Database TMC8base
Version 1.1
File tmc8pub.html
Date 21-Aug-2008
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/TMC8base/
IDR factfile http://structure.bmc.lu.se/idbase/IDRefSeq/xml/idr/ff/FF115.html
Gene TMC8
Disease Epidermodysplasia verruciformis
OMIM 605829
Sequence IDRefSeq:D0031; IDRefSeq:C0031; UniProt:Q8IU68
Numbering start of the entry
Funding Tampere University Hospital Medical Research Fund
Funding European Union
Comments previously known as EVER2base
Comments sequence entry reference in every entry
//
ID W63X(1a),W63X(1a); standard; MUTATION;
Accession E0006
Systematic name Allele 1 and 2: g.2133G>A, c.188G>A, r.188g>a, p.Trp63X
Original code P3
Description Allele 1 and 2: A point mutation in the exon 3 leading to a
Description premature stop codon
Date 31-Aug-2007 (Rel. 1, Created)
Date 31-Aug-2007 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17711520
RefAuthors Rady, P. L., De Oliveira, W. R., He, Q., Festa, C.,
RefAuthors Rivitti, E. A., Tucker, S. B., Tyring, S. K.
RefTitle Novel homozygous nonsense TMC8 mutation detected in
RefTitle patients with epidermodysplasia verruciformis from a
RefTitle brazilian family.
RefLoc Br J Dermatol (2007)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0031: 2133
Feature /change: g -> a
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0031; GI:25527191; TMC8C: 560
Feature /codon: tgg -> tag; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISS-PROT: Q8IU68: 63
Feature /change: W -> X
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0031: 2133
Feature /change: g -> a
Feature /genomic_region: exon; 3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0031; GI:25527191; TMC8C: 560
Feature /codon: tgg -> tag; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: SWISS-PROT: Q8IU68: 63
Feature /change: W -> X
Symptoms Flat warts, PV-like lesions, actinic keratoses and skin
Symptoms cancer
Sex XX
Ethnic origin Caucasoid; Brazil
Parents Consanguineous
Relative TMC8base; E0007 sister
Relative TMC8base; E0008 brother
//
ID W63X(1b),W63X(1b); standard; MUTATION;
Accession E0007
Systematic name Allele 1 and 2: g.2133G>A, c.188G>A, r.188g>a, p.Trp63X
Original code P1
Description Allele 1 and 2: A point mutation in the exon 3 leading to a
Description premature stop codon
Date 31-Aug-2007 (Rel. 1, Created)
Date 31-Aug-2007 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17711520
RefAuthors Rady, P. L., De Oliveira, W. R., He, Q., Festa, C.,
RefAuthors Rivitti, E. A., Tucker, S. B., Tyring, S. K.
RefTitle Novel homozygous nonsense TMC8 mutation detected in
RefTitle patients with epidermodysplasia verruciformis from a
RefTitle brazilian family.
RefLoc Br J Dermatol (2007)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0031: 2133
Feature /change: g -> a
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0031; GI:25527191; TMC8C: 560
Feature /codon: tgg -> tag; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISS-PROT: Q8IU68: 63
Feature /change: W -> X
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0031: 2133
Feature /change: g -> a
Feature /genomic_region: exon; 3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0031; GI:25527191; TMC8C: 560
Feature /codon: tgg -> tag; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: SWISS-PROT: Q8IU68: 63
Feature /change: W -> X
Symptoms Flat warts, PV-like lesions, actinic keratoses and skin
Symptoms cancer
Sex XX
Ethnic origin Caucasoid; Brazil
Parents Consanguineous
Relative TMC8base; E0006 sister
Relative TMC8base; E0008 brother
//
ID W63X(1c),W63X(1c); standard; MUTATION;
Accession E0008
Systematic name Allele 1 and 2: g.2133G>A, c.188G>A, r.188g>a, p.Trp63X
Original code P2
Description Allele 1 and 2: A point mutation in the exon 3 leading to a
Description premature stop codon
Date 31-Aug-2007 (Rel. 1, Created)
Date 31-Aug-2007 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17711520
RefAuthors Rady, P. L., De Oliveira, W. R., He, Q., Festa, C.,
RefAuthors Rivitti, E. A., Tucker, S. B., Tyring, S. K.
RefTitle Novel homozygous nonsense TMC8 mutation detected in
RefTitle patients with epidermodysplasia verruciformis from a
RefTitle brazilian family.
