Database AP3B1base
Version 1.0
File ap3b1pub.html
Date 16-Jun-2011
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/AP3B1base/
IDR factfile http://structure.bmc.lu.se/idbase/IDRefSeq/xml/idr/ff/FF108.html
Gene AP3B1
Disease Hermansky-Pudlak syndrome 2
OMIM 603401
GDB 9955590
Sequence IDRefSeq:D0103; IDRefSeq:C0103; UniProt:O00203
Numbering start of the entry
Funding Tampere University Hospital Medical Research Fund
Funding European Union
Comments sequence entry reference in every entry;
//
ID #L51X62(1),#L51X62(1); standard; MUTATION;
Accession A0010
Systematic name Allele 1 and 2: g.28101_28104delAGAG, c.153_156delAGAG,
Systematic name r.153_156delagag, p.Glu52fsX11
Original code P3
Description Allele 1 and 2: A frame shift deletion mutation in the exon
Description 2 leading to a premature stop codon
Date 29-Jun-2010 (Rel. 1, Created)
Date 29-Jun-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 19679886
RefAuthors Wenham, M., Grieve, S., Cummins, M., Jones, M. L., Booth,
RefAuthors S., Kilner, R., Ancliff, P. J., Griffiths, G. M., Mumford,
RefAuthors A. D.
RefTitle Two patients with hermansky pudlak syndrome type 2 and
RefTitle novel mutations in AP3B1.
RefLoc Haematologica:333-337 (2010)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0103: 28101..28104
Feature /change: -agag
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0103; GI:2199511; AP3B1C: 245..248
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISS-PROT: A3B1_HUMAN: 51..52
Feature /change: LE -> LATKILLNWM LX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0103: 28101..28104
Feature /change: -agag
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0103; GI:2199511; AP3B1C: 245..248
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: SWISS-PROT: A3B1_HUMAN: 51..52
Feature /change: LE -> LATKILLNWM LX
Symptoms Failure to thrive
Symptoms Physical findings:
Symptoms Neutropenia
Symptoms Others:
Symptoms developmental delay, oculocutaneous albinism,
Symptoms brachiocephaly, respiratory infection, bronchiectasis,
Symptoms thrombocytopenia, hypertriglyceridemia, pulmonary
Symptoms fibrosis
Age 1
Sex XY
Ethnic origin Caucasoid; England
Parents Non-consanguineous
//
ID R302X(1),R302X(1); standard; MUTATION;
Accession A0007
Systematic name Allele 1 and 2: g.114127A>T, c.904A>T, r.904a>u, p.Arg302X
Description Allele 1 and 2: A point mutation in the exon 8 leading to a
Description premature stop codon
Date 11-Aug-2006 (Rel. 1, Created)
Date 11-Aug-2006 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 16551969
RefAuthors Enders, A., Zieger, B., Schwarz, K., Yoshimi, A.,
RefAuthors Speckmann, C., Knoepfle, E. M., Kontny, U., Muller, C.,
RefAuthors Nurden, A., Rohr, J., Henschen, M., Pannicke, U.,
RefAuthors Niemeyer, C., Nurden, P., Ehl, S.
RefTitle Lethal hemophagocytic lymphohistiocytosis in hermansky-
RefTitle pudlak syndrome type II.
RefLoc Blood 108:81-87 (2006)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0103: 114127
Feature /change: a -> t
Feature /genomic_region: exon; 8
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0103: 996
Feature /codon: aga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O00203; AP3B1_HUMAN: 302
Feature /change: R -> X
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0103: 114127
Feature /change: a -> t
Feature /genomic_region: exon; 8
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0103: 996
Feature /codon: aga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O00203; AP3B1_HUMAN: 302
Feature /change: R -> X
Symptoms Infections:
Symptoms Pneumonia;
Symptoms Physical findings:
Symptoms Hepatosplenomegaly; Neutropenia
Sex XY
Parents Consanguineous
Comment The patient also had a heterozygous mutation in RAB27A
//
ID @Q355X360(1a),@I597X608(1a); standard; MUTATION;
Accession A0008
Systematic name Allele 1: g.119856_119857delinsTATCAATATC,
Systematic name c.1063_1064delinsTATCAATATC, r.1063_1064delinsuaucaauauc, ,
Systematic name p.Gln355fsX6
Systematic name Allele 2: g.166503dupA, c.1789dupA, r.1789dupa, ,
Systematic name p.Ile597fsX12
Original code Pt 1
Description Allele 1: A frame shift indel mutation in the exon 10
Description leading to a premature stop codon
Description Allele 2: A frame shift duplication mutation in the exon 16
Description leading to a premature stop codon
Date 08-Sep-2006 (Rel. 1, Created)
Date 08-Sep-2006 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 16507770
RefAuthors Fontana, S., Parolini, S., Vermi, W., Booth, S., Gallo,
RefAuthors F., Donini, M., Benassi, M., Gentili, F., Ferrari, D.,
RefAuthors Notarangelo, L. D., Cavadini, P., Marcenaro, E., Dusi, S.,
RefAuthors Cassatella, M., Facchetti, F., Griffiths, G. M., Moretta,
RefAuthors A., Notarangelo, L. D., Badolato, R.
RefTitle Innate immunity defects in hermansky-pudlak type 2
RefTitle syndrome.
RefLoc Blood:4857-4864 (2006)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: indel
Feature /loc: IDRefSeq: D0103: 119856..119857
Feature /change: ca -> tatcaatatc
Feature /genomic_region: exon; 10
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0103: 1155..1156
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O00203; AP3B1_HUMAN: 355
Feature /change: Q -> YQYQIX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: duplication
Feature /loc: IDRefSeq: D0103: 166504
Feature /change: +a
Feature /genomic_region: exon; 16
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0103: 1882
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O00203; AP3B1_HUMAN: 597
Feature /change: I -> NIPSTKACTT AX
Symptoms Infections:
Symptoms Fever;
Symptoms Physical findings:
Symptoms Lymphadenopathy; Neutropenia
Symptoms Others:
Symptoms nystagmus, retinal hypopigmentation, upper respiratory
Symptoms tract and lymph node infections, urinary tract infection
Symptoms due to Klebsiella pneumoniae, cutaneous abscesses,
Symptoms recurrent sinusitis and pneumonia
Sex XX
Parents Non-consanguineous
Relative AP3B1base; A0009 brother
//
ID @Q355X360(1b),@I597X608(1b); standard; MUTATION;
Accession A0009
Systematic name Allele 1: g.119856_119857delinsTATCAATATC,
Systematic name c.1063_1064delinsTATCAATATC, r.1063_1064delinsuaucaauauc, ,
Systematic name p.Gln355fsX6
Systematic name Allele 2: g.166503dupA, c.1789dupA, r.1789dupa, ,
Systematic name p.Ile597fsX12
Original code Pt 2
Description Allele 1: A frame shift indel mutation in the exon 10
Description leading to a premature stop codon
Description Allele 2: A frame shift duplication mutation in the exon 16
Description leading to a premature stop codon
Date 08-Sep-2006 (Rel. 1, Created)
Date 08-Sep-2006 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 16507770
RefAuthors Fontana, S., Parolini, S., Vermi, W., Booth, S., Gallo,
RefAuthors F., Donini, M., Benassi, M., Gentili, F., Ferrari, D.,
RefAuthors Notarangelo, L. D., Cavadini, P., Marcenaro, E., Dusi, S.,
RefAuthors Cassatella, M., Facchetti, F., Griffiths, G. M., Moretta,
RefAuthors A., Notarangelo, L. D., Badolato, R.
RefTitle Innate immunity defects in hermansky-pudlak type 2
RefTitle syndrome.
RefLoc Blood:4857-4864 (2006)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: indel
Feature /loc: IDRefSeq: D0103: 119856..119857
Feature /change: ca -> tatcaatatc
Feature /genomic_region: exon; 10
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0103: 1155..1156
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O00203; AP3B1_HUMAN: 355
Feature /change: Q -> YQYQIX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: duplication
Feature /loc: IDRefSeq: D0103: 166504
Feature /change: +a
Feature /genomic_region: exon; 16
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0103: 1882
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O00203; AP3B1_HUMAN: 597
Feature /change: I -> NIPSTKACTT AX
Symptoms Infections:
Symptoms Fever;
Symptoms Physical findings:
Symptoms Pancytopenia; Neutropenia
Symptoms Others:
Symptoms nystagmus, partial albinism, rash, diarrhea, splenomegaly,
Symptoms acute otitis and bacterial skin infections
Sex XY
Parents Non-consanguineous
Relative AP3B1base; A0008 sister
//
ID #K389-21(1a),L580R(1a); standard; MUTATION;
Accession A0001
Systematic name Allele 1: g.120045_120107del, c.1166_1228del,
Systematic name r.1166_1228del, p.Lys389del
Systematic name Allele 2: g.166453T>G, c.1739T>G, r.1739u>g, p.Leu580Arg
Original code Patient 40
Description Allele 1: an inframe deletion in the exon 11 leading to an
Description amino acid change
Description Allele 2: a point mutation in the exon 16 leading to an
Description amino acid change
Date 30-Jan-2004 (Rel. 1, Created)
Date 30-Jan-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 10024875
RefAuthors Dell'Angelica, E. C., Shotelersuk, V., Aguilar, R. C.,
RefAuthors Gahl, W. A., Bonifacino, J. S.
RefTitle Altered trafficking of lysosomal proteins in hermansky-
RefTitle pudlak syndrome due to mutations in the beta 3A subunit of
RefTitle the AP-3 adaptor.
RefLoc Mol Cell 3:11-21 (1999)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: AP3B1_DNA: 120045..120107
Feature /change: -agcttgaaat tttgacaaac ttggcaaatg aagccaacat
Feature /change: atcaactctt cttcgagaat ttc
Feature /genomic_region: exon; 11
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: inframe deletion
Feature /loc: EMBL: U81504; GI:2199511; : 1258..1320
Feature aa; 3
Feature /rnalink: 2
Feature /name: deletion; inframe
Feature /loc: UniProt: O00203; AP3B1_HUMAN: 389..410
Feature /change: KLEILTNLAN EANISTLLRE FQ -> K
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: AP3B1_DNA: 166453
Feature /change: t -> g
Feature /genomic_region: exon; 16
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: EMBL: U81504; GI:2199511; : 1831
Feature /codon: ctt -> cgt; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: O00203; AP3B1_HUMAN: 580
Feature /change: L -> R
Sex XY
Relative AP3B1base; A0002 brother
//
ID #K389-21(1b),L580R(1b); standard; MUTATION;
Accession A0002
Systematic name Allele 1: g.120045_120107del, c.1166_1228del,
Systematic name r.1166_1228del, p.Lys389del
Systematic name Allele 2: g.166453T>G, c.1739T>G, r.1739u>g, p.Leu580Arg
Original code Patient 42
Description Allele 1: an inframe deletion in the exon 11 leading to an
Description amino acid change
Description Allele 2: a point mutation in the exon 16 leading to an
Description amino acid change
Date 30-Jan-2004 (Rel. 1, Created)
Date 30-Jan-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 10024875
RefAuthors Dell'Angelica, E. C., Shotelersuk, V., Aguilar, R. C.,
RefAuthors Gahl, W. A., Bonifacino, J. S.
RefTitle Altered trafficking of lysosomal proteins in hermansky-
RefTitle pudlak syndrome due to mutations in the beta 3A subunit of
RefTitle the AP-3 adaptor.
