -> tga; 3
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14222; PERF_HUMAN: 374
Feature /change: W -> X
Feature /domain: EGF
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0067: 5577
Feature /change: g -> a
Feature /genomic_region: exon; 3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0067: 1223
Feature /codon: tgg -> tga; 3
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14222; PERF_HUMAN: 374
Feature /change: W -> X
Feature /domain: EGF
Diagnosis FHL2
Protein exp. not done
Ethnic origin Caucasoid; Turkey
Parents Consanguineous
//
ID W374X(15),W374X(15); standard; MUTATION; EGF,EGF
Accession P0120
Systematic name Allele 1 and 2: g.5577G>A, c.1122G>A, r.1122g>a, p.Trp374X
Original code UPN 9
Description Allele 1 and 2: A point mutation in the exon 3 leading to a
Description premature stop codon in the EGF domain
Date 22-May-2008 (Rel. 1, Created)
Date 22-May-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17873118
RefAuthors Trizzino, A., zur Stadt, U., Ueda, I., Risma, K., Janka,
RefAuthors G., Ishii, E., Beutel, K., Sumegi, J., Cannella, S.,
RefAuthors Pende, D., Mian, A., Henter, J. I., Griffiths, G.,
RefAuthors Santoro, A., Filipovich, A., Aricx, M.
RefTitle Genotype-phenotype study of familial haemophagocytic
RefTitle lymphohistiocytosis due to perforin mutations.
RefLoc J Med Genet:15-21 (2008)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0067: 5577
Feature /change: g -> a
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0067; GI:129819; PRF1C: 1223
Feature /codon: tgg -> tga; 3
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14222; PERF_HUMAN: 374
Feature /change: W -> X
Feature /domain: EGF
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0067: 5577
Feature /change: g -> a
Feature /genomic_region: exon; 3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0067; GI:129819; PRF1C: 1223
Feature /codon: tgg -> tga; 3
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14222; PERF_HUMAN: 374
Feature /change: W -> X
Feature /domain: EGF
Diagnosis Familial haemophagocytic lymphohistiocytosis (FHL2)
Age 0,2
Ethnic origin Caucasoid; Turkish
Symptoms Hematological abnormalities
Symptoms Thrombocytopenia
Symptoms Neutropenia
Symptoms Anemia
Symptoms Hypertriglyceridaemia
Symptoms Splenomegaly
Symptoms Fever
Symptoms CNS alterations
//
ID W374X(16),W374X(16); standard; MUTATION; EGF,EGF
Accession P0121
Systematic name Allele 1 and 2: g.5577G>A, c.1122G>A, r.1122g>a, p.Trp374X
Original code UPN 10
Description Allele 1 and 2: A point mutation in the exon 3 leading to a
Description premature stop codon in the EGF domain
Date 22-May-2008 (Rel. 1, Created)
Date 22-May-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17873118
RefAuthors Trizzino, A., zur Stadt, U., Ueda, I., Risma, K., Janka,
RefAuthors G., Ishii, E., Beutel, K., Sumegi, J., Cannella, S.,
RefAuthors Pende, D., Mian, A., Henter, J. I., Griffiths, G.,
RefAuthors Santoro, A., Filipovich, A., Aricx, M.
RefTitle Genotype-phenotype study of familial haemophagocytic
RefTitle lymphohistiocytosis due to perforin mutations.
RefLoc J Med Genet:15-21 (2008)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0067: 5577
Feature /change: g -> a
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0067; GI:129819; PRF1C: 1223
Feature /codon: tgg -> tga; 3
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14222; PERF_HUMAN: 374
Feature /change: W -> X
Feature /domain: EGF
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0067: 5577
Feature /change: g -> a
Feature /genomic_region: exon; 3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0067; GI:129819; PRF1C: 1223
Feature /codon: tgg -> tga; 3
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14222; PERF_HUMAN: 374
Feature /change: W -> X
Feature /domain: EGF
Diagnosis Familial haemophagocytic lymphohistiocytosis (FHL2)
Age 0,2
Ethnic origin Caucasoid; Turkish
Symptoms Hematological abnormalities
Symptoms Thrombocytopenia
Symptoms Neutropenia
Symptoms Anemia
Symptoms Hypertriglyceridaemia
Symptoms Hypofibrinogenaemia
Symptoms Splenomegaly
Symptoms Fever
Symptoms CNS alterations
//
ID W374X(17),W374X(17); standard; MUTATION; EGF,EGF
Accession P0122
Systematic name Allele 1 and 2: g.5577G>A, c.1122G>A, r.1122g>a, p.Trp374X
Original code UPN 139
Description Allele 1 and 2: A point mutation in the exon 3 leading to a
Description premature stop codon in the EGF domain
Date 22-May-2008 (Rel. 1, Created)
Date 22-May-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17873118
RefAuthors Trizzino, A., zur Stadt, U., Ueda, I., Risma, K., Janka,
RefAuthors G., Ishii, E., Beutel, K., Sumegi, J., Cannella, S.,
RefAuthors Pende, D., Mian, A., Henter, J. I., Griffiths, G.,
RefAuthors Santoro, A., Filipovich, A., Aricx, M.
RefTitle Genotype-phenotype study of familial haemophagocytic
RefTitle lymphohistiocytosis due to perforin mutations.