RefLoc Br J Dermatol (2007)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0031: 2133
Feature /change: g -> a
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0031; GI:25527191; TMC8C: 560
Feature /codon: tgg -> tag; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISS-PROT: Q8IU68: 63
Feature /change: W -> X
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0031: 2133
Feature /change: g -> a
Feature /genomic_region: exon; 3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0031; GI:25527191; TMC8C: 560
Feature /codon: tgg -> tag; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: SWISS-PROT: Q8IU68: 63
Feature /change: W -> X
Symptoms Flat warts, PV-like lesions, actinic keratoses and skin
Symptoms cancer
Sex XY
Ethnic origin Caucasoid; Brazil
Parents Consanguineous
Relative TMC8base; E0006 sister
Relative TMC8base; E0007 sister
//
ID #G187X218(1),#G187X218(1); standard; MUTATION;
Accession E0011
Systematic name Allele 1 and 2: g.3648_3669delGCGTACCGAGTGGGGCCGGAGA,
Systematic name c.561_582delGCGTACCGAGTGGGGCCGGAGA,
Systematic name r.561_582delgcguaccgaguggggccggaga, p.Tyr189fsX30
Original code patient
Description Allele 1 and 2: A frame shift deletion mutation in the exon
Description 6 leading to a premature stop codon
Date 28-May-2008 (Rel. 1, Created)
Date 28-May-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17368633
RefAuthors Berthelot, C., Dickerson, M. C., Rady, P., He, Q.,
RefAuthors Niroomand, F., Tyring, S. K., Pandya, A. G.
RefTitle Treatment of a patient with epidermodysplasia
RefTitle verruciformis carrying a novel EVER2 mutation with
RefTitle imiquimod.
RefLoc J Am Acad Dermatol:882-886 (2007)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0031: 3648..3669
Feature /change: -tgcgtaccga gtggggccgg ag
Feature /genomic_region: exon; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0031; GI:25527191; TMC8C: 933..954
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISS-PROT: Q8IU68: 187..194
Feature /change: GAYRVGPE -> GAAPCTASAW PTSSARWPAC SSASVGLCGG WX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0031: 3648..3669
Feature /change: -tgcgtaccga gtggggccgg ag
Feature /genomic_region: exon; 6
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0031; GI:25527191; TMC8C: 933..954
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: SWISS-PROT: Q8IU68: 187..194
Feature /change: GAYRVGPE -> GAAPCTASAW PTSSARWPAC SSASVGLCGG WX
Symptoms Multiple human papillomavirus infections
Age 12
Sex XY
Ethnic origin Caucasoid; USA
//
ID #G187X258(1),#G187X258(1); standard; MUTATION;
Accession E0009
Systematic name Allele 1 and 2: g.3648_3670delTGCGTACCGAGTGGGGCCGGAGA,
Systematic name c.561_583delTGCGTACCGAGTGGGGCCGGAGA,
Systematic name r.561_583delugcguaccgaguggggccggaga, p.Ala188fsX71
Original code 22-year-old Hispanic man
Description Allele 1 and 2: A frame shift deletion mutation in the exon
Description 6 leading to a premature stop codon
Date 31-Aug-2007 (Rel. 1, Created)
Date 31-Aug-2007 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17368633
RefAuthors Berthelot, C., Dickerson, M. C., Rady, P., He, Q.,
RefAuthors Niroomand, F., Tyring, S. K., Pandya, A. G.
RefTitle Treatment of a patient with epidermodysplasia
RefTitle verruciformis carrying a novel EVER2 mutation with
RefTitle imiquimod.