RefLoc Mol Cell 3:11-21 (1999)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: AP3B1_DNA: 120045..120107
Feature /change: -agcttgaaat tttgacaaac ttggcaaatg aagccaacat
Feature /change: atcaactctt cttcgagaat ttc
Feature /genomic_region: exon; 11
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: inframe deletion
Feature /loc: EMBL: U81504; GI:2199511; : 1258..1320
Feature aa; 3
Feature /rnalink: 2
Feature /name: deletion; inframe
Feature /loc: UniProt: O00203; AP3B1_HUMAN: 389..410
Feature /change: KLEILTNLAN EANISTLLRE FQ -> K
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: AP3B1_DNA: 166453
Feature /change: t -> g
Feature /genomic_region: exon; 16
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: EMBL: U81504; GI:2199511; : 1831
Feature /codon: ctt -> cgt; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: O00203; AP3B1_HUMAN: 580
Feature /change: L -> R
Sex XY
Relative AP3B1base; A0001 brother
//
ID R509X(1),E659X(1); standard; MUTATION;
Accession A0003
Systematic name Allele 1: g.154404C>T, c.1525C>T, r.1525c>u, p.Arg509X
Systematic name Allele 2: g.179444G>T, c.1975G>T, r.1975g>u, p.Glu659X
Original code Patient 87
Description Allele 1: a point mutation in the exon 15 leading to a
Description premature stop codon
Description Allele 2: a point mutation in the exon 18 leading to a
Description premature stop codon
Date 30-Jan-2004 (Rel. 1, Created)
Date 30-Jan-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11809908
RefAuthors Huizing, M., Scher, C. D., Strovel, E., Fitzpatrick, D.
RefAuthors L., Hartnell, L. M., Anikster, Y., Gahl, W. A.
RefTitle Nonsense mutations in ADTB3A cause complete deficiency of
RefTitle the beta3A subunit of adaptor complex-3 and severe
RefTitle hermansky-pudlak syndrome type 2.
RefLoc Pediatr Res 51:150-158 (2002)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: AP3B1_DNA: 154404
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 15
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: EMBL: U81504; GI:2199511; : 1617
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O00203; AP3B1_HUMAN: 509
Feature /change: R -> X
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: AP3B1_DNA: 179444
Feature /change: g -> t
Feature /genomic_region: exon; 18
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: EMBL: U81504; GI:2199511; : 2067
Feature /codon: gaa -> taa; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O00203; AP3B1_HUMAN: 659
Feature /change: E -> X
Symptoms Physical findings:
Symptoms Hepatosplenomegaly; Neutropenia
Symptoms Others:
Symptoms Emesis, aspiration, nonspecific interstitial
Symptoms pneumonitis, gross melena associated with a rotavirus
Symptoms infection, Enterococcus, Pseudomonas
Sex XY
Ethnic origin Houma Indian
//
ID Intron 14(1),@G540X565(1); standard; MUTATION;
Accession A0004
Systematic name Allele 1: g.IVS14+6T>C, c.1473+6T>C, r.1473+6u>c,
Systematic name Allele 2: g.154498dupG, c.1619dupG, r.1619dupg,
Systematic name p.Ala541fsX25
Description Allele 1: a point mutation in the intron 14 leading to an
Description amino acid change
Description Allele 2: a frame shift duplication in the exon 15 leading
Description to a premature stop codon
Date 02-Feb-2004 (Rel. 1, Created)
Date 02-Feb-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 14566336
RefAuthors Clark, R. H., Stinchcombe, J. C., Day, A., Blott, E.,
RefAuthors Booth, S., Bossi, G., Hamblin, T., Davies, E. G.,
RefAuthors Griffiths, G. M.
RefTitle Adaptor protein 3-dependent microtubule-mediated movement
RefTitle of lytic granules to the immunological synapse.
RefLoc Nat Immunol 4:1111-1120 (2003)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 4
Feature /name: point
Feature /loc: IDRefSeq: AP3B1_DNA: 139420
Feature /change: t -> c
Feature /genomic_region: intron; 14
Feature dna; 2
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: AP3B1_DNA: 139420
Feature /change: t -> c
Feature /genomic_region: intron; 14
Feature dna; 3
Feature /rnalink: 6
Feature /name: point
Feature /loc: IDRefSeq: AP3B1_DNA: 139420
Feature /change: t -> c
Feature /genomic_region: intron; 14
Feature rna; 4
Feature /dnalink: 1
Feature /aalink: 7
Feature /name: inframe insertion
Feature /loc: EMBL: U81504; GI:2199511; : 1566
Feature /change: +gtgagtatca attaagagat gtttgctgaa ttttattca
Feature rna; 5
Feature /dnalink: 2
Feature /aalink: 8
Feature /name: frameshift
Feature /loc: EMBL: U81504; GI:2199511; : 1456..1565
Feature /change: -aaatagttgt tgctgaaagt gtggttgtta taaagaaatt
Feature /change: actgcaaatg caacctgcac aacatggtga aattattaaa
Feature /change: catatggcca aactcctgga cagtatcact
Feature /note: skipping of exon 14
Feature rna; 6
Feature /dnalink: 3
Feature /aalink: 9
Feature /name: inframe deletion
Feature /loc: EMBL: U81504; GI:2199511; : 1566..1742
Feature /change: -gttcctgttg ctagagcaag tattctttgg ctaattggag
Feature /change: aaaactgtga acgagttcct aaaattgccc ctgatgtttt
Feature /change: gaggaagatg gctaaaagct tcactagtga agatgatctg
Feature /change: gtaaaactgc agatattaaa tctgggagca aaattgtatt
Feature /change: taaccaactc caaacag
Feature /note: skipping of exon 15
Feature /inexloc: +6
Feature /note: also very small amount wild type RNA may be
Feature /note: produced
Feature aa; 7
Feature /rnalink: 4
Feature /name: insertion; inframe
Feature /loc: UniProt: O00203; AP3B1_HUMAN: 492
Feature /change: +VSINXEMFAE FYS
Feature aa; 8
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O00203; AP3B1_HUMAN: 455..491
Feature /change: EIVVAESVVV IKKLLQMQPA QHGEIIKHMA KLLDSIT ->
Feature /change: GSCCX
Feature aa; 9
Feature /rnalink: 6
Feature /name: deletion; inframe
Feature /loc: UniProt: O00203; AP3B1_HUMAN: 492..550
Feature /change: -VPVARASILW LIGENCERVP KIAPDVLRKM AKSFTSEDDL
Feature /change: VKLQILNLGA KLYLTNSKQ
FeatureHeader allele; 2
Feature dna; 10
Feature /rnalink: 11
Feature /name: duplication
Feature /loc: IDRefSeq: AP3B1_DNA: 154499
Feature /change: +g
Feature /genomic_region: exon; 15
Feature rna; 11
Feature /dnalink: 10
Feature /aalink: 12
Feature /name: frameshift
Feature /loc: EMBL: U81504; GI:2199511; : 1712
Feature aa; 12
Feature /rnalink: 11
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O00203; AP3B1_HUMAN: 540
Feature /change: G -> GSKIVFNQLQ TDKIAYPVHI KSRQVX
//
ID Intron 18(1),Intron 18(1); standard; MUTATION;
Accession A0011
Systematic name Allele 1 and 2: g.180242_180866del, c.2077+696_2078-883del,
Systematic name r.2077+696_2078-883del
Original code P.2
Description Allele 1 and 2: A deletion in the intron 18 and exon 19
Description leading to aberrant splicing and frameshift
Date 03-Aug-2010 (Rel. 1, Created)
Date 03-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 19679886
RefAuthors Wenham, M., Grieve, S., Cummins, M., Jones, M. L., Booth,
RefAuthors S., Kilner, R., Ancliff, P. J., Griffiths, G. M., Mumford,
RefAuthors A. D.
RefTitle Two patients with hermansky pudlak syndrome type 2 and
RefTitle novel mutations in AP3B1.
RefLoc Haematologica:333-337 (2010)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0103: 180242..180866
Feature /change: -ctgatgctct tattaacact taagctaata ggcaaatctg
Feature /change: acccaagacc aaacgacacc caactttctc taaaatcttt
Feature /change: attccttgga gaaccagggc ctgtcactct tacatggtta
Feature /change: tctgctaccc tactgtaagg taattcactc ttcttttctc
Feature /change: tgtcttcctt atcaaaaatc tttgttttta gtatctgata
Feature /change: aattaatctg tgatacatta cctgtaattt ctttcattgt
Feature /change: ttatagcata agccagttat ctgacttaat atgtatgtgc
Feature /change: gtgtaacttg gatattacca caaatctaaa atgtccttat
Feature /change: ttagtagctt tattttagta aaataaactt tcctgtttgt
Feature /change: aaatgatgat aatgatgagt gccttaccct gtggcagacc
Feature /change: ctgttgtgtt ctaatctcct ttgtatgttt caaatcattt
Feature /change: aatcttcaca acagctctga aaagtaacta gtgttatccc
Feature /change: catttgctga aaaggaaacc aaaacccaga gaagttgaat
Feature /change: aacttgttca gttttacaac tggcaagtag aagagccagg
Feature /change: atctgaatcc gaacactaac ttgagaaccc atgcttgtac
Feature /change: cccttgtaag ccgtcttaaa acaat
Feature /genomic_region: intron; 18
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature /inexloc: +696
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0103: 180242..180866
Feature /change: -ctgatgctct tattaacact taagctaata ggcaaatctg
Feature /change: acccaagacc aaacgacacc caactttctc taaaatcttt
Feature /change: attccttgga gaaccagggc ctgtcactct tacatggtta
Feature /change: tctgctaccc tactgtaagg taattcactc ttcttttctc
Feature /change: tgtcttcctt atcaaaaatc tttgttttta gtatctgata
Feature /change: aattaatctg tgatacatta cctgtaattt ctttcattgt
Feature /change: ttatagcata agccagttat ctgacttaat atgtatgtgc
Feature /change: gtgtaacttg gatattacca caaatctaaa atgtccttat
Feature /change: ttagtagctt tattttagta aaataaactt tcctgtttgt
Feature /change: aaatgatgat aatgatgagt gccttaccct gtggcagacc
Feature /change: ctgttgtgtt ctaatctcct ttgtatgttt caaatcattt
Feature /change: aatcttcaca acagctctga aaagtaacta gtgttatccc
Feature /change: catttgctga aaaggaaacc aaaacccaga gaagttgaat
Feature /change: aacttgttca gttttacaac tggcaagtag aagagccagg
Feature /change: atctgaatcc gaacactaac ttgagaaccc atgcttgtac
Feature /change: cccttgtaag ccgtcttaaa acaat
Feature /genomic_region: intron; 18
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: unknown
Feature /inexloc: +696
Feature aa; 6
Feature /rnalink: 5
Feature /name: unknown
Symptoms Pendular nystagmus; Albinoid fundi; Hypopigmented skin;
Symptoms Neutropenia;
Age 10 weeks
Sex XX
Ethnic origin Malta
Parents Non-consanguineous
//
ID Deletion(1a),Deletion(1a); standard; MUTATION;
Accession A0005
Systematic name Allele 1 and 2: g.147279..155450del,
Original code Patient no. 29
Description Allele 1 and 2: A deletion of a big part of intron 14,
Description the complete exon 15, and a small part of intron 15
Date 11-Aug-2006 (Rel. 1, Created)
Date 11-Aug-2006 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 16537806
RefAuthors Jung, J., Bohn, G., Allroth, A., Boztug, K., Brandes, G.,
RefAuthors Sandrock, I., Schaffer, A. A., Rathinam, C., Kollner, I.,
RefAuthors Beger, C., Schilke, R., Welte, K., Grimbacher, B., Klein,
RefAuthors C.
RefTitle Identification of a homozygous deletion in the AP3B1 gene
RefTitle causing hermansky-pudlak syndrome, type 2.
RefLoc Blood:362-369 (2006)
RefNumber [2]
RefCrossRef PUBMED; 8042664
RefAuthors Kotzot, D., Richter, K., Gierth-Fiebig, K.
RefTitle Oculocutaneous albinism, immunodeficiency, hematological
RefTitle disorders, and minor anomalies: a new autosomal recessive
RefTitle syndrome?