RefLoc J Med Genet:15-21 (2008)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0067: 5577
Feature /change: g -> a
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0067; GI:129819; PRF1C: 1223
Feature /codon: tgg -> tga; 3
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14222; PERF_HUMAN: 374
Feature /change: W -> X
Feature /domain: EGF
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0067: 5577
Feature /change: g -> a
Feature /genomic_region: exon; 3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0067; GI:129819; PRF1C: 1223
Feature /codon: tgg -> tga; 3
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14222; PERF_HUMAN: 374
Feature /change: W -> X
Feature /domain: EGF
Diagnosis Familial haemophagocytic lymphohistiocytosis (FHL2)
Age 0,5
Ethnic origin Caucasoid; Turkish
Symptoms Hematological abnormalities
Symptoms Thrombocytopenia
Symptoms Neutropenia
Symptoms Anemia
Symptoms Hypertriglyceridaemia
Symptoms Hypofibrinogenaemia
Symptoms Splenomegaly
Symptoms Fever
Symptoms CNS alterations
//
ID W374X(18),W374X(18); standard; MUTATION; EGF,EGF
Accession P0123
Systematic name Allele 1 and 2: g.5577G>A, c.1122G>A, r.1122g>a, p.Trp374X
Original code UPN 105
Description Allele 1 and 2: A point mutation in the exon 3 leading to a
Description premature stop codon in the EGF domain
Date 22-May-2008 (Rel. 1, Created)
Date 22-May-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17873118
RefAuthors Trizzino, A., zur Stadt, U., Ueda, I., Risma, K., Janka,
RefAuthors G., Ishii, E., Beutel, K., Sumegi, J., Cannella, S.,
RefAuthors Pende, D., Mian, A., Henter, J. I., Griffiths, G.,
RefAuthors Santoro, A., Filipovich, A., Aricx, M.
RefTitle Genotype-phenotype study of familial haemophagocytic
RefTitle lymphohistiocytosis due to perforin mutations.
RefLoc J Med Genet:15-21 (2008)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0067: 5577
Feature /change: g -> a
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0067; GI:129819; PRF1C: 1223
Feature /codon: tgg -> tga; 3
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14222; PERF_HUMAN: 374
Feature /change: W -> X
Feature /domain: EGF
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0067: 5577
Feature /change: g -> a
Feature /genomic_region: exon; 3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0067; GI:129819; PRF1C: 1223
Feature /codon: tgg -> tga; 3
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14222; PERF_HUMAN: 374
Feature /change: W -> X
Feature /domain: EGF
Diagnosis Familial haemophagocytic lymphohistiocytosis (FHL2)
Age 0,2
Ethnic origin Caucasoid
Symptoms Hematological abnormalities
Symptoms Thrombocytopenia
Symptoms Neutropenia
Symptoms Anemia
Symptoms Hypertriglyceridaemia
Symptoms Hypofibrinogenaemia
Symptoms Splenomegaly
Symptoms Fever
Symptoms CNS alterations
//
ID W374X(19),W374X(19); standard; MUTATION; EGF,EGF
Accession P0124
Systematic name Allele 1 and 2: g.5577G>A, c.1122G>A, r.1122g>a, p.Trp374X
Original code UPN 106
Description Allele 1 and 2: A point mutation in the exon 3 leading to a
Description premature stop codon in the EGF domain
Date 22-May-2008 (Rel. 1, Created)
Date 22-May-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17873118
RefAuthors Trizzino, A., zur Stadt, U., Ueda, I., Risma, K., Janka,
RefAuthors G., Ishii, E., Beutel, K., Sumegi, J., Cannella, S.,
RefAuthors Pende, D., Mian, A., Henter, J. I., Griffiths, G.,
RefAuthors Santoro, A., Filipovich, A., Aricx, M.
RefTitle Genotype-phenotype study of familial haemophagocytic
RefTitle lymphohistiocytosis due to perforin mutations.
RefLoc J Med Genet:15-21 (2008)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0067: 5577
Feature /change: g -> a
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0067; GI:129819; PRF1C: 1223
Feature /codon: tgg -> tga; 3
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14222; PERF_HUMAN: 374
Feature /change: W -> X
Feature /domain: EGF
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0067: 5577
Feature /change: g -> a
Feature /genomic_region: exon; 3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0067; GI:129819; PRF1C: 1223
Feature /codon: tgg -> tga; 3
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14222; PERF_HUMAN: 374
Feature /change: W -> X
Feature /domain: EGF
Diagnosis Familial haemophagocytic lymphohistiocytosis (FHL2)
Age 0,1
Ethnic origin Caucasoid
Symptoms Hematological abnormalities
Symptoms Thrombocytopenia
Symptoms Neutropenia
Symptoms Anemia
Symptoms Splenomegaly
Symptoms Fever
//
ID W374X(20),W374X(20); standard; MUTATION; EGF,EGF
Accession P0125
Systematic name Allele 1 and 2: g.5577G>A, c.1122G>A, r.1122g>a, p.Trp374X
Original code UPN 112
Description Allele 1 and 2: A point mutation in the exon 3 leading to a
Description premature stop codon in the EGF domain
Date 22-May-2008 (Rel. 1, Created)
Date 22-May-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17873118
RefAuthors Trizzino, A., zur Stadt, U., Ueda, I., Risma, K., Janka,
RefAuthors G., Ishii, E., Beutel, K., Sumegi, J., Cannella, S.,
RefAuthors Pende, D., Mian, A., Henter, J. I., Griffiths, G.,
RefAuthors Santoro, A., Filipovich, A., Aricx, M.
