Database TMC6base
Version 1.1
File tmc6pub.html
Date 21-Aug-2008
Curator Mauno Vihinen
Address Institute of Medical Technology
Address FI-33014 University of Tampere, Finland
Phone +358-3-3551 7735
Fax +358-3-3551 7710
Email Mauno.Vihinen@uta.fi
URL http://bioinf.uta.fi/TMC6base/
FTP ftp://protein.uta.fi/pub/tmc6pub.dat
IDR factfile http://bioinf.uta.fi/xml/idr/ff/FF114.xml
Gene TMC6
Disease Epidermodysplasia verruciformis
OMIM 605828
Sequence IDRefSeq:D0030; IDRefSeq:C0030; UniProt:Q8IU98
Numbering start of the entry
Funding Tampere University Hospital Medical Research Fund
Funding European Union
Comments previously known as EVER1base
Comments sequence entry reference in every entry
//
ID Q74X(1),Q74X(1); standard; MUTATION;
Accession E0011
Systematic name Allele 1 and 2: g.7080C>T, c.220C>T, r.220c>u, p.Gln74X
Original code patient
Description Allele 1 and 2: A point mutation in the exon 4 leading to a
Description premature stop codon
Date 28-May-2008 (Rel. 1, Created)
Date 28-May-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17916203
RefAuthors Aochi, S., Nakanishi, G., Suzuki, N., Setsu, N., Suzuki,
RefAuthors D., Aya, K., Iwatsuki, K.
RefTitle A novel homozygous mutation of the EVER1/TMC6 gene in a
RefTitle japanese patient with epidermodysplasia verruciformis.
RefLoc Br J Dermatol:1265-1266 (2007)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0030: 7080
Feature /change: c -> t
Feature /genomic_region: exon; 4
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0030; GI:34222212; TMC6C: 361
Feature /codon: cag -> tag; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q8IU98; Q8IU98: 74
Feature /change: Q -> X
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0030: 7080
Feature /change: c -> t
Feature /genomic_region: exon; 4
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0030; GI:34222212; TMC6C: 361
Feature /codon: cag -> tag; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q8IU98; Q8IU98: 74
Feature /change: Q -> X
Symptoms Multiple scaly erythematous plaques in neck, trunk and
Symptoms extremities
Age 11
Sex XX
Ethnic origin Mongoloid; Japan
Parents Consanguineous
//
ID R94X(1a),R94X(1a); standard; MUTATION;
Accession E0001
Systematic name Allele 1 and 2: g.7532C>T, c.280C>T, r.280c>u, p.Arg94X
Original code A1-IV-1
Description Allele 1 and 2: a point mutation in the exon 5 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: D0030: 7532
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0030: 421
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q8IU98; TMC6_HUMAN: 94
Feature /change: R -> X
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0030: 7532
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 5
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0030: 421
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q8IU98; TMC6_HUMAN: 94
Feature /change: R -> X
Sex XY
Ethnic origin Algerian
Parents Consanguineous
Relative TMC6base; E0002 brother
//
ID R94X(1b),R94X(1b); standard; MUTATION;
Accession E0002
Systematic name Allele 1 and 2: g.7532C>T, c.280C>T, r.280c>u, p.Arg94X
Original code A1-IV-4
Description Allele 1 and 2: a point mutation in the exon 5 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: D0030: 7532
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0030: 421
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q8IU98; TMC6_HUMAN: 94
Feature /change: R -> X
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0030: 7532
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 5
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0030: 421
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q8IU98; TMC6_HUMAN: 94
Feature /change: R -> X
Sex XY
Ethnic origin Algerian
Parents Consanguineous
Relative TMC6base; E0001 brother
//
ID R94X(2),R94X(2); standard; MUTATION;
Accession E0003
Systematic name Allele 1 and 2: g.7532C>T, c.280C>T, r.280c>u, p.Arg94X
Original code A2-IV-1
Description Allele 1 and 2: a point mutation in the exon 5 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: D0030: 7532
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0030: 421
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q8IU98; TMC6_HUMAN: 94
Feature /change: R -> X
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0030: 7532
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 5
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0030: 421
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q8IU98; TMC6_HUMAN: 94
Feature /change: R -> X
Sex XX
Ethnic origin Algerian
Parents Consanguineous
//
ID Y248X(1),Intron 8(1); standard; MUTATION;
Accession E0007
Systematic name Allele 1: g.8737C>A, c.744C>A, r.744c>a, p.Tyr248X
Systematic name Allele 2: g.IVS8-2A>T, c.892-2A>T, r.892-2a>u,
Original code 65-year-old Japanese woman
Description Allele 1: a point mutation in the exon 8 leading to a
Description premature stop codon
Description Allele 2: a point mutation in the intron 8 leading to an
Description amino acid change
Date 07-May-2004 (Rel. 1, Created)
Date 07-May-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15042430
RefAuthors Tate, G., Suzuki, T., Kishimoto, K., Mitsuya, T.
RefTitle Novel mutations of EVER1/TMC6 gene in a japanese patient
RefTitle with epidermodysplasia verruciformis.
RefLoc J Hum Genet 49:223-225 (2004)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0030: 8737
Feature /change: c -> a
Feature /genomic_region: exon; 8
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0030: 885
Feature /codon: tac -