RefLoc Am J Med Genet:224-227 (1994)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0103: 147279..155450
Feature /change: -agttaatacc ttgtttacag gtaatggtag agaagtatgt
Feature /change: atctgattat gagaaggaac taggagttct gtatctcccc
Feature /change: agacttcttg tgcaaaattt agttaaaact tgtgctagta
Feature /change: aactcgttct ggtcctgttt agaaaggaag aggcaattat
Feature /change: aagtactagg gcttcaggag agtgcagctg ctatacataa
Feature /change: aacctgtaac agtgtatgag gcctgtatct ggcaaaccct
Feature /change: aggctttctt ggaagaaaac tttcttctat ttgagtatat
Feature /change: tcatgtccag ggatacagaa gatacttttg atgtgtaaac
Feature /change: tttctttttc tcgctcattc tctctctttc cctttttttt
Feature /change: tttaatggag tcttgctctg tcaccctggc tggagtgcag
Feature /change: tggcgcaatc tcatctcact gcaacctcca cctcccaggt
Feature /change: tcaagtgatt ctcctgcctc agcctctgag tagttgggat
Feature /change: tacaggcatg cgccaccgtg cctggataat ttttgtgttt
Feature /change: ttagtagaga tggggtttcc ccatgttgac cacgctggtc
Feature /change: tcaaactcct gacctcaggt gatctcaccc cagcctcccg
Feature /change: aagtgctggg attacaggcg tgagccatgg cacctggctg
Feature /change: atgcatcaac tttctcaaca gttgctggac tataagccaa
Feature /change: ataagtacag tcttacagct ctatatagca aagcttattt
Feature /change: ttttcagctt ttgtttttct cagaagataa ccattaatag
Feature /change: atacaaaaat atggtgagaa ttcagtattc acaaaggaaa
Feature /change: ataaaggaac aaatagcagt tttacaaagc cagaaaaaaa
Feature /change: ataagaaaga aagaaaacaa atgtaaaata aataataagt
Feature /change: atttaaaagt aataaagatg gaagaaataa aatcaaatat
Feature /change: ttctcatctt gaatatgaat ggactgaatt ttctcatcaa
Feature /change: aagacagact tacaaattgg aataaaaaca aaaactagct
Feature /change: acaggccatt tatagttaaa gcaccttaat caagtgataa
Feature /change: aagttgaaaa taagaaggta aggaaagaga tattaagcaa
Feature /change: atatgaacaa gaaagtgaga tttacagtta attaaaagca
Feature /change: tttaacaaga taaaaaggaa cattataaaa tgaaaaaagg
Feature /change: gtaatttgta aagaaagtaa taagcacaaa cctatttgca
Feature /change: caaaaaatat ggcaaccaaa taaatatgta aaggaaaaat
Feature /change: ctattcaaaa tgtgaggaga aattgataaa atagttacaa
Feature /change: tgtgtgactg taatgtattt ctctcatatt agatatttct
Feature /change: agtagacaga tataagtaag aaaattaagt aatcaaaaac
Feature /change: ttatttagta aatatagcta aaaccttata tctcttgaac
Feature /change: agataatacc cacttttagg agtatatcca gtgaatattt
Feature /change: tcaaaaaatc aagaatgtat ttaggcataa aggaagctta
Feature /change: aagattttgc attctttgac cttaagcaat gaaatgagac
Feature /change: ttaaataatt taaaagggta ccagaccagt tgtaaagtaa
Feature /change: gaaatgtact ttcagattaa agaatgcatt taaagaagaa
Feature /change: atgcaaactt ttttctaaaa cccaggaaat aaaatgcttt
Feature /change: atttcaaaac atgtaggaca tggctaaagt tataaagatc
Feature /change: accattttta aagtataggg atataaaata aaagaaaaac
Feature /change: gaatcaaaac agaagaggga tcaatgctga ttttgtaaaa
Feature /change: tagaatacaa aaaatatata tgagttgaaa agtacatgtt
Feature /change: aaatctggtc ttttggaaag aaaataaaac aaaattccct
Feature /change: tctaattatt atgaagcaga gagaggtaac aaaagtagac
Feature /change: aaatctggaa tatgataata aaagaaatta aaatacaaga
Feature /change: aagctgtatg gaattctaca gcacacattt gaacttaagg
Feature /change: agaatgaaaa gctgataatt agttgttact gctcatctaa
Feature /change: cgtatctgag gaaactgaag tgcttgaagg tgggacaagc
Feature /change: aaggaagaat caaaacaatt tgttgtgcag aaccctcaaa
Feature /change: atggtcaacc acaagttacc ccaggagaag gtgatgaggg
Feature /change: atgtagcaga cataacttca aagtcaggaa agaagaatga
Feature /change: ttgaatcccc agaatctctc tgttccagtc aggagagctg
Feature /change: tttatacaag aacaatggcc atgtggaaat aaaagcagtg
Feature /change: ttttattaat ccgaccaagt acctgataac tcctaaacgt
Feature /change: aggcaagtga ttttaaaatg tgagccttaa aataagagcc
Feature /change: ttaaatgaga cttctgtcct cctgaatctc tacctatttc
Feature /change: accatcaaac ccaggagtgt cattctaaaa cactgcaatt
Feature /change: ttaggaaaag ccagtctgtc caatatctaa ggacaatggg
Feature /change: tcaatattga gcatgttttc cttcagtgcc tgagccactt
Feature /change: tattagggca gaatcctggg tccatctttc ttctggaagg
Feature /change: agagagaaca gaagtgatag caagacctct tcccacctgg
Feature /change: ccaccttacc tatccttaaa agaagaggtg aaagaagtgg
Feature /change: gaaaatgtcc cactatacac gggtgtggga acaggcaaga
Feature /change: ggatggcctg ggtctgccct gaaaatctgg ctcttgggga
Feature /change: aatggcagga ggcactaagg gagccattgc acaatgtggc
Feature /change: agacaaacag aggatgaagg aataatcctt catctgatta
Feature /change: ataagtaaat atgaccccag tgaggtgaag ttaattgcct
Feature /change: ccttgatgta acaccatcag tgtgggatca gaaccggtct
Feature /change: caacagcttg ctgaccagta ttcttcctag tttaccacac
Feature /change: tcattttgtc gctacccagt gatccagtat gaattttgga
Feature /change: ttcagatttg gagttctgat cctagttcca ccactaacca
Feature /change: gctgtgagat gtgggcaagt ttcttaactc atttgttacc
Feature /change: tagtttcctc atatgtctag tgcagatcat agtagagcat
Feature /change: acttcatagg gctttggcga tgaatgactg agaaaatacg
Feature /change: taaagctctc aaaaacagtg catggcacat ggtaagagct
Feature /change: caatagatat tagctatgta atttgtttta aaaagagaac
Feature /change: atagatttta tcatattgag ggctttgttt taattggtta
Feature /change: tttagtaata attgaaaata taaaaactaa agtttaaatg
Feature /change: tattttacat tttgaattcg gtcaaatcaa atagatttat
Feature /change: gtctgtaata cagtcaactt acatgttctg attgtgagta
Feature /change: ttctgtcctt tggcgtatcc ttcatttatg ataaatactg
Feature /change: gttttggagt tcttctagaa taaaatgcat actatcagct
Feature /change: ggcatggtgg ctcatgcctg taatcccaga actttgggag
Feature /change: gctgaggcgg gaggattgct tgagcccagg agtttgaggt
Feature /change: tgtagtgagc aatgattgca ccaccgcact ccagcctgga
Feature /change: tgacagagta agaccctgtc tttaaaaaac aacaacaaca
Feature /change: acaaaacaac ccatactacc tgtggattgc tctgacagga
Feature /change: tttcacataa tgtttaatgg gacagatggg atttcatatc
Feature /change: ttaacaactg aaagatgtta ttctgtaaaa actgagtaat
Feature /change: attgaaatag cactttgtat ccttgttgcc cagatgcctc
Feature /change: acaggatgcc tgccatttca caagttaccc accctttctc
Feature /change: tggcacccca ttgtaattca ggcttaggct ttaatgcata
Feature /change: ttgagtccag atacagagta ttagatctga tttgctgttg
Feature /change: gtatgcagtt tgcttagatg tctactgatt ttgcctttga
Feature /change: caaatttaaa taaatgaaat tgatgttttt gtagggttta
Feature /change: ctttggactg ttgcactgtg cagtgggctg gtgttgaaac
Feature /change: acaatagctt ttaaattgaa ctgcttacag agtgatctgc
Feature /change: aaaatctttc tagatgtctt tctatagctg ctgtggtgag
Feature /change: ctaggaatca ttatttgttt ttgctggcaa attaatgggt
Feature /change: tgtggtggcc gtggaaactg ccttctagta caaggtttga
Feature /change: aaagtgcatt taatcacttt ctcagggcat ttagaataaa
Feature /change: gaatcaggca aagtcattta caatccaatt tgtctttgag
Feature /change: aatattgaaa agcagagctt cataatgaaa gtattatatc
Feature /change: atatgtatga ctctgtgtgt gtgtctgtac ctgtgtctgt
Feature /change: gtctgtgtgt gtattattag tttggtttta tttcagtgtt
Feature /change: cctatttatt ttgtggttaa aaagaccatg gggaacaaaa
Feature /change: agtgactaat ttacttttct tttttttttg agacagagtc
Feature /change: tcgctctgtc acccaggctg gagtgcagtg gcacaatctt
Feature /change: agctcactgc aacctctgcc tcctgagttc aagtgattct
Feature /change: tttaccttag cctcccaagt agctggaatt acaggagtgt
Feature /change: gccaggctaa ttttgtatat ttagtagaga cagggtatca
Feature /change: ccatgttggc caggctggtc tcaaactcct gtcctcaagt
Feature /change: gatccacccg cctcagcctc ccaaagtgct gggattttag
Feature /change: gcatgagcca ctgtgcctgg cctctaaaaa gtgactaatt
Feature /change: ttcttacttg cctttttttc aggtgcttca aatctttgaa
Feature /change: agtagtggct gtgaattcat agtgtcaatg gtgtataaat
Feature /change: gagagtcctg ttgcttaatg ggaagagaaa gggaaagctg
Feature /change: gaatccaaaa atcttagtat tctgatccca tccacctgct
Feature /change: caaaaatgtt gtctttgtca gtttcctaag ctttgtaata
Feature /change: caatgccatc accaaaagtt tggtatattt atattgatat
Feature /change: tatttcttgt ggtgaagttt tctaagtttt aaaaattctt
Feature /change: ggggatttta ttagctcagt tctagaaaac tacaaatctt
Feature /change: attctcacca ccatcttgag atttttattg tgagcattgt
Feature /change: gatttattga tttttaattt tttcaaagag ttgtatttta
Feature /change: aatatatgta tcgtgagtgt ttacagtatt ccaatatttt
Feature /change: aattttaatt ttagtatatt catgaatata aacaatctct
Feature /change: ttaaacatta cttgtttttg ggatcgtctt tttaattgca
Feature /change: aaagattgtt accagaagaa aattacttaa aatgggataa
Feature /change: tagattatgg tatgtcatag aattctgatt tttatactag
Feature /change: caatatataa taaaatattt aagaaaaata aatctagcat
Feature /change: aactgaaatt tgaagttgca catatattct tatttagaac
Feature /change: tacctttcat tatggcaggc aacttgaatt cctctatact
Feature /change: ggaaaattta atgtaccact caattactat tctttagccc
Feature /change: aatttaaaat aatagattgg gagtaaggtc ttaatgcagt
Feature /change: gtaacctttg gaacgttaga aataacctct tttctttcca
Feature /change: gaaatcagta tgcagtaagg gcatcagttt tatcacactg
Feature /change: catgaataga tttttaatag cacttagacc tttttctaat
Feature /change: tgcacaagta tatggatttc ttgtgtctca ccaaacatgc
Feature /change: taaataataa tttaaagaca tgctgttaca ctgttttaaa
Feature /change: atatatacct ttttatttaa aagctttttt gatcatctca
Feature /change: ttctgattct agtgaaggac tcaatattgt aacttaatat
Feature /change: ttttatataa tttcataatg tgggtgtttt gaaagatttt
Feature /change: gcaatggtag atattgtgat aaaattttag ctatggaaag
Feature /change: gtccttattc tcactttttt ctttaacaat cctactatgt
Feature /change: atagccatga aactacagaa aatattagga ctttgagaaa
Feature /change: ttgtaaaagg acttcataaa aagaacatta tctttcctcg
Feature /change: tgatgccacc ttttaatgat agctgtcagc cttttcactt