RefTitle Genotype-phenotype study of familial haemophagocytic
RefTitle lymphohistiocytosis due to perforin mutations.
RefLoc J Med Genet:15-21 (2008)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0067: 5577
Feature /change: g -> a
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0067; GI:129819; PRF1C: 1223
Feature /codon: tgg -> tga; 3
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14222; PERF_HUMAN: 374
Feature /change: W -> X
Feature /domain: EGF
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0067: 5577
Feature /change: g -> a
Feature /genomic_region: exon; 3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0067; GI:129819; PRF1C: 1223
Feature /codon: tgg -> tga; 3
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14222; PERF_HUMAN: 374
Feature /change: W -> X
Feature /domain: EGF
Diagnosis Familial haemophagocytic lymphohistiocytosis (FHL2)
Age 0,1
Ethnic origin Caucasoid
Symptoms Hematological abnormalities
Symptoms Thrombocytopenia
Symptoms Neutropenia
Symptoms Anemia
Symptoms Splenomegaly
Symptoms Fever
//
ID W374X(21),W374X(21); standard; MUTATION; EGF,EGF
Accession P0126
Systematic name Allele 1 and 2: g.5577G>A, c.1122G>A, r.1122g>a, p.Trp374X
Original code UPN 113
Description Allele 1 and 2: A point mutation in the exon 3 leading to a
Description premature stop codon in the EGF domain
Date 22-May-2008 (Rel. 1, Created)
Date 22-May-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17873118
RefAuthors Trizzino, A., zur Stadt, U., Ueda, I., Risma, K., Janka,
RefAuthors G., Ishii, E., Beutel, K., Sumegi, J., Cannella, S.,
RefAuthors Pende, D., Mian, A., Henter, J. I., Griffiths, G.,
RefAuthors Santoro, A., Filipovich, A., Aricx, M.
RefTitle Genotype-phenotype study of familial haemophagocytic
RefTitle lymphohistiocytosis due to perforin mutations.
RefLoc J Med Genet:15-21 (2008)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0067: 5577
Feature /change: g -> a
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0067; GI:129819; PRF1C: 1223
Feature /codon: tgg -> tga; 3
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14222; PERF_HUMAN: 374
Feature /change: W -> X
Feature /domain: EGF
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0067: 5577
Feature /change: g -> a
Feature /genomic_region: exon; 3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0067; GI:129819; PRF1C: 1223
Feature /codon: tgg -> tga; 3
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14222; PERF_HUMAN: 374
Feature /change: W -> X
Feature /domain: EGF
Diagnosis Familial haemophagocytic lymphohistiocytosis (FHL2)
Age 0,1
Ethnic origin Caucasoid
Symptoms Hematological abnormalities
Symptoms Thrombocytopenia
Symptoms Neutropenia
Symptoms Anemia
Symptoms Splenomegaly
Symptoms Fever
//
ID W374X(22),W374X(22); standard; MUTATION; EGF,EGF
Accession P0127
Systematic name Allele 1 and 2: g.5577G>A, c.1122G>A, r.1122g>a, p.Trp374X
Original code UPN 117
Description Allele 1 and 2: A point mutation in the exon 3 leading to a
Description premature stop codon in the EGF domain
Date 22-May-2008 (Rel. 1, Created)
Date 22-May-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17873118
RefAuthors Trizzino, A., zur Stadt, U., Ueda, I., Risma, K., Janka,
RefAuthors G., Ishii, E., Beutel, K., Sumegi, J., Cannella, S.,
RefAuthors Pende, D., Mian, A., Henter, J. I., Griffiths, G.,
RefAuthors Santoro, A., Filipovich, A., Aricx, M.
RefTitle Genotype-phenotype study of familial haemophagocytic
RefTitle lymphohistiocytosis due to perforin mutations.
RefLoc J Med Genet:15-21 (2008)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0067: 5577
Feature /change: g -> a
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0067; GI:129819; PRF1C: 1223
Feature /codon: tgg -> tga; 3
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14222; PERF_HUMAN: 374
Feature /change: W -> X
Feature /domain: EGF
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0067: 5577
Feature /change: g -> a
Feature /genomic_region: exon; 3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0067; GI:129819; PRF1C: 1223
Feature /codon: tgg -> tga; 3
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14222; PERF_HUMAN: 374
Feature /change: W -> X
Feature /domain: EGF
Diagnosis Familial haemophagocytic lymphohistiocytosis (FHL2)
Age 0,1
Ethnic origin Caucasoid
Symptoms Hematological abnormalities
Symptoms Thrombocytopenia
Symptoms Neutropenia
Symptoms Anemia
Symptoms Splenomegaly
Symptoms Fever
//
ID W374X(23),W374X(23); standard; MUTATION; EGF,EGF
Accession P0150
Systematic name Allele 1 and 2: g.5577G>A, c.1122G>A, r.1122g>a, p.Trp374X
Original code Case1
Description Allele 1 and 2: A point mutation in the exon 3 leading to a
Description premature stop codon in the EGF domain
Date 08-Jul-2010 (Rel. 1, Created)
Date 08-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 18190960
RefAuthors Okur, H., Balta, G., Akarsu, N., Oner, A., Patiroglu, T.,
RefAuthors Bay, A., Sayli, T., Unal, S., Gurgey, A.