RefLoc J Am Acad Dermatol:882-886 (2007)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0031: 3648..3670
Feature /change: -tgcgtaccga gtggggccgg aga
Feature /genomic_region: exon; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0031; GI:25527191; TMC8C: 933..955
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISS-PROT: Q8IU68: 187..195
Feature /change: GAYRVGPES ->
Feature /change: GQLRVQHPPG LPPQPAGLPA PLLLWDSAAD GEGAAAEDSA
Feature /change: GSGLSGASQR QGLLLMGLLH PGAGSSHHQE AX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0031: 3648..3670
Feature /change: -tgcgtaccga gtggggccgg aga
Feature /genomic_region: exon; 6
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0031; GI:25527191; TMC8C: 933..955
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: SWISS-PROT: Q8IU68: 187..195
Feature /change: GAYRVGPES ->
Feature /change: GQLRVQHPPG LPPQPAGLPA PLLLWDSAAD GEGAAAEDSA
Feature /change: GSGLSGASQR QGLLLMGLLH PGAGSSHHQE AX
Symptoms 10-year history of flat warts on the face, chest, and
Symptoms extremities and a 6-months history of a rapidly growing
Symptoms mass on the mid upper aspect of his chest
Age 22
Sex XY
Ethnic origin Caucasoid; Hispanic
//
ID R190X(1),R190X(1); standard; MUTATION;
Accession E0010
Systematic name Allele 1 and 2: g.3655C>T, c.568C>T, r.568c>u, p.Arg190X
Original code 24-year-old man
Description Allele 1 and 2: A point mutation in the exon 6 leading to a
Description premature stop codon
Date 03-Sep-2007 (Rel. 1, Created)
Date 03-Sep-2007 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 16045695
RefAuthors Sun, X. K., Chen, J. F., Xu, A. E.
RefTitle A homozygous nonsense mutation in the EVER2 gene leads to
RefTitle epidermodysplasia verruciformis.
RefLoc Clin Exp Dermatol:573-574 (2005)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0031: 3655
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0031; GI:25527191; TMC8C: 940
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISS-PROT: Q8IU68: 190
Feature /change: R -> X
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0031: 3655
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 6
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0031; GI:25527191; TMC8C: 940
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: SWISS-PROT: Q8IU68: 190
Feature /change: R -> X
Age 24
Sex XY
Ethnic origin Mongoloid; China
Parents Consanguineous
//
ID #F252X283(1),#F252X283(1); standard; MUTATION;
Accession E0001
Systematic name Allele 1 and 2: g.4152delT, c.755delT, r.755delu,
Systematic name p.Phe252fsX32
Original code A3-IV-4
Description Allele 1 and 2: a frame shift deletion mutation in the exon
Description 7 leading to a premature stop codon
Date 04-Feb-2004 (Rel. 1, Created)
Date 04-Feb-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12426567
RefAuthors Ramoz, N., Rueda, L. A., Bouadjar, B., Montoya, L. S.,
RefAuthors Orth, G., Favre, M.
RefTitle Mutations in two adjacent novel genes are associated with
RefTitle epidermodysplasia verruciformis.
RefLoc Nat Genet 32:579-581 (2002)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0031: 4152
Feature /change: -t
Feature /genomic_region: exon; 7
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0031: 1127
Feature /note: the mutation may be as well 754delT
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q8IU68; TMC8_HUMAN: 252
Feature /change: F -> SASGCRKQPP SRSMRSATSS RWSWRRAVAS SX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0031: 4152
Feature /change: -t
Feature /genomic_region: exon; 7
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0031: 1127
Feature /note: the mutation may be as well 754delT
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q8IU68; TMC8_HUMAN: 252
Feature /change: F -> SASGCRKQPP SRSMRSATSS RWSWRRAVAS SX
Symptoms Persistent flat warts and pityriasis versicolor-like
Symptoms lesions disseminated on the face, neck, and limbs, which
Symptoms started at 8 years of age. He developed a basal cell
Symptoms carcinoma of the forehead and a squamous cell carcinoma of
Symptoms the left temple at 26 years age.
Age 8
Sex XY
Ethnic origin Algerian
Parents Consanguineous
//
ID E362X(1a),E362X(1a); standard; MUTATION;
Accession E0002
Systematic name Allele 1 and 2: g.5179G>T, c.1084G>T, r.1084g>u, p.Glu362X
Original code C2-IV-8
Description Allele 1 and 2: a point mutation in the exon 9 leading to a
Description premature stop codon
Date 04-Feb-2004 (Rel. 1, Created)
Date 04-Feb-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12426567
RefAuthors Ramoz, N., Rueda, L. A., Bouadjar, B., Montoya, L. S.,
RefAuthors Orth, G., Favre, M.
RefTitle Mutations in two adjacent novel genes are associated with
RefTitle epidermodysplasia verruciformis.