Feature /change: attataaaaa acaaattttc tgtgcgaggt gaaaatgttc
Feature /change: actgaaatga atttacacac cctctcaaat tccttttgga
Feature /change: ataggggagg atgcaaataa gcaaatagta ataaaactaa
Feature /change: tttgcatact ctaaattgtt ggtcttaatg gtactgatgg
Feature /change: aaggtttcca atttgtcaca aagcagtgac ttttaagaac
Feature /change: ataaattata ttgaaatgca gtttatttaa aaatatagtg
Feature /change: ccaaaatgca atattggaca aatttatccc tgtttctttt
Feature /change: gttgaccaaa taatagactg ggattcatga ttttataagc
Feature /change: agaccttgat gatcttatca gtttgatata tttccagtgt
Feature /change: tgtagatgct aatacataaa gagcaaaaac agttttgatt
Feature /change: tggaatcata gtacctaatt gatctgtttc tttttctgta
Feature /change: ttatctgtgg gttctcaaat gggctttgtg gaccacctgt
Feature /change: ctcaggagtc atctgtgatg ctttttaaat taaaacatag
Feature /change: atttctgggc cccaccacag aaatactatt ttggagctga
Feature /change: tcccaggacc tgtcttttta gtaagaaccc tggatgattt
Feature /change: ttgtgggcat tgaggtttgg gaactgctgt tctagagcag
Feature /change: gggtcagcaa accatttcta taaattgcta gacagtcaat
Feature /change: atttttggct ttgaggacca tatggtcttc actgtaacta
Feature /change: tttctgccat tatagcacaa aagcagcaac agataatgga
Feature /change: gaaacaaata ggtatgggca gctagactgg cttctagaat
Feature /change: ttgttcgtct ctgatagaat ctagattcta gaccatcggt
Feature /change: ttttgctgta tgaatatttt ctaagatatt ctcttcgaaa
Feature /change: tcaattttaa tgagatttcc tatgtgttta ttttttgata
Feature /change: actgacgaaa attcataaat acaggattaa ttcctagata
Feature /change: tacattaaat taattaatag ctgtaaaact tttgtaatag
Feature /change: ttaaaacctt ttctatgtta atattagagt atgattaact
Feature /change: tacttctaac tatgtaatct gcttctcata ttaggttcct
Feature /change: gttgctagag caagtattct ttggctaatt ggagaaaact
Feature /change: gtgaacgagt tcctaaaatt gcccctgatg ttttgaggaa
Feature /change: gatggctaaa agcttcacta gtgaagatga tctggtaaaa
Feature /change: ctgcagatat taaatctggg agcaaaattg tatttaacca
Feature /change: actccaaaca ggtgagaggc aaatgttagt caacctatct
Feature /change: aatacgtact ttcctcttca ctctgatcaa acagcggggg
Feature /change: tctgtgcctt cattagtctg accattcaac aatttctagg
Feature /change: tgcctgtttg tttcaggttc tatgttagat gatactagtg
Feature /change: caaacagatg acattctagt ctagtaagag agaaaacaga
Feature /change: ttaaaaaatg aaatagtgtg tgttaatgct gtagcagaag
Feature /change: tattgacata cagtggaatt ctagacgaat tataaagtct
Feature /change: gaagtcgatg tgaggtcaga gaaaatttta taaaggatga
Feature /change: aactcttgac taagggcttg taagagtggt ttactgtaca
Feature /change: gaaagaggaa agcacagggt cagagtcaag aaacagcttg
Feature /change: gtgtttctgg gaaacttttt gaaggtgagt ccagaatggc
Feature /change: aggtacaatg gtctgaaagt ttatatcccc caaagttcat
Feature /change: gtggtgaaac ctgatcaccc atgtgatggt attaggaggt
Feature /change: aggacctttg ggaggtgatt aggtcataag ggtggagcct
Feature /change: ttataaatga actttatgct cttagaaaag agatccctga
Feature /change: gagctagctt gctgcttctg ccatgtgagg acacagtgag
Feature /change: aaggtgctat ctgtaaatta gaaaatgggt gctcactaga
Feature /change: caccagaact gtgggtacct tgatcttgga tttcccagcc
Feature /change: tccagaactg tgagaaataa atttttatta ttaattatat
Feature /change: tattaatagg cttcccagtt tatggtattt tctaacagta
Feature /change: gcccaaatgg actaagacat tttgcagttt gaacgcatgg
Feature /change: agtggcttgt atgctctgct aagtagtatg gaccttgtcc
Feature /change: tgcagaggaa agggaaacca cttttaatag tagtataatt
Feature /change: taccagattt gc
Feature /genomic_region: intron; 14
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: inframe deletion
Feature /loc: IDRefSeq: C0103: 1566..1742
Feature /change: -gttcctgttg ctagagcaag tattctttgg ctaattggag
Feature /change: aaaactgtga acgagttcct aaaattgccc ctgatgtttt
Feature /change: gaggaagatg gctaaaagct tcactagtga agatgatctg
Feature /change: gtaaaactgc agatattaaa tctgggagca aaattgtatt
Feature /change: taaccaactc caaacag
Feature /note: skipping of exon 15
Feature /inexloc: -7074
Feature aa; 3
Feature /rnalink: 2
Feature /name: deletion; inframe
Feature /loc: UniProt: O00203; AP3B1_HUMAN: 492..550
Feature /change: -VPVARASILW LIGENCERVP KIAPDVLRKM AKSFTSEDDL
Feature /change: VKLQILNLGA KLYLTNSKQ
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0103: 147279..155450
Feature /change: -agttaatacc ttgtttacag gtaatggtag agaagtatgt
Feature /change: atctgattat gagaaggaac taggagttct gtatctcccc
Feature /change: agacttcttg tgcaaaattt agttaaaact tgtgctagta
Feature /change: aactcgttct ggtcctgttt agaaaggaag aggcaattat
Feature /change: aagtactagg gcttcaggag agtgcagctg ctatacataa
Feature /change: aacctgtaac agtgtatgag gcctgtatct ggcaaaccct
Feature /change: aggctttctt ggaagaaaac tttcttctat ttgagtatat
Feature /change: tcatgtccag ggatacagaa gatacttttg atgtgtaaac
Feature /change: tttctttttc tcgctcattc tctctctttc cctttttttt
Feature /change: tttaatggag tcttgctctg tcaccctggc tggagtgcag
Feature /change: tggcgcaatc tcatctcact gcaacctcca cctcccaggt
Feature /change: tcaagtgatt ctcctgcctc agcctctgag tagttgggat
Feature /change: tacaggcatg cgccaccgtg cctggataat ttttgtgttt
Feature /change: ttagtagaga tggggtttcc ccatgttgac cacgctggtc
Feature /change: tcaaactcct gacctcaggt gatctcaccc cagcctcccg
Feature /change: aagtgctggg attacaggcg tgagccatgg cacctggctg
Feature /change: atgcatcaac tttctcaaca gttgctggac tataagccaa
Feature /change: ataagtacag tcttacagct ctatatagca aagcttattt
Feature /change: ttttcagctt ttgtttttct cagaagataa ccattaatag
Feature /change: atacaaaaat atggtgagaa ttcagtattc acaaaggaaa
Feature /change: ataaaggaac aaatagcagt tttacaaagc cagaaaaaaa
Feature /change: ataagaaaga aagaaaacaa atgtaaaata aataataagt
Feature /change: atttaaaagt aataaagatg gaagaaataa aatcaaatat
Feature /change: ttctcatctt gaatatgaat ggactgaatt ttctcatcaa
Feature /change: aagacagact tacaaattgg aataaaaaca aaaactagct
Feature /change: acaggccatt tatagttaaa gcaccttaat caagtgataa
Feature /change: aagttgaaaa taagaaggta aggaaagaga tattaagcaa
Feature /change: atatgaacaa gaaagtgaga tttacagtta attaaaagca
Feature /change: tttaacaaga taaaaaggaa cattataaaa tgaaaaaagg
Feature /change: gtaatttgta aagaaagtaa taagcacaaa cctatttgca
Feature /change: caaaaaatat ggcaaccaaa taaatatgta aaggaaaaat
Feature /change: ctattcaaaa tgtgaggaga aattgataaa atagttacaa
Feature /change: tgtgtgactg taatgtattt ctctcatatt agatatttct
Feature /change: agtagacaga tataagtaag aaaattaagt aatcaaaaac
Feature /change: ttatttagta aatatagcta aaaccttata tctcttgaac
Feature /change: agataatacc cacttttagg agtatatcca gtgaatattt
Feature /change: tcaaaaaatc aagaatgtat ttaggcataa aggaagctta
Feature /change: aagattttgc attctttgac cttaagcaat gaaatgagac
Feature /change: ttaaataatt taaaagggta ccagaccagt tgtaaagtaa
Feature /change: gaaatgtact ttcagattaa agaatgcatt taaagaagaa
Feature /change: atgcaaactt ttttctaaaa cccaggaaat aaaatgcttt
Feature /change: atttcaaaac atgtaggaca tggctaaagt tataaagatc
Feature /change: accattttta aagtataggg atataaaata aaagaaaaac
Feature /change: gaatcaaaac agaagaggga tcaatgctga ttttgtaaaa
Feature /change: tagaatacaa aaaatatata tgagttgaaa agtacatgtt
Feature /change: aaatctggtc ttttggaaag aaaataaaac aaaattccct
Feature /change: tctaattatt atgaagcaga gagaggtaac aaaagtagac
Feature /change: aaatctggaa tatgataata aaagaaatta aaatacaaga
Feature /change: aagctgtatg gaattctaca gcacacattt gaacttaagg
Feature /change: agaatgaaaa gctgataatt agttgttact gctcatctaa
Feature /change: cgtatctgag gaaactgaag tgcttgaagg tgggacaagc
Feature /change: aaggaagaat caaaacaatt tgttgtgcag aaccctcaaa
Feature /change: atggtcaacc acaagttacc ccaggagaag gtgatgaggg
Feature /change: atgtagcaga cataacttca aagtcaggaa agaagaatga
Feature /change: ttgaatcccc agaatctctc tgttccagtc aggagagctg
Feature /change: tttatacaag aacaatggcc atgtggaaat aaaagcagtg
Feature /change: ttttattaat ccgaccaagt acctgataac tcctaaacgt
Feature /change: aggcaagtga ttttaaaatg tgagccttaa aataagagcc
Feature /change: ttaaatgaga cttctgtcct cctgaatctc tacctatttc
Feature /change: accatcaaac ccaggagtgt cattctaaaa cactgcaatt
Feature /change: ttaggaaaag ccagtctgtc caatatctaa ggacaatggg
Feature /change: tcaatattga gcatgttttc cttcagtgcc tgagccactt
Feature /change: tattagggca gaatcctggg tccatctttc ttctggaagg
Feature /change: agagagaaca gaagtgatag caagacctct tcccacctgg
Feature /change: ccaccttacc tatccttaaa agaagaggtg aaagaagtgg
Feature /change: gaaaatgtcc cactatacac gggtgtggga acaggcaaga
Feature /change: ggatggcctg ggtctgccct gaaaatctgg ctcttgggga
Feature /change: aatggcagga ggcactaagg gagccattgc acaatgtggc
Feature /change: agacaaacag aggatgaagg aataatcctt catctgatta
Feature /change: ataagtaaat atgaccccag tgaggtgaag ttaattgcct
Feature /change: ccttgatgta acaccatcag tgtgggatca gaaccggtct
Feature /change: caacagcttg ctgaccagta ttcttcctag tttaccacac
Feature /change: tcattttgtc gctacccagt gatccagtat gaattttgga
Feature /change: ttcagatttg gagttctgat cctagttcca ccactaacca
Feature /change: gctgtgagat gtgggcaagt ttcttaactc atttgttacc
Feature /change: tagtttcctc atatgtctag tgcagatcat agtagagcat
Feature /change: acttcatagg gctttggcga tgaatgactg agaaaatacg
Feature /change: taaagctctc aaaaacagtg catggcacat ggtaagagct
Feature /change: caatagatat tagctatgta atttgtttta aaaagagaac
Feature /change: atagatttta tcatattgag ggctttgttt taattggtta
Feature /change: tttagtaata attgaaaata taaaaactaa agtttaaatg
Feature /change: tattttacat tttgaattcg gtcaaatcaa atagatttat
Feature /change: gtctgtaata cagtcaactt acatgttctg attgtgagta
Feature /change: ttctgtcctt tggcgtatcc ttcatttatg ataaatactg