RefTitle Clinical and molecular aspects of turkish familial
RefTitle hemophagocytic lymphohistiocytosis patients with perforin
RefTitle mutations.
RefLoc Leuk Res:972-975 (2008)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0067: 5577
Feature /change: g -> a
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0067; GI:129819; PRF1C: 1223
Feature /codon: tgg -> tga; 3
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14222; PERF_HUMAN: 374
Feature /change: W -> X
Feature /domain: EGF
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0067: 5577
Feature /change: g -> a
Feature /genomic_region: exon; 3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0067; GI:129819; PRF1C: 1223
Feature /codon: tgg -> tga; 3
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14222; PERF_HUMAN: 374
Feature /change: W -> X
Feature /domain: EGF
Diagnosis Familial haemophagocytic lymphohistiocytosis (FHL2)
Status quo Deceased
Age 0
Sex XY
Ethnic origin Turkey
Parents Consanguineous
Family history Inherited
Symptoms Hematological abnormalities
Symptoms Cytopenia
Symptoms Pancytopenia
Symptoms Hypertriglyceridaemia
Symptoms Splenomegaly
Symptoms Fever
//
ID W374X(24),W374X(24); standard; MUTATION; EGF,EGF
Accession P0151
Systematic name Allele 1 and 2: g.5577G>A, c.1122G>A, r.1122g>a, p.Trp374X
Original code Case2
Description Allele 1 and 2: A point mutation in the exon 3 leading to a
Description premature stop codon in the EGF domain
Date 08-Jul-2010 (Rel. 1, Created)
Date 08-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 18190960
RefAuthors Okur, H., Balta, G., Akarsu, N., Oner, A., Patiroglu, T.,
RefAuthors Bay, A., Sayli, T., Unal, S., Gurgey, A.
RefTitle Clinical and molecular aspects of turkish familial
RefTitle hemophagocytic lymphohistiocytosis patients with perforin
RefTitle mutations.
RefLoc Leuk Res:972-975 (2008)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0067: 5577
Feature /change: g -> a
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0067; GI:129819; PRF1C: 1223
Feature /codon: tgg -> tga; 3
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14222; PERF_HUMAN: 374
Feature /change: W -> X
Feature /domain: EGF
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0067: 5577
Feature /change: g -> a
Feature /genomic_region: exon; 3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0067; GI:129819; PRF1C: 1223
Feature /codon: tgg -> tga; 3
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14222; PERF_HUMAN: 374
Feature /change: W -> X
Feature /domain: EGF
Diagnosis Familial haemophagocytic lymphohistiocytosis (FHL2)
Status quo Deceased
Age 4 mo
Sex XY
Ethnic origin Turkey
Parents Consanguineous
Family history Inherited
Symptoms Hematological abnormalities
Symptoms Cytopenia
Symptoms Pancytopenia
Symptoms Hypertriglyceridaemia
Symptoms Splenomegaly
Symptoms Fever
Treatment Steroid
//
ID W374X(25),W374X(25); standard; MUTATION; EGF,EGF
Accession P0152
Systematic name Allele 1 and 2: g.5577G>A, c.1122G>A, r.1122g>a, p.Trp374X
Original code Case3
Description Allele 1 and 2: A point mutation in the exon 3 leading to a
Description premature stop codon in the EGF domain
Date 08-Jul-2010 (Rel. 1, Created)
Date 08-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 18190960
RefAuthors Okur, H., Balta, G., Akarsu, N., Oner, A., Patiroglu, T.,
RefAuthors Bay, A., Sayli, T., Unal, S., Gurgey, A.
RefTitle Clinical and molecular aspects of turkish familial
RefTitle hemophagocytic lymphohistiocytosis patients with perforin
RefTitle mutations.
RefLoc Leuk Res:972-975 (2008)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0067: 5577
Feature /change: g -> a
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0067; GI:129819; PRF1C: 1223
Feature /codon: tgg -> tga; 3
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14222; PERF_HUMAN: 374
Feature /change: W -> X
Feature /domain: EGF
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0067: 5577
Feature /change: g -> a
Feature /genomic_region: exon; 3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0067; GI:129819; PRF1C: 1223
Feature /codon: tgg -> tga; 3
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14222; PERF_HUMAN: 374
Feature /change: W -> X
Feature /domain: EGF
Diagnosis Familial haemophagocytic lymphohistiocytosis (FHL2)
Status quo Deceased
Age 5.5 mo
Sex XX
Ethnic origin Turkey
Parents Consanguineous
Family history Inherited
Symptoms Hematological abnormalities
Symptoms Cytopenia
Symptoms Pancytopenia
Symptoms Anemia
Symptoms Hypertriglyceridaemia
Symptoms Splenomegaly
Symptoms Fever
Treatment HLH-94
//
ID F421C(2),?; standard; MUTATION; C2,C2
Accession P0116
Systematic name Allele 1: g.5717T>G, c.1262T>G, r.1262u>g,
Systematic name p.Phe421Cys
Original code Case No. 40
Description Allele 1: A point mutation in the exon 3 leading to
Description an amino acid change in the C2 domain
Date 21-May-2008 (Rel. 1, Created)
Date 21-May-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17477373
RefAuthors Cannella, S., Santoro, A., Bruno, G., Pillon, M.,
RefAuthors Mussolin, L., Mangili, G., Rosolen, A., Aricx, M.