RefLoc Nat Genet 32:579-581 (2002)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0031: 5179
Feature /change: g -> t
Feature /genomic_region: exon; 9
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0031: 1456
Feature /codon: gag -> tag; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q8IU68; TMC8_HUMAN: 362
Feature /change: E -> X
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0031: 5179
Feature /change: g -> t
Feature /genomic_region: exon; 9
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0031: 1456
Feature /codon: gag -> tag; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q8IU68; TMC8_HUMAN: 362
Feature /change: E -> X
Sex XY
Ethnic origin Colombian
Parents Consanguineous
Relative TMC8base; E0003 cousin
Relative TMC8base; E0004 cousin
Relative TMC8base; E0005 cousin
//
ID E362X(1b),E362X(1b); standard; MUTATION;
Accession E0003
Systematic name Allele 1 and 2: g.5179G>T, c.1084G>T, r.1084g>u, p.Glu362X
Original code C2-IV-10
Description Allele 1 and 2: a point mutation in the exon 9 leading to a
Description premature stop codon
Date 04-Feb-2004 (Rel. 1, Created)
Date 04-Feb-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12426567
RefAuthors Ramoz, N., Rueda, L. A., Bouadjar, B., Montoya, L. S.,
RefAuthors Orth, G., Favre, M.
RefTitle Mutations in two adjacent novel genes are associated with
RefTitle epidermodysplasia verruciformis.
RefLoc Nat Genet 32:579-581 (2002)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0031: 5179
Feature /change: g -> t
Feature /genomic_region: exon; 9
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0031: 1456
Feature /codon: gag -> tag; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q8IU68; TMC8_HUMAN: 362
Feature /change: E -> X
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0031: 5179
Feature /change: g -> t
Feature /genomic_region: exon; 9
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0031: 1456
Feature /codon: gag -> tag; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q8IU68; TMC8_HUMAN: 362
Feature /change: E -> X
Sex XX
Ethnic origin Colombian
Parents Consanguineous
Relative TMC8base; E0002 cousin
Relative TMC8base; E0004 brother
Relative TMC8base; E0005 sister
//
ID E362X(1c),E362X(1c); standard; MUTATION;
Accession E0004
Systematic name Allele 1 and 2: g.5179G>T, c.1084G>T, r.1084g>u, p.Glu362X
Original code C2-IV-11
Description Allele 1 and 2: a point mutation in the exon 9 leading to a
Description premature stop codon
Date 04-Feb-2004 (Rel. 1, Created)
Date 04-Feb-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12426567
RefAuthors Ramoz, N., Rueda, L. A., Bouadjar, B., Montoya, L. S.,
RefAuthors Orth, G., Favre, M.
RefTitle Mutations in two adjacent novel genes are associated with
RefTitle epidermodysplasia verruciformis.
RefLoc Nat Genet 32:579-581 (2002)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0031: 5179
Feature /change: g -> t
Feature /genomic_region: exon; 9
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0031: 1456
Feature /codon: gag -> tag; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q8IU68; TMC8_HUMAN: 362
Feature /change: E -> X
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0031: 5179
Feature /change: g -> t
Feature /genomic_region: exon; 9
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0031: 1456
Feature /codon: gag -> tag; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q8IU68; TMC8_HUMAN: 362
Feature /change: E -> X
Sex XY
Ethnic origin Colombian
Parents Consanguineous
Relative TMC8base; E0002 cousin
Relative TMC8base; E0003 sister
Relative TMC8base; E0005 sister
//
ID E362X(1d),E362X(1d); standard; MUTATION;
Accession E0005
Systematic name Allele 1 and 2: g.5179G>T, c.1084G>T, r.1084g>u, p.Glu362X
Original code C2-IV-12
Description Allele 1 and 2: a point mutation in the exon 9 leading to a
Description premature stop codon
Date 04-Feb-2004 (Rel. 1, Created)
Date 04-Feb-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12426567
RefAuthors Ramoz, N., Rueda, L. A., Bouadjar, B., Montoya, L. S.,
RefAuthors Orth, G., Favre, M.
RefTitle Mutations in two adjacent novel genes are associated with
RefTitle epidermodysplasia verruciformis.
RefLoc Nat Genet 32:579-581 (2002)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0031: 5179
Feature /change: g -> t
Feature /genomic_region: exon; 9
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0031: 1456
Feature /codon: gag -> tag; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q8IU68; TMC8_HUMAN: 362
Feature /change: E -> X
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0031: 5179
Feature /change: g -> t
Feature /genomic_region: exon; 9
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0031: 1456
Feature /codon: gag -> tag; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q8IU68; TMC8_HUMAN: 362
Feature /change: E -> X
Sex XX
Ethnic origin Colombian
Parents Consanguineous
Relative TMC8base; E0002 cousin
Relative TMC8base; E0003 sister
Relative TMC8base; E0004 brother
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