Feature /change: gttttggagt tcttctagaa taaaatgcat actatcagct
Feature /change: ggcatggtgg ctcatgcctg taatcccaga actttgggag
Feature /change: gctgaggcgg gaggattgct tgagcccagg agtttgaggt
Feature /change: tgtagtgagc aatgattgca ccaccgcact ccagcctgga
Feature /change: tgacagagta agaccctgtc tttaaaaaac aacaacaaca
Feature /change: acaaaacaac ccatactacc tgtggattgc tctgacagga
Feature /change: tttcacataa tgtttaatgg gacagatggg atttcatatc
Feature /change: ttaacaactg aaagatgtta ttctgtaaaa actgagtaat
Feature /change: attgaaatag cactttgtat ccttgttgcc cagatgcctc
Feature /change: acaggatgcc tgccatttca caagttaccc accctttctc
Feature /change: tggcacccca ttgtaattca ggcttaggct ttaatgcata
Feature /change: ttgagtccag atacagagta ttagatctga tttgctgttg
Feature /change: gtatgcagtt tgcttagatg tctactgatt ttgcctttga
Feature /change: caaatttaaa taaatgaaat tgatgttttt gtagggttta
Feature /change: ctttggactg ttgcactgtg cagtgggctg gtgttgaaac
Feature /change: acaatagctt ttaaattgaa ctgcttacag agtgatctgc
Feature /change: aaaatctttc tagatgtctt tctatagctg ctgtggtgag
Feature /change: ctaggaatca ttatttgttt ttgctggcaa attaatgggt
Feature /change: tgtggtggcc gtggaaactg ccttctagta caaggtttga
Feature /change: aaagtgcatt taatcacttt ctcagggcat ttagaataaa
Feature /change: gaatcaggca aagtcattta caatccaatt tgtctttgag
Feature /change: aatattgaaa agcagagctt cataatgaaa gtattatatc
Feature /change: atatgtatga ctctgtgtgt gtgtctgtac ctgtgtctgt
Feature /change: gtctgtgtgt gtattattag tttggtttta tttcagtgtt
Feature /change: cctatttatt ttgtggttaa aaagaccatg gggaacaaaa
Feature /change: agtgactaat ttacttttct tttttttttg agacagagtc
Feature /change: tcgctctgtc acccaggctg gagtgcagtg gcacaatctt
Feature /change: agctcactgc aacctctgcc tcctgagttc aagtgattct
Feature /change: tttaccttag cctcccaagt agctggaatt acaggagtgt
Feature /change: gccaggctaa ttttgtatat ttagtagaga cagggtatca
Feature /change: ccatgttggc caggctggtc tcaaactcct gtcctcaagt
Feature /change: gatccacccg cctcagcctc ccaaagtgct gggattttag
Feature /change: gcatgagcca ctgtgcctgg cctctaaaaa gtgactaatt
Feature /change: ttcttacttg cctttttttc aggtgcttca aatctttgaa
Feature /change: agtagtggct gtgaattcat agtgtcaatg gtgtataaat
Feature /change: gagagtcctg ttgcttaatg ggaagagaaa gggaaagctg
Feature /change: gaatccaaaa atcttagtat tctgatccca tccacctgct
Feature /change: caaaaatgtt gtctttgtca gtttcctaag ctttgtaata
Feature /change: caatgccatc accaaaagtt tggtatattt atattgatat
Feature /change: tatttcttgt ggtgaagttt tctaagtttt aaaaattctt
Feature /change: ggggatttta ttagctcagt tctagaaaac tacaaatctt
Feature /change: attctcacca ccatcttgag atttttattg tgagcattgt
Feature /change: gatttattga tttttaattt tttcaaagag ttgtatttta
Feature /change: aatatatgta tcgtgagtgt ttacagtatt ccaatatttt
Feature /change: aattttaatt ttagtatatt catgaatata aacaatctct
Feature /change: ttaaacatta cttgtttttg ggatcgtctt tttaattgca
Feature /change: aaagattgtt accagaagaa aattacttaa aatgggataa
Feature /change: tagattatgg tatgtcatag aattctgatt tttatactag
Feature /change: caatatataa taaaatattt aagaaaaata aatctagcat
Feature /change: aactgaaatt tgaagttgca catatattct tatttagaac
Feature /change: tacctttcat tatggcaggc aacttgaatt cctctatact
Feature /change: ggaaaattta atgtaccact caattactat tctttagccc
Feature /change: aatttaaaat aatagattgg gagtaaggtc ttaatgcagt
Feature /change: gtaacctttg gaacgttaga aataacctct tttctttcca
Feature /change: gaaatcagta tgcagtaagg gcatcagttt tatcacactg
Feature /change: catgaataga tttttaatag cacttagacc tttttctaat
Feature /change: tgcacaagta tatggatttc ttgtgtctca ccaaacatgc
Feature /change: taaataataa tttaaagaca tgctgttaca ctgttttaaa
Feature /change: atatatacct ttttatttaa aagctttttt gatcatctca
Feature /change: ttctgattct agtgaaggac tcaatattgt aacttaatat
Feature /change: ttttatataa tttcataatg tgggtgtttt gaaagatttt
Feature /change: gcaatggtag atattgtgat aaaattttag ctatggaaag
Feature /change: gtccttattc tcactttttt ctttaacaat cctactatgt
Feature /change: atagccatga aactacagaa aatattagga ctttgagaaa
Feature /change: ttgtaaaagg acttcataaa aagaacatta tctttcctcg
Feature /change: tgatgccacc ttttaatgat agctgtcagc cttttcactt
Feature /change: attataaaaa acaaattttc tgtgcgaggt gaaaatgttc
Feature /change: actgaaatga atttacacac cctctcaaat tccttttgga
Feature /change: ataggggagg atgcaaataa gcaaatagta ataaaactaa
Feature /change: tttgcatact ctaaattgtt ggtcttaatg gtactgatgg
Feature /change: aaggtttcca atttgtcaca aagcagtgac ttttaagaac
Feature /change: ataaattata ttgaaatgca gtttatttaa aaatatagtg
Feature /change: ccaaaatgca atattggaca aatttatccc tgtttctttt
Feature /change: gttgaccaaa taatagactg ggattcatga ttttataagc
Feature /change: agaccttgat gatcttatca gtttgatata tttccagtgt
Feature /change: tgtagatgct aatacataaa gagcaaaaac agttttgatt
Feature /change: tggaatcata gtacctaatt gatctgtttc tttttctgta
Feature /change: ttatctgtgg gttctcaaat gggctttgtg gaccacctgt
Feature /change: ctcaggagtc atctgtgatg ctttttaaat taaaacatag
Feature /change: atttctgggc cccaccacag aaatactatt ttggagctga
Feature /change: tcccaggacc tgtcttttta gtaagaaccc tggatgattt
Feature /change: ttgtgggcat tgaggtttgg gaactgctgt tctagagcag
Feature /change: gggtcagcaa accatttcta taaattgcta gacagtcaat
Feature /change: atttttggct ttgaggacca tatggtcttc actgtaacta
Feature /change: tttctgccat tatagcacaa aagcagcaac agataatgga
Feature /change: gaaacaaata ggtatgggca gctagactgg cttctagaat
Feature /change: ttgttcgtct ctgatagaat ctagattcta gaccatcggt
Feature /change: ttttgctgta tgaatatttt ctaagatatt ctcttcgaaa
Feature /change: tcaattttaa tgagatttcc tatgtgttta ttttttgata
Feature /change: actgacgaaa attcataaat acaggattaa ttcctagata
Feature /change: tacattaaat taattaatag ctgtaaaact tttgtaatag
Feature /change: ttaaaacctt ttctatgtta atattagagt atgattaact
Feature /change: tacttctaac tatgtaatct gcttctcata ttaggttcct
Feature /change: gttgctagag caagtattct ttggctaatt ggagaaaact
Feature /change: gtgaacgagt tcctaaaatt gcccctgatg ttttgaggaa
Feature /change: gatggctaaa agcttcacta gtgaagatga tctggtaaaa
Feature /change: ctgcagatat taaatctggg agcaaaattg tatttaacca
Feature /change: actccaaaca ggtgagaggc aaatgttagt caacctatct
Feature /change: aatacgtact ttcctcttca ctctgatcaa acagcggggg
Feature /change: tctgtgcctt cattagtctg accattcaac aatttctagg
Feature /change: tgcctgtttg tttcaggttc tatgttagat gatactagtg
Feature /change: caaacagatg acattctagt ctagtaagag agaaaacaga
Feature /change: ttaaaaaatg aaatagtgtg tgttaatgct gtagcagaag
Feature /change: tattgacata cagtggaatt ctagacgaat tataaagtct
Feature /change: gaagtcgatg tgaggtcaga gaaaatttta taaaggatga
Feature /change: aactcttgac taagggcttg taagagtggt ttactgtaca
Feature /change: gaaagaggaa agcacagggt cagagtcaag aaacagcttg
Feature /change: gtgtttctgg gaaacttttt gaaggtgagt ccagaatggc
Feature /change: aggtacaatg gtctgaaagt ttatatcccc caaagttcat
Feature /change: gtggtgaaac ctgatcaccc atgtgatggt attaggaggt
Feature /change: aggacctttg ggaggtgatt aggtcataag ggtggagcct
Feature /change: ttataaatga actttatgct cttagaaaag agatccctga
Feature /change: gagctagctt gctgcttctg ccatgtgagg acacagtgag
Feature /change: aaggtgctat ctgtaaatta gaaaatgggt gctcactaga
Feature /change: caccagaact gtgggtacct tgatcttgga tttcccagcc
Feature /change: tccagaactg tgagaaataa atttttatta ttaattatat
Feature /change: tattaatagg cttcccagtt tatggtattt tctaacagta
Feature /change: gcccaaatgg actaagacat tttgcagttt gaacgcatgg
Feature /change: agtggcttgt atgctctgct aagtagtatg gaccttgtcc
Feature /change: tgcagaggaa agggaaacca cttttaatag tagtataatt
Feature /change: taccagattt gc
Feature /genomic_region: intron; 14
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: inframe deletion
Feature /loc: IDRefSeq: C0103: 1566..1742
Feature /change: -gttcctgttg ctagagcaag tattctttgg ctaattggag
Feature /change: aaaactgtga acgagttcct aaaattgccc ctgatgtttt
Feature /change: gaggaagatg gctaaaagct tcactagtga agatgatctg
Feature /change: gtaaaactgc agatattaaa tctgggagca aaattgtatt
Feature /change: taaccaactc caaacag
Feature /note: skipping of exon 15
Feature /inexloc: -7074
Feature aa; 3
Feature /rnalink: 2
Feature /name: deletion; inframe
Feature /loc: UniProt: O00203; AP3B1_HUMAN: 492..550
Feature /change: -VPVARASILW LIGENCERVP KIAPDVLRKM AKSFTSEDDL
Feature /change: VKLQILNLGA KLYLTNSKQ
Symptoms Mental retardation
Symptoms Physical findings:
Symptoms Neutropenia
Symptoms Others:
Symptoms coarse facial features, hypopigmentation, splenomegaly,
Symptoms thrombocytopenia, severe dental decay and aggressive
Symptoms periodontitis, recurrent skin abscesses
Sex XX
Ethnic origin Caucasoid; Turkey
Parents Consanguineous
Relative AP3B1base; A0006 cousin
//
ID Deletion(1b),Deletion(1b); standard; MUTATION;
Accession A0006
Systematic name Allele 1 and 2: g.147279..155450del,
Original code Patient no. 30
Description Allele 1 and 2: A deletion of a big part of intron 14,
Description the complete exon 15, and a small part of intron 15
Date 11-Aug-2006 (Rel. 1, Created)
Date 11-Aug-2006 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 16537806
RefAuthors Jung, J., Bohn, G., Allroth, A., Boztug, K., Brandes, G.,
RefAuthors Sandrock, I., Schaffer, A. A., Rathinam, C., Kollner, I.,
RefAuthors Beger, C., Schilke, R., Welte, K., Grimbacher, B., Klein,
RefAuthors C.
RefTitle Identification of a homozygous deletion in the AP3B1 gene
RefTitle causing hermansky-pudlak syndrome, type 2.
RefLoc Blood 108:362-369 (2006)
RefNumber [2]
RefCrossRef PUBMED; 8042664
RefAuthors Kotzot, D., Richter, K., Gierth-Fiebig, K.