RefTitle Germline mutations of the perforin gene are a frequent
RefTitle occurrence in childhood anaplastic large cell lymphoma.
RefLoc Cancer:2566-2571 (2007)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0067: 5717
Feature /change: t -> g
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0067; GI:129819; PRF1C: 1363
Feature /codon: ttc -> tgc; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P14222; PERF_HUMAN: 421
Feature /change: F -> C
Feature /domain: C2
Diagnosis Anaplastic Large Cell Lymphoma (ALCL)
Sex XY
Ethnic origin Italian
//
ID T435M(1),T450M(3); standard; MUTATION; C2,C2
Accession P0086
Systematic name Allele 1: g.5759C>T, c.1304C>T, r.1304c>u, p.Thr435Met
Systematic name Allele 2: g.5804C>T, c.1349C>T, r.1349c>u, p.Thr450Met
Original code Pt 2
Description Allele 1: a point mutation in the exon 3 leading to an
Description amino acid change in the C2 domain
Description Allele 2: a point mutation in the exon 3 leading to an
Description amino acid change in the C2 domain
Date 16-Aug-2005 (Rel. 1, Created)
Date 16-Aug-2005 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15728124
RefAuthors Clementi, R., Locatelli, F., Dupre, L., Garaventa, A.,
RefAuthors Emmi, L., Bregni, M., Cefalo, G., Moretta, A., Danesino,
RefAuthors C., Comis, M., Pession, A., Ramenghi, U., Maccario, R.,
RefAuthors Aricx, M., Roncarolo, M. G.
RefTitle A proportion of patients with lymphoma may harbor
RefTitle mutations of the perforin gene.
RefLoc Blood 105:4424-4428 (2005)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0067: 5759
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0067: 1405
Feature /codon: acg -> atg; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P14222; PERF_HUMAN: 435
Feature /change: T -> M
Feature /domain: C2
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0067: 5804
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0067: 1450
Feature /codon: acg -> atg; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: P14222; PERF_HUMAN: 450
Feature /change: T -> M
Feature /domain: C2
Diagnosis FHL2
Sex XY
Age 7
Ethnic origin Caucasoid
Symptoms Hematological abnormalities
Symptoms Hemophagocytosis
Symptoms Infections:
Symptoms Viral: EBV
Symptoms Other clinical features: EBV-positive Hodgkin lymphoma,
Symptoms B-cell non-Hodgkin lymphoma, liver disease
Treatment Bone marrow transplantation: Yes
Treatment Outcome: alive and well
//
ID T435M(2),?; standard; MUTATION; C2
Accession P0093
Systematic name Allele 1: g.5759C>T, c.1304C>T, r.1304c>u,
Systematic name p.Thr435Met
Original code Patient W
Description Allele 1: a point mutation in the exon 3 leading to
Description an amino acid change in the C2 domain
Date 17-Aug-2005 (Rel. 1, Created)
Date 17-Aug-2005 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12599189
RefAuthors McCormick, J., Flower, D. R., Strobel, S., Wallace, D. L.,
RefAuthors Beverley, P. C., Tchilian, E. Z.
RefTitle Novel perforin mutation in a patient with hemophagocytic
RefTitle lymphohistiocytosis and CD45 abnormal splicing.
RefLoc Am J Med Genet A 117:255-260 (2003)
RefNumber [2]
RefCrossRef PUBMED; 7851014
RefAuthors Wagner, R., Morgan, G., Strobel, S.
RefTitle A prospective study of CD45 isoform expression in
RefTitle haemophagocytic lymphohistiocytosis; an abnormal inherited
RefTitle immunophenotype in one family.
RefLoc Clin Exp Immunol 99:216-220 (1995)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0067: 5759
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0067: 1405
Feature /codon: acg -> atg; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P14222; PERF_HUMAN: 435
Feature /change: T -> M
Feature /domain: C2
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: unknown
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: unknown
Feature aa; 6
Feature /rnalink: 5
Feature /name: unknown
Diagnosis FHL2
Sex XY
Ethnic origin Caucasoid; Great Britain
Symptoms Hematological abnormalities
Symptoms Pancytopenia
Symptoms Hypertriglyceridaemia
Symptoms Hemophagocytosis
Symptoms Lymphadenomegaly
Symptoms Hepatosplenomegaly
Symptoms Fever
Symptoms Other clinical features: Diarrhea, pallor, increasing
Symptoms irritability, coagulopathy
Treatment Bone marrow transplantation: Yes
Treatment Donor: matched sibling
Comment -!-Patient's mother and two siblings are heterozygotes, but
Comment -!-healthy. The mutation co-segregated with a homozygous
Comment -!-C77G mutation in the PTPRC gene leading to abnormal CD45
Comment -!-splicing
//
ID T450M(1),T450M(1); standard; MUTATION; C2,C2
Accession P0079
Systematic name Allele 1 and 2: g.5804C>T, c.1349C>T, r.1349c>u,
Systematic name p.Thr450Met
Original code UPN53
Description Allele 1 and 2: a point mutation in the exon 3 leading to
Description an amino acid change in the C2 domain
Date 29-Apr-2005 (Rel. 1, Created)
Date 29-Apr-2005 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15632205
RefAuthors Ishii, E., Ueda, I., Shirakawa, R., Yamamoto, K.,
RefAuthors Horiuchi, H., Ohga, S., Furuno, K., Morimoto, A.,
RefAuthors Imayoshi, M., Ogata, Y., Zaitsu, M., Sako, M., Koike, K.,
RefAuthors Sakata, A., Takada, H., Hara, T., Imashuku, S., Sasazuki,
RefAuthors T., Yasukawa, M.
RefTitle Genetic subtypes of familial hemophagocytic
RefTitle lymphohistiocytosis: correlations with clinical features
RefTitle and cytotoxic T lymphocyte/natural killer cell functions.
RefLoc Blood 105:3442-3448 (2005)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0067: 5804
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0067: 1450
Feature /codon: acg -> atg; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P14222; PERF_HUMAN: 450
Feature /change: T -> M
Feature /domain: C2
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0067: 5804
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0067: 1450
Feature /codon: acg -> atg; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: P14222; PERF_HUMAN: 450
Feature /change: T -> M
Feature /domain: C2
Diagnosis FHL2
Protein exp. Reduced
Sex XX
Age 7
Ethnic origin Mongoloid; Japan
Status quo Alive
//
ID T450M(2),T450M(2); standard; MUTATION; C2,C2
Accession P0081
Systematic name Allele 1 and 2: g.5804C>T, c.1349C>T, r.1349c>u,
Systematic name p.Thr450Met
Original code UPN36
Description Allele 1 and 2: a point mutation in the exon 3 leading to
Description an amino acid change in the C2 domain
Date 29-Apr-2005 (Rel. 1, Created)
Date 29-Apr-2005 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15632205
RefAuthors Ishii, E., Ueda, I., Shirakawa, R., Yamamoto, K.,
RefAuthors Horiuchi, H., Ohga, S., Furuno, K., Morimoto, A.,
RefAuthors Imayoshi, M., Ogata, Y., Zaitsu, M., Sako, M., Koike, K.,
RefAuthors Sakata, A., Takada, H., Hara, T., Imashuku, S., Sasazuki,
RefAuthors T., Yasukawa, M.
RefTitle Genetic subtypes of familial hemophagocytic
RefTitle lymphohistiocytosis: correlations with clinical features
RefTitle and cytotoxic T lymphocyte/natural killer cell functions.
RefLoc Blood 105:3442-3448 (2005)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0067: 5804
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0067: 1450
Feature /codon: acg -> atg; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P14222; PERF_HUMAN: 450
Feature /change: T -> M
Feature /domain: C2
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0067: 5804
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0067: 1450
Feature /codon: acg -> atg; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: P14222; PERF_HUMAN: 450
Feature /change: T -> M
Feature /domain: C2
Diagnosis FHL2
Protein exp. Reduced
Sex XX
Age 1 mo
Ethnic origin Mongoloid; Japan
Status quo Alive
Comment -!-diagnosed at 1 month of age, with relapse occurring 5
Comment years later
//
ID P459L(1),P459L(1); standard; MUTATION; C2,C2
Accession P0074
Systematic name Allele 1 and 2: g.5831C>T, c.1376C>T, r.1376c>u,
Systematic name p.Pro459Leu
Original code Patient 1
Description Allele 1 and 2: a point mutation in the exon 3 leading to
Description an amino acid change in the C2 domain
Date 22-Mar-2005 (Rel. 1, Created)
Date 22-Mar-2005 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15598808
RefAuthors Feldmann, J., Menasche, G., Callebaut, I., Minard-Colin,
RefAuthors V., Bader-Meunier, B., Le Clainche, L., Fischer, A., Le
RefAuthors Deist, F., Tardieu, M., de Saint Basile, G.
RefTitle Severe and progressive encephalitis as a presenting
RefTitle manifestation of a novel missense perforin mutation and
RefTitle impaired cytolytic activity.