RefTitle Oculocutaneous albinism, immunodeficiency, hematological
RefTitle disorders, and minor anomalies: a new autosomal recessive
RefTitle syndrome?
RefLoc Am J Med Genet 50:224-227 (1994)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0103: 147279..155450
Feature /change: -agttaatacc ttgtttacag gtaatggtag agaagtatgt
Feature /change: atctgattat gagaaggaac taggagttct gtatctcccc
Feature /change: agacttcttg tgcaaaattt agttaaaact tgtgctagta
Feature /change: aactcgttct ggtcctgttt agaaaggaag aggcaattat
Feature /change: aagtactagg gcttcaggag agtgcagctg ctatacataa
Feature /change: aacctgtaac agtgtatgag gcctgtatct ggcaaaccct
Feature /change: aggctttctt ggaagaaaac tttcttctat ttgagtatat
Feature /change: tcatgtccag ggatacagaa gatacttttg atgtgtaaac
Feature /change: tttctttttc tcgctcattc tctctctttc cctttttttt
Feature /change: tttaatggag tcttgctctg tcaccctggc tggagtgcag
Feature /change: tggcgcaatc tcatctcact gcaacctcca cctcccaggt
Feature /change: tcaagtgatt ctcctgcctc agcctctgag tagttgggat
Feature /change: tacaggcatg cgccaccgtg cctggataat ttttgtgttt
Feature /change: ttagtagaga tggggtttcc ccatgttgac cacgctggtc
Feature /change: tcaaactcct gacctcaggt gatctcaccc cagcctcccg
Feature /change: aagtgctggg attacaggcg tgagccatgg cacctggctg
Feature /change: atgcatcaac tttctcaaca gttgctggac tataagccaa
Feature /change: ataagtacag tcttacagct ctatatagca aagcttattt
Feature /change: ttttcagctt ttgtttttct cagaagataa ccattaatag
Feature /change: atacaaaaat atggtgagaa ttcagtattc acaaaggaaa
Feature /change: ataaaggaac aaatagcagt tttacaaagc cagaaaaaaa
Feature /change: ataagaaaga aagaaaacaa atgtaaaata aataataagt
Feature /change: atttaaaagt aataaagatg gaagaaataa aatcaaatat
Feature /change: ttctcatctt gaatatgaat ggactgaatt ttctcatcaa
Feature /change: aagacagact tacaaattgg aataaaaaca aaaactagct
Feature /change: acaggccatt tatagttaaa gcaccttaat caagtgataa
Feature /change: aagttgaaaa taagaaggta aggaaagaga tattaagcaa
Feature /change: atatgaacaa gaaagtgaga tttacagtta attaaaagca
Feature /change: tttaacaaga taaaaaggaa cattataaaa tgaaaaaagg
Feature /change: gtaatttgta aagaaagtaa taagcacaaa cctatttgca
Feature /change: caaaaaatat ggcaaccaaa taaatatgta aaggaaaaat
Feature /change: ctattcaaaa tgtgaggaga aattgataaa atagttacaa
Feature /change: tgtgtgactg taatgtattt ctctcatatt agatatttct
Feature /change: agtagacaga tataagtaag aaaattaagt aatcaaaaac
Feature /change: ttatttagta aatatagcta aaaccttata tctcttgaac
Feature /change: agataatacc cacttttagg agtatatcca gtgaatattt
Feature /change: tcaaaaaatc aagaatgtat ttaggcataa aggaagctta
Feature /change: aagattttgc attctttgac cttaagcaat gaaatgagac
Feature /change: ttaaataatt taaaagggta ccagaccagt tgtaaagtaa
Feature /change: gaaatgtact ttcagattaa agaatgcatt taaagaagaa
Feature /change: atgcaaactt ttttctaaaa cccaggaaat aaaatgcttt
Feature /change: atttcaaaac atgtaggaca tggctaaagt tataaagatc
Feature /change: accattttta aagtataggg atataaaata aaagaaaaac
Feature /change: gaatcaaaac agaagaggga tcaatgctga ttttgtaaaa
Feature /change: tagaatacaa aaaatatata tgagttgaaa agtacatgtt
Feature /change: aaatctggtc ttttggaaag aaaataaaac aaaattccct
Feature /change: tctaattatt atgaagcaga gagaggtaac aaaagtagac
Feature /change: aaatctggaa tatgataata aaagaaatta aaatacaaga
Feature /change: aagctgtatg gaattctaca gcacacattt gaacttaagg
Feature /change: agaatgaaaa gctgataatt agttgttact gctcatctaa
Feature /change: cgtatctgag gaaactgaag tgcttgaagg tgggacaagc
Feature /change: aaggaagaat caaaacaatt tgttgtgcag aaccctcaaa
Feature /change: atggtcaacc acaagttacc ccaggagaag gtgatgaggg
Feature /change: atgtagcaga cataacttca aagtcaggaa agaagaatga
Feature /change: ttgaatcccc agaatctctc tgttccagtc aggagagctg
Feature /change: tttatacaag aacaatggcc atgtggaaat aaaagcagtg
Feature /change: ttttattaat ccgaccaagt acctgataac tcctaaacgt
Feature /change: aggcaagtga ttttaaaatg tgagccttaa aataagagcc
Feature /change: ttaaatgaga cttctgtcct cctgaatctc tacctatttc
Feature /change: accatcaaac ccaggagtgt cattctaaaa cactgcaatt
Feature /change: ttaggaaaag ccagtctgtc caatatctaa ggacaatggg
Feature /change: tcaatattga gcatgttttc cttcagtgcc tgagccactt
Feature /change: tattagggca gaatcctggg tccatctttc ttctggaagg
Feature /change: agagagaaca gaagtgatag caagacctct tcccacctgg
Feature /change: ccaccttacc tatccttaaa agaagaggtg aaagaagtgg
Feature /change: gaaaatgtcc cactatacac gggtgtggga acaggcaaga
Feature /change: ggatggcctg ggtctgccct gaaaatctgg ctcttgggga
Feature /change: aatggcagga ggcactaagg gagccattgc acaatgtggc
Feature /change: agacaaacag aggatgaagg aataatcctt catctgatta
Feature /change: ataagtaaat atgaccccag tgaggtgaag ttaattgcct
Feature /change: ccttgatgta acaccatcag tgtgggatca gaaccggtct
Feature /change: caacagcttg ctgaccagta ttcttcctag tttaccacac
Feature /change: tcattttgtc gctacccagt gatccagtat gaattttgga
Feature /change: ttcagatttg gagttctgat cctagttcca ccactaacca
Feature /change: gctgtgagat gtgggcaagt ttcttaactc atttgttacc
Feature /change: tagtttcctc atatgtctag tgcagatcat agtagagcat
Feature /change: acttcatagg gctttggcga tgaatgactg agaaaatacg
Feature /change: taaagctctc aaaaacagtg catggcacat ggtaagagct
Feature /change: caatagatat tagctatgta atttgtttta aaaagagaac
Feature /change: atagatttta tcatattgag ggctttgttt taattggtta
Feature /change: tttagtaata attgaaaata taaaaactaa agtttaaatg
Feature /change: tattttacat tttgaattcg gtcaaatcaa atagatttat
Feature /change: gtctgtaata cagtcaactt acatgttctg attgtgagta
Feature /change: ttctgtcctt tggcgtatcc ttcatttatg ataaatactg
Feature /change: gttttggagt tcttctagaa taaaatgcat actatcagct
Feature /change: ggcatggtgg ctcatgcctg taatcccaga actttgggag
Feature /change: gctgaggcgg gaggattgct tgagcccagg agtttgaggt
Feature /change: tgtagtgagc aatgattgca ccaccgcact ccagcctgga
Feature /change: tgacagagta agaccctgtc tttaaaaaac aacaacaaca
Feature /change: acaaaacaac ccatactacc tgtggattgc tctgacagga
Feature /change: tttcacataa tgtttaatgg gacagatggg atttcatatc
Feature /change: ttaacaactg aaagatgtta ttctgtaaaa actgagtaat
Feature /change: attgaaatag cactttgtat ccttgttgcc cagatgcctc
Feature /change: acaggatgcc tgccatttca caagttaccc accctttctc
Feature /change: tggcacccca ttgtaattca ggcttaggct ttaatgcata
Feature /change: ttgagtccag atacagagta ttagatctga tttgctgttg
Feature /change: gtatgcagtt tgcttagatg tctactgatt ttgcctttga
Feature /change: caaatttaaa taaatgaaat tgatgttttt gtagggttta
Feature /change: ctttggactg ttgcactgtg cagtgggctg gtgttgaaac
Feature /change: acaatagctt ttaaattgaa ctgcttacag agtgatctgc
Feature /change: aaaatctttc tagatgtctt tctatagctg ctgtggtgag
Feature /change: ctaggaatca ttatttgttt ttgctggcaa attaatgggt
Feature /change: tgtggtggcc gtggaaactg ccttctagta caaggtttga
Feature /change: aaagtgcatt taatcacttt ctcagggcat ttagaataaa
Feature /change: gaatcaggca aagtcattta caatccaatt tgtctttgag
Feature /change: aatattgaaa agcagagctt cataatgaaa gtattatatc
Feature /change: atatgtatga ctctgtgtgt gtgtctgtac ctgtgtctgt
Feature /change: gtctgtgtgt gtattattag tttggtttta tttcagtgtt
Feature /change: cctatttatt ttgtggttaa aaagaccatg gggaacaaaa
Feature /change: agtgactaat ttacttttct tttttttttg agacagagtc
Feature /change: tcgctctgtc acccaggctg gagtgcagtg gcacaatctt
Feature /change: agctcactgc aacctctgcc tcctgagttc aagtgattct
Feature /change: tttaccttag cctcccaagt agctggaatt acaggagtgt
Feature /change: gccaggctaa ttttgtatat ttagtagaga cagggtatca
Feature /change: ccatgttggc caggctggtc tcaaactcct gtcctcaagt
Feature /change: gatccacccg cctcagcctc ccaaagtgct gggattttag
Feature /change: gcatgagcca ctgtgcctgg cctctaaaaa gtgactaatt
Feature /change: ttcttacttg cctttttttc aggtgcttca aatctttgaa
Feature /change: agtagtggct gtgaattcat agtgtcaatg gtgtataaat
Feature /change: gagagtcctg ttgcttaatg ggaagagaaa gggaaagctg
Feature /change: gaatccaaaa atcttagtat tctgatccca tccacctgct
Feature /change: caaaaatgtt gtctttgtca gtttcctaag ctttgtaata
Feature /change: caatgccatc accaaaagtt tggtatattt atattgatat
Feature /change: tatttcttgt ggtgaagttt tctaagtttt aaaaattctt
Feature /change: ggggatttta ttagctcagt tctagaaaac tacaaatctt
Feature /change: attctcacca ccatcttgag atttttattg tgagcattgt
Feature /change: gatttattga tttttaattt tttcaaagag ttgtatttta
Feature /change: aatatatgta tcgtgagtgt ttacagtatt ccaatatttt
Feature /change: aattttaatt ttagtatatt catgaatata aacaatctct
Feature /change: ttaaacatta cttgtttttg ggatcgtctt tttaattgca
Feature /change: aaagattgtt accagaagaa aattacttaa aatgggataa
Feature /change: tagattatgg tatgtcatag aattctgatt tttatactag
Feature /change: caatatataa taaaatattt aagaaaaata aatctagcat
Feature /change: aactgaaatt tgaagttgca catatattct tatttagaac
Feature /change: tacctttcat tatggcaggc aacttgaatt cctctatact
Feature /change: ggaaaattta atgtaccact caattactat tctttagccc
Feature /change: aatttaaaat aatagattgg gagtaaggtc ttaatgcagt
Feature /change: gtaacctttg gaacgttaga aataacctct tttctttcca
Feature /change: gaaatcagta tgcagtaagg gcatcagttt tatcacactg
Feature /change: catgaataga tttttaatag cacttagacc tttttctaat
Feature /change: tgcacaagta tatggatttc ttgtgtctca ccaaacatgc
Feature /change: taaataataa tttaaagaca tgctgttaca ctgttttaaa
Feature /change: atatatacct ttttatttaa aagctttttt gatcatctca
Feature /change: ttctgattct agtgaaggac tcaatattgt aacttaatat
Feature /change: ttttatataa tttcataatg tgggtgtttt gaaagatttt
Feature /change: gcaatggtag atattgtgat aaaattttag ctatggaaag
Feature /change: gtccttattc tcactttttt ctttaacaat cctactatgt
Feature /change: atagccatga aactacagaa aatattagga ctttgagaaa
Feature /change: ttgtaaaagg acttcataaa aagaacatta tctttcctcg
Feature /change: tgatgccacc ttttaatgat agctgtcagc cttttcactt
Feature /change: attataaaaa acaaattttc tgtgcgaggt gaaaatgttc
Feature /change: actgaaatga atttacacac cctctcaaat tccttttgga
Feature /change: ataggggagg atgcaaataa gcaaatagta ataaaactaa
Feature /change: tttgcatact ctaaattgtt ggtcttaatg gtactgatgg
Feature /change: aaggtttcca atttgtcaca aagcagtgac ttttaagaac
Feature /change: ataaattata ttgaaatgca gtttatttaa aaatatagtg
Feature /change: ccaaaatgca atattggaca aatttatccc tgtttctttt
Feature /change: gttgaccaaa taatagactg ggattcatga ttttataagc
Feature /change: agaccttgat gatcttatca gtttgatata tttccagtgt
Feature /change: tgtagatgct aatacataaa gagcaaaaac agttttgatt
Feature /change: tggaatcata gtacctaatt gatctgtttc tttttctgta
Feature /change: ttatctgtgg gttctcaaat gggctttgtg gaccacctgt
Feature /change: ctcaggagtc atctgtgatg ctttttaaat taaaacatag
Feature /change: atttctgggc cccaccacag aaatactatt ttggagctga
Feature /change: tcccaggacc tgtcttttta gtaagaaccc tggatgattt
Feature /change: ttgtgggcat tgaggtttgg gaactgctgt tctagagcag
Feature /change: gggtcagcaa accatttcta taaattgcta gacagtcaat
Feature /change: atttttggct ttgaggacca tatggtcttc actgtaacta
Feature /change: tttctgccat tatagcacaa aagcagcaac agataatgga
Feature /change: gaaacaaata ggtatgggca gctagactgg cttctagaat
Feature /change: ttgttcgtct ctgatagaat ctagattcta gaccatcggt
Feature /change: ttttgctgta tgaatatttt ctaagatatt ctcttcgaaa
Feature /change: tcaattttaa tgagatttcc tatgtgttta ttttttgata
Feature /change: actgacgaaa attcataaat acaggattaa ttcctagata
Feature /change: tacattaaat taattaatag ctgtaaaact tttgtaatag
Feature /change: ttaaaacctt ttctatgtta atattagagt atgattaact
Feature /change: tacttctaac tatgtaatct gcttctcata ttaggttcct
Feature /change: gttgctagag caagtattct ttggctaatt ggagaaaact
Feature /change: gtgaacgagt tcctaaaatt gcccctgatg ttttgaggaa
Feature /change: gatggctaaa agcttcacta gtgaagatga tctggtaaaa
Feature /change: ctgcagatat taaatctggg agcaaaattg tatttaacca
Feature /change: actccaaaca ggtgagaggc aaatgttagt caacctatct
Feature /change: aatacgtact ttcctcttca ctctgatcaa acagcggggg
Feature /change: tctgtgcctt cattagtctg accattcaac aatttctagg
Feature /change: tgcctgtttg tttcaggttc tatgttagat gatactagtg
Feature /change: caaacagatg acattctagt ctagtaagag agaaaacaga
Feature /change: ttaaaaaatg aaatagtgtg tgttaatgct gtagcagaag
Feature /change: tattgacata cagtggaatt ctagacgaat tataaagtct
Feature /change: gaagtcgatg tgaggtcaga gaaaatttta taaaggatga
Feature /change: aactcttgac taagggcttg taagagtggt ttactgtaca
Feature /change: gaaagaggaa agcacagggt cagagtcaag aaacagcttg
Feature /change: gtgtttctgg gaaacttttt gaaggtgagt ccagaatggc
Feature /change: aggtacaatg gtctgaaagt ttatatcccc caaagttcat
Feature /change: gtggtgaaac ctgatcaccc atgtgatggt attaggaggt
Feature /change: aggacctttg ggaggtgatt aggtcataag ggtggagcct
Feature /change: ttataaatga actttatgct cttagaaaag agatccctga
Feature /change: gagctagctt gctgcttctg ccatgtgagg acacagtgag
Feature /change: aaggtgctat ctgtaaatta gaaaatgggt gctcactaga
Feature /change: caccagaact gtgggtacct tgatcttgga tttcccagcc
Feature /change: tccagaactg tgagaaataa atttttatta ttaattatat
Feature /change: tattaatagg cttcccagtt tatggtattt tctaacagta
Feature /change: gcccaaatgg actaagacat tttgcagttt gaacgcatgg
Feature /change: agtggcttgt atgctctgct aagtagtatg gaccttgtcc
Feature /change: tgcagaggaa agggaaacca cttttaatag tagtataatt
Feature /change: taccagattt gc
Feature /genomic_region: intron; 14
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: inframe deletion
Feature /loc: IDRefSeq: C0103: 1566..1742
Feature /change: -gttcctgttg ctagagcaag tattctttgg ctaattggag
Feature /change: aaaactgtga acgagttcct aaaattgccc ctgatgtttt
Feature /change: gaggaagatg gctaaaagct tcactagtga agatgatctg
Feature /change: gtaaaactgc agatattaaa tctgggagca aaattgtatt
Feature /change: taaccaactc caaacag
Feature /note: skipping of exon 15
Feature /inexloc: -7074
Feature aa; 3
Feature /rnalink: 2
Feature /name: deletion; inframe
Feature /loc: UniProt: O00203; AP3B1_HUMAN: 492..550
Feature /change: -VPVARASILW LIGENCERVP KIAPDVLRKM AKSFTSEDDL
Feature /change: VKLQILNLGA KLYLTNSKQ
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0103: 147279..155450
Feature /change: -agttaatacc ttgtttacag gtaatggtag agaagtatgt
Feature /change: atctgattat gagaaggaac taggagttct gtatctcccc
Feature /change: agacttcttg tgcaaaattt agttaaaact tgtgctagta
Feature /change: aactcgttct ggtcctgttt agaaaggaag aggcaattat
Feature /change: aagtactagg gcttcaggag agtgcagctg ctatacataa
Feature /change: aacctgtaac agtgtatgag gcctgtatct ggcaaaccct
Feature /change: aggctttctt ggaagaaaac tttcttctat ttgagtatat
Feature /change: tcatgtccag ggatacagaa gatacttttg atgtgtaaac
Feature /change: tttctttttc tcgctcattc tctctctttc cctttttttt
Feature /change: tttaatggag tcttgctctg tcaccctggc tggagtgcag
Feature /change: tggcgcaatc tcatctcact gcaacctcca cctcccaggt
Feature /change: tcaagtgatt ctcctgcctc agcctctgag tagttgggat
Feature /change: tacaggcatg cgccaccgtg cctggataat ttttgtgttt
Feature /change: ttagtagaga tggggtttcc ccatgttgac cacgctggtc
Feature /change: tcaaactcct gacctcaggt gatctcaccc cagcctcccg
Feature /change: aagtgctggg attacaggcg tgagccatgg cacctggctg
Feature /change: atgcatcaac tttctcaaca gttgctggac tataagccaa
Feature /change: ataagtacag tcttacagct ctatatagca aagcttattt
Feature /change: ttttcagctt ttgtttttct cagaagataa ccattaatag
Feature /change: atacaaaaat atggtgagaa ttcagtattc acaaaggaaa
Feature /change: ataaaggaac aaatagcagt tttacaaagc cagaaaaaaa
Feature /change: ataagaaaga aagaaaacaa atgtaaaata aataataagt
Feature /change: atttaaaagt aataaagatg gaagaaataa aatcaaatat
Feature /change: ttctcatctt gaatatgaat ggactgaatt ttctcatcaa
Feature /change: aagacagact tacaaattgg aataaaaaca aaaactagct
Feature /change: acaggccatt tatagttaaa gcaccttaat caagtgataa
Feature /change: aagttgaaaa taagaaggta aggaaagaga tattaagcaa
Feature /change: atatgaacaa gaaagtgaga tttacagtta attaaaagca
Feature /change: tttaacaaga taaaaaggaa cattataaaa tgaaaaaagg
Feature /change: gtaatttgta aagaaagtaa taagcacaaa cctatttgca
Feature /change: caaaaaatat ggcaaccaaa taaatatgta aaggaaaaat
Feature /change: ctattcaaaa tgtgaggaga aattgataaa atagttacaa
Feature /change: tgtgtgactg taatgtattt ctctcatatt agatatttct
Feature /change: agtagacaga tataagtaag aaaattaagt aatcaaaaac
Feature /change: ttatttagta aatatagcta aaaccttata tctcttgaac
Feature /change: agataatacc cacttttagg agtatatcca gtgaatattt
Feature /change: tcaaaaaatc aagaatgtat ttaggcataa aggaagctta
Feature /change: aagattttgc attctttgac cttaagcaat gaaatgagac
Feature /change: ttaaataatt taaaagggta ccagaccagt tgtaaagtaa
Feature /change: gaaatgtact ttcagattaa agaatgcatt taaagaagaa
Feature /change: atgcaaactt ttttctaaaa cccaggaaat aaaatgcttt
Feature /change: atttcaaaac atgtaggaca tggctaaagt tataaagatc
Feature /change: accattttta aagtataggg atataaaata aaagaaaaac
Feature /change: gaatcaaaac agaagaggga tcaatgctga ttttgtaaaa
Feature /change: tagaatacaa aaaatatata tgagttgaaa agtacatgtt
Feature /change: aaatctggtc ttttggaaag aaaataaaac aaaattccct
Feature /change: tctaattatt atgaagcaga gagaggtaac aaaagtagac
Feature /change: aaatctggaa tatgataata aaagaaatta aaatacaaga
Feature /change: aagctgtatg gaattctaca gcacacattt gaacttaagg
Feature /change: agaatgaaaa gctgataatt agttgttact gctcatctaa
Feature /change: cgtatctgag gaaactgaag tgcttgaagg tgggacaagc
Feature /change: aaggaagaat caaaacaatt tgttgtgcag aaccctcaaa
Feature /change: atggtcaacc acaagttacc ccaggagaag gtgatgaggg
Feature /change: atgtagcaga cataacttca aagtcaggaa agaagaatga
Feature /change: ttgaatcccc agaatctctc tgttccagtc aggagagctg
Feature /change: tttatacaag aacaatggcc atgtggaaat aaaagcagtg
Feature /change: ttttattaat ccgaccaagt acctgataac tcctaaacgt
Feature /change: aggcaagtga ttttaaaatg tgagccttaa aataagagcc
Feature /change: ttaaatgaga cttctgtcct cctgaatctc tacctatttc
Feature /change: accatcaaac ccaggagtgt cattctaaaa cactgcaatt
Feature /change: ttaggaaaag ccagtctgtc caatatctaa ggacaatggg
Feature /change: tcaatattga gcatgttttc cttcagtgcc tgagccactt
Feature /change: tattagggca gaatcctggg tccatctttc ttctggaagg
Feature /change: agagagaaca gaagtgatag caagacctct tcccacctgg
Feature /change: ccaccttacc tatccttaaa agaagaggtg aaagaagtgg
Feature /change: gaaaatgtcc cactatacac gggtgtggga acaggcaaga
Feature /change: ggatggcctg ggtctgccct gaaaatctgg ctcttgggga
Feature /change: aatggcagga ggcactaagg gagccattgc acaatgtggc
Feature /change: agacaaacag aggatgaagg aataatcctt catctgatta
Feature /change: ataagtaaat atgaccccag tgaggtgaag ttaattgcct
Feature /change: ccttgatgta acaccatcag tgtgggatca gaaccggtct
Feature /change: caacagcttg ctgaccagta ttcttcctag tttaccacac
Feature /change: tcattttgtc gctacccagt gatccagtat gaattttgga
Feature /change: ttcagatttg gagttctgat cctagttcca ccactaacca
Feature /change: gctgtgagat gtgggcaagt ttcttaactc atttgttacc
Feature /change: tagtttcctc atatgtctag tgcagatcat agtagagcat
Feature /change: acttcatagg gctttggcga tgaatgactg agaaaatacg
Feature /change: taaagctctc aaaaacagtg catggcacat ggtaagagct
Feature /change: caatagatat tagctatgta atttgtttta aaaagagaac
Feature /change: atagatttta tcatattgag ggctttgttt taattggtta
Feature /change: tttagtaata attgaaaata taaaaactaa agtttaaatg
Feature /change: tattttacat tttgaattcg gtcaaatcaa atagatttat
Feature /change: gtctgtaata cagtcaactt acatgttctg attgtgagta
Feature /change: ttctgtcctt tggcgtatcc ttcatttatg ataaatactg
Feature /change: gttttggagt tcttctagaa taaaatgcat actatcagct
Feature /change: ggcatggtgg ctcatgcctg taatcccaga actttgggag
Feature /change: gctgaggcgg gaggattgct tgagcccagg agtttgaggt
Feature /change: tgtagtgagc aatgattgca ccaccgcact ccagcctgga
Feature /change: tgacagagta agaccctgtc tttaaaaaac aacaacaaca
Feature /change: acaaaacaac ccatactacc tgtggattgc tctgacagga
Feature /change: tttcacataa tgtttaatgg gacagatggg atttcatatc
Feature /change: ttaacaactg aaagatgtta ttctgtaaaa actgagtaat
Feature /change: attgaaatag cactttgtat ccttgttgcc cagatgcctc
Feature /change: acaggatgcc tgccatttca caagttaccc accctttctc
Feature /change: tggcacccca ttgtaattca ggcttaggct ttaatgcata
Feature /change: ttgagtccag atacagagta ttagatctga tttgctgttg
Feature /change: gtatgcagtt tgcttagatg tctactgatt ttgcctttga
Feature /change: caaatttaaa taaatgaaat tgatgttttt gtagggttta
Feature /change: ctttggactg ttgcactgtg cagtgggctg gtgttgaaac
Feature /change: acaatagctt ttaaattgaa ctgcttacag agtgatctgc
Feature /change: aaaatctttc tagatgtctt tctatagctg ctgtggtgag
Feature /change: ctaggaatca ttatttgttt ttgctggcaa attaatgggt
Feature /change: tgtggtggcc gtggaaactg ccttctagta caaggtttga
Feature /change: aaagtgcatt taatcacttt ctcagggcat ttagaataaa
Feature /change: gaatcaggca aagtcattta caatccaatt tgtctttgag
Feature /change: aatattgaaa agcagagctt cataatgaaa gtattatatc
Feature /change: atatgtatga ctctgtgtgt gtgtctgtac ctgtgtctgt
Feature /change: gtctgtgtgt gtattattag tttggtttta tttcagtgtt
Feature /change: cctatttatt ttgtggttaa aaagaccatg gggaacaaaa
Feature /change: agtgactaat ttacttttct tttttttttg agacagagtc
Feature /change: tcgctctgtc acccaggctg gagtgcagtg gcacaatctt
Feature /change: agctcactgc aacctctgcc tcctgagttc aagtgattct
Feature /change: tttaccttag cctcccaagt agctggaatt acaggagtgt
Feature /change: gccaggctaa ttttgtatat ttagtagaga cagggtatca
Feature /change: ccatgttggc caggctggtc tcaaactcct gtcctcaagt
Feature /change: gatccacccg cctcagcctc ccaaagtgct gggattttag
Feature /change: gcatgagcca ctgtgcctgg cctctaaaaa gtgactaatt
Feature /change: ttcttacttg cctttttttc aggtgcttca aatctttgaa
Feature /change: agtagtggct gtgaattcat agtgtcaatg gtgtataaat
Feature /change: gagagtcctg ttgcttaatg ggaagagaaa gggaaagctg
Feature /change: gaatccaaaa atcttagtat tctgatccca tccacctgct
Feature /change: caaaaatgtt gtctttgtca gtttcctaag ctttgtaata
Feature /change: caatgccatc accaaaagtt tggtatattt atattgatat
Feature /change: tatttcttgt ggtgaagttt tctaagtttt aaaaattctt
Feature /change: ggggatttta ttagctcagt tctagaaaac tacaaatctt
Feature /change: attctcacca ccatcttgag atttttattg tgagcattgt
Feature /change: gatttattga tttttaattt tttcaaagag ttgtatttta
Feature /change: aatatatgta tcgtgagtgt ttacagtatt ccaatatttt
Feature /change: aattttaatt ttagtatatt catgaatata aacaatctct
Feature /change: ttaaacatta cttgtttttg ggatcgtctt tttaattgca
Feature /change: aaagattgtt accagaagaa aattacttaa aatgggataa
Feature /change: tagattatgg tatgtcatag aattctgatt tttatactag
Feature /change: caatatataa taaaatattt aagaaaaata aatctagcat
Feature /change: aactgaaatt tgaagttgca catatattct tatttagaac
Feature /change: tacctttcat tatggcaggc aacttgaatt cctctatact
Feature /change: ggaaaattta atgtaccact caattactat tctttagccc
Feature /change: aatttaaaat aatagattgg gagtaaggtc ttaatgcagt
Feature /change: gtaacctttg gaacgttaga aataacctct tttctttcca
Feature /change: gaaatcagta tgcagtaagg gcatcagttt tatcacactg
Feature /change: catgaataga tttttaatag cacttagacc tttttctaat
Feature /change: tgcacaagta tatggatttc ttgtgtctca ccaaacatgc
Feature /change: taaataataa tttaaagaca tgctgttaca ctgttttaaa
Feature /change: atatatacct ttttatttaa aagctttttt gatcatctca
Feature /change: ttctgattct agtgaaggac tcaatattgt aacttaatat
Feature /change: ttttatataa tttcataatg tgggtgtttt gaaagatttt
Feature /change: gcaatggtag atattgtgat aaaattttag ctatggaaag
Feature /change: gtccttattc tcactttttt ctttaacaat cctactatgt
Feature /change: atagccatga aactacagaa aatattagga ctttgagaaa
Feature /change: ttgtaaaagg acttcataaa aagaacatta tctttcctcg
Feature /change: tgatgccacc ttttaatgat agctgtcagc cttttcactt
Feature /change: attataaaaa acaaattttc tgtgcgaggt gaaaatgttc
Feature /change: actgaaatga atttacacac cctctcaaat tccttttgga
Feature /change: ataggggagg atgcaaataa gcaaatagta ataaaactaa
Feature /change: tttgcatact ctaaattgtt ggtcttaatg gtactgatgg
Feature /change: aaggtttcca atttgtcaca aagcagtgac ttttaagaac
Feature /change: ataaattata ttgaaatgca gtttatttaa aaatatagtg
Feature /change: ccaaaatgca atattggaca aatttatccc tgtttctttt
Feature /change: gttgaccaaa taatagactg ggattcatga ttttataagc
Feature /change: agaccttgat gatcttatca gtttgatata tttccagtgt
Feature /change: tgtagatgct aatacataaa gagcaaaaac agttttgatt
Feature /change: tggaatcata gtacctaatt gatctgtttc tttttctgta
Feature /change: ttatctgtgg gttctcaaat gggctttgtg gaccacctgt
Feature /change: ctcaggagtc atctgtgatg ctttttaaat taaaacatag
Feature /change: atttctgggc cccaccacag aaatactatt ttggagctga
Feature /change: tcccaggacc tgtcttttta gtaagaaccc tggatgattt
Feature /change: ttgtgggcat tgaggtttgg gaactgctgt tctagagcag
Feature /change: gggtcagcaa accatttcta taaattgcta gacagtcaat
Feature /change: atttttggct ttgaggacca tatggtcttc actgtaacta
Feature /change: tttctgccat tatagcacaa aagcagcaac agataatgga
Feature /change: gaaacaaata ggtatgggca gctagactgg cttctagaat
Feature /change: ttgttcgtct ctgatagaat ctagattcta gaccatcggt
Feature /change: ttttgctgta tgaatatttt ctaagatatt ctcttcgaaa
Feature /change: tcaattttaa tgagatttcc tatgtgttta ttttttgata
Feature /change: actgacgaaa attcataaat acaggattaa ttcctagata
Feature /change: tacattaaat taattaatag ctgtaaaact tttgtaatag
Feature /change: ttaaaacctt ttctatgtta atattagagt atgattaact
Feature /change: tacttctaac tatgtaatct gcttctcata ttaggttcct
Feature /change: gttgctagag caagtattct ttggctaatt ggagaaaact
Feature /change: gtgaacgagt tcctaaaatt gcccctgatg ttttgaggaa
Feature /change: gatggctaaa agcttcacta gtgaagatga tctggtaaaa
Feature /change: ctgcagatat taaatctggg agcaaaattg tatttaacca
Feature /change: actccaaaca ggtgagaggc aaatgttagt caacctatct
Feature /change: aatacgtact ttcctcttca ctctgatcaa acagcggggg
Feature /change: tctgtgcctt cattagtctg accattcaac aatttctagg
Feature /change: tgcctgtttg tttcaggttc tatgttagat gatactagtg
Feature /change: caaacagatg acattctagt ctagtaagag agaaaacaga
Feature /change: ttaaaaaatg aaatagtgtg tgttaatgct gtagcagaag
Feature /change: tattgacata cagtggaatt ctagacgaat tataaagtct
Feature /change: gaagtcgatg tgaggtcaga gaaaatttta taaaggatga
Feature /change: aactcttgac taagggcttg taagagtggt ttactgtaca
Feature /change: gaaagaggaa agcacagggt cagagtcaag aaacagcttg
Feature /change: gtgtttctgg gaaacttttt gaaggtgagt ccagaatggc
Feature /change: aggtacaatg gtctgaaagt ttatatcccc caaagttcat
Feature /change: gtggtgaaac ctgatcaccc atgtgatggt attaggaggt
Feature /change: aggacctttg ggaggtgatt aggtcataag ggtggagcct
Feature /change: ttataaatga actttatgct cttagaaaag agatccctga
Feature /change: gagctagctt gctgcttctg ccatgtgagg acacagtgag
Feature /change: aaggtgctat ctgtaaatta gaaaatgggt gctcactaga
Feature /change: caccagaact gtgggtacct tgatcttgga tttcccagcc
Feature /change: tccagaactg tgagaaataa atttttatta ttaattatat
Feature /change: tattaatagg cttcccagtt tatggtattt tctaacagta
Feature /change: gcccaaatgg actaagacat tttgcagttt gaacgcatgg
Feature /change: agtggcttgt atgctctgct aagtagtatg gaccttgtcc
Feature /change: tgcagaggaa agggaaacca cttttaatag tagtataatt
Feature /change: taccagattt gc
Feature /genomic_region: intron; 14
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: inframe deletion
Feature /loc: IDRefSeq: C0103: 1566..1742
Feature /change: -gttcctgttg ctagagcaag tattctttgg ctaattggag
Feature /change: aaaactgtga acgagttcct aaaattgccc ctgatgtttt
Feature /change: gaggaagatg gctaaaagct tcactagtga agatgatctg
Feature /change: gtaaaactgc agatattaaa tctgggagca aaattgtatt
Feature /change: taaccaactc caaacag
Feature /note: skipping of exon 15
Feature /inexloc: -7074
Feature aa; 3
Feature /rnalink: 2
Feature /name: deletion; inframe
Feature /loc: UniProt: O00203; AP3B1_HUMAN: 492..550
Feature /change: -VPVARASILW LIGENCERVP KIAPDVLRKM AKSFTSEDDL
Feature /change: VKLQILNLGA KLYLTNSKQ
Symptoms Infections:
Symptoms Pneumonia;
Symptoms Mental retardation
Symptoms Physical findings:
Symptoms Neutropenia
Symptoms Others:
Symptoms coarse facial features, hypopigmentation, splenomegaly,
Symptoms thrombocytopenia, severe dental decay and aggressive
Symptoms periodontitis
Sex XY
Ethnic origin Caucasoid; Turkey
Parents Consanguineous
Relative AP3B1base; A0005 cousin
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