RefLoc Blood 105(7):2658-2663 (2005)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0067: 5831
Feature /change: c -> t
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0067: 1477
Feature /codon: ccc -> ctc; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P14222; PERF_HUMAN: 459
Feature /change: P -> L
Feature /domain: C2
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0067: 5831
Feature /change: c -> t
Feature /genomic_region: exon; 3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0067: 1477
Feature /codon: ccc -> ctc; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: P14222; PERF_HUMAN: 459
Feature /change: P -> L
Feature /domain: C2
Diagnosis FHL2
Protein exp. normal perforin expression in circulating lymphocytes, but
Protein exp. its function is impaired
Ethnic origin Negroid; Algeria
Parents Consanguineous
Status quo Deceased; cause of death: persistent epileptic seizures
Status quo leading to coma and death at the age of 12 months
Symptoms Hematological abnormalities
Symptoms Thrombocytopenia
Symptoms Anemia
Symptoms Neurological abnormalities
Symptoms Other clinical features: hypoferritinemia, lymphocytic
Symptoms meningitis, neurological symptoms; poor head control,
Symptoms tremor of extremities and abnormal postural tone for age,
Symptoms seizures, status epilepticus, ataxia, and coma without
Symptoms fever, persistent myoclonus, pyramidal rigidity of lower
Symptoms limbs, right facial weakness, and impaired ocular movements
//
ID P459L(2),P459L(2); standard; MUTATION; C2,C2
Accession P0075
Systematic name Allele 1 and 2: g.5831C>T, c.1376C>T, r.1376c>u,
Systematic name p.Pro459Leu
Original code Patient 2
Description Allele 1 and 2: a point mutation in the exon 3 leading to
Description an amino acid change in the C2 domain
Date 22-Mar-2005 (Rel. 1, Created)
Date 22-Mar-2005 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15598808
RefAuthors Feldmann, J., Menasche, G., Callebaut, I., Minard-Colin,
RefAuthors V., Bader-Meunier, B., Le Clainche, L., Fischer, A., Le
RefAuthors Deist, F., Tardieu, M., de Saint Basile, G.
RefTitle Severe and progressive encephalitis as a presenting
RefTitle manifestation of a novel missense perforin mutation and
RefTitle impaired cytolytic activity.
RefLoc Blood 105(7):2658-2663 (2005)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0067: 5831
Feature /change: c -> t
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0067: 1477
Feature /codon: ccc -> ctc; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P14222; PERF_HUMAN: 459
Feature /change: P -> L
Feature /domain: C2
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0067: 5831
Feature /change: c -> t
Feature /genomic_region: exon; 3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0067: 1477
Feature /codon: ccc -> ctc; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: P14222; PERF_HUMAN: 459
Feature /change: P -> L
Feature /domain: C2
Diagnosis FHL2
Ethnic origin Negroid; Algeria
Parents Consanguineous
Status quo Deceased; cause of death: acute cholestatic hepatitis, at
Status quo age 44 months
Symptoms Hematological abnormalities
Symptoms Pancytopenia
Symptoms Hypertriglyceridaemia
Symptoms Hepatosplenomegaly
Symptoms Fever
Symptoms Neurological abnormalities
Symptoms Other clinical features: poor head control, abnormal
Symptoms postural tone for age, seizures, tetraparesis, cognitive
Symptoms impairment, weight loss and anorexia, lymphocytic
Symptoms meningitis
//
ID P477A(1),?; standard; MUTATION; C2
Accession P0139
Systematic name Allele 1: g.5884C>G, c.1429C>G, r.1429c>g, p.Pro477Ala
Original code Patient 3
Description Allele 1: A point mutation in the exon 3 leading to an
Description amino acid change in the C2 domain
Date 22-May-2008 (Rel. 1, Created)
Date 22-May-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 18198357
RefAuthors Orilieri, E., Cappellano, G., Clementi, R., Cometa, A.,
RefAuthors Ferretti, M., Cerutti, E., Cadario, F., Martinetti, M.,
RefAuthors Larizza, D., Calcaterra, V., D'Annunzio, G., Lorini, R.,
RefAuthors Cerutti, F., Bruno, G., Chiocchetti, A., Dianzani, U.
RefTitle Variations of the perforin gene in patients with type 1
RefTitle diabetes.
RefLoc Diabetes:1078-1083 (2008)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0067: 5884
Feature /change: c -> g
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0067; GI:129819; PRF1C: 1530
Feature /codon: ccc -> gcc; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P14222; PERF_HUMAN: 477
Feature /change: P -> A
Feature /domain: C2
Protein level Reduced
Diagnosis Diabetes Type 1
Ethnic origin Caucasoid; Italy
Symptoms Other clinical features: NK activity defective
//
ID Q481P(2),Q481P(2); standard; MUTATION; C2,C2
Accession P0146
Systematic name Allele 1 and 2: g.5897A>C, c.1442A>C, r.1442a>c,
Systematic name p.Gln481Pro
Description Allele 1 and 2: A point mutation in the exon 3 leading to
Description an amino acid change in the C2 domain
Date 08-Jul-2010 (Rel. 1, Created)
Date 08-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 19639728
RefAuthors Garcia-Astudillo, L. A., Fontalba, A., Mazorra, F., Marin,
RefAuthors M. J., Castellanos, A., Fernandez, S., Tejido, R., Lopez-
RefAuthors Hoyos, M.
RefTitle Severe course of community-acquired pneumonia in an adult
RefTitle patient who is heterozygous for Q481P in the perforin
RefTitle gene: are carriers of the mutation free of risk?
RefLoc J Investig Allergol Clin Immunol:311-316 (2009)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0067: 5897
Feature /change: a -> c
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0067; GI:129819; PRF1C: 1543
Feature /codon: cag -> ccg; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P14222; PERF_HUMAN: 481
Feature /change: Q -> P
Feature /domain: C2
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0067: 5897
Feature /change: a -> c
Feature /genomic_region: exon; 3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0067; GI:129819; PRF1C: 1543
Feature /codon: cag -> ccg; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: P14222; PERF_HUMAN: 481
Feature /change: Q -> P
Feature /domain: C2
Diagnosis Familial haemophagocytic lymphohistiocytosis (FHL2)
Status quo Deceased; cause of death: multiple organ failure
Age 0.5
Sex XX
Family history Inherited
Symptoms Hematological abnormalities
Symptoms Cytopenia
Symptoms Anemia
Symptoms Hypofibrinogenaemia
Symptoms Hepatosplenomegaly
Symptoms Fever
Symptoms Infections:
Symptoms Fungal: aspergillosis
//
ID D491N(1),?; standard; MUTATION; C2,C2
Accession P0115
Systematic name Allele 1: g.5926G>A, c.1471G>A, r.1471g>a,
Systematic name p.Asp491Asn
Original code Case No. 28
Description Allele 1: A point mutation in the exon 3 leading to
Description an amino acid change in the C2 domain
Date 21-May-2008 (Rel. 1, Created)
Date 21-May-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17477373
RefAuthors Cannella, S., Santoro, A., Bruno, G., Pillon, M.,
RefAuthors Mussolin, L., Mangili, G., Rosolen, A., Aricx, M.
RefTitle Germline mutations of the perforin gene are a frequent
RefTitle occurrence in childhood anaplastic large cell lymphoma.
RefLoc Cancer:2566-2571 (2007)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0067: 5926
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0067; GI:129819; PRF1C: 1572
Feature /codon: gat -> aat; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P14222; PERF_HUMAN: 491
Feature /change: D -> N
Feature /domain: C2
Diagnosis Anaplastic Large Cell Lymphoma (ALCL)
Sex XY
Ethnic origin Italian
//
ID A523D(1),A523D(1); standard; MUTATION;
Accession P0149
Systematic name Allele 1 and 2: g.6023C>A, c.1568C>A, r.1568c>a,
Systematic name p.Ala523Asp
Original code Case9
Description Allele 1 and 2: A point mutation in the exon 3 leading to
Description an amino acid change
Date 08-Jul-2010 (Rel. 1, Created)
Date 08-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 18190960
RefAuthors Okur, H., Balta, G., Akarsu, N., Oner, A., Patiroglu, T.,
RefAuthors Bay, A., Sayli, T., Unal, S., Gurgey, A.
RefTitle Clinical and molecular aspects of turkish familial
RefTitle hemophagocytic lymphohistiocytosis patients with perforin
RefTitle mutations.
RefLoc Leuk Res:972-975 (2008)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0067: 6023
Feature /change: c -> a
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0067; GI:129819; PRF1C: 1669
Feature /codon: gcc -> gac; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P14222; PERF_HUMAN: 523
Feature /change: A -> D
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0067: 6023
Feature /change: c -> a
Feature /genomic_region: exon; 3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0067; GI:129819; PRF1C: 1669
Feature /codon: gcc -> gac; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: P14222; PERF_HUMAN: 523
Feature /change: A -> D
Diagnosis Familial haemophagocytic lymphohistiocytosis (FHL2)
Status quo Deceased
Age 3
Sex XX
Ethnic origin Turkey
Parents Consanguineous
Family history Inherited
Symptoms Hematological abnormalities
Symptoms Cytopenia
Symptoms Pancytopenia
Symptoms Hypertriglyceridaemia
Symptoms Splenomegaly
Symptoms Fever
Treatment HLH-2004
//
ID #L526X612(1),#L526X612(1); standard; MUTATION;
Accession P0104
Systematic name Allele 1 and 2: g.6031delT, c.1576delT, r.1576delu,
Systematic name p.Leu526fsX87
Original code Patient 1
Description Allele 1 and 2: a frame shift deletion mutation in the exon
Description 3 leading to a premature stop codon
Date 05-Jun-2006 (Rel. 1, Created)
Date 05-Jun-2006 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 16278825
RefAuthors Zur Stadt, U., Beutel, K., Kolberg, S., Schneppenheim, R.,
RefAuthors Kabisch, H., Janka, G., Hennies, H. C.
RefTitle Mutation spectrum in children with primary hemophagocytic
RefTitle lymphohistiocytosis: molecular and functional analyses of
RefTitle PRF1, UNC13D, STX11, and RAB27A.
RefLoc Hum Mutat 27:62-68 (2006)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0067: 6031
Feature /change: -t
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0067: 1677
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14222; PERF_HUMAN: 526
Feature /change: L ->
Feature /change: CPTWEEAPAW TMSPKCFWGS LQETGVGPCG ENSELGKDQY
Feature /change: AWTEGVLTVG ARAVFVFPLD QACPTRGPHA AQDGFECGPT
Feature /change: QIRKLSX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0067: 6031
Feature /change: -t
Feature /genomic_region: exon; 3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0067: 1677
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P14222; PERF_HUMAN: 526
Feature /change: L ->
Feature /change: CPTWEEAPAW TMSPKCFWGS LQETGVGPCG ENSELGKDQY
Feature /change: AWTEGVLTVG ARAVFVFPLD QACPTRGPHA AQDGFECGPT
Feature /change: QIRKLSX
Diagnosis FHL2
Ethnic origin Caucasoid; Germany
Parents Consanguineous
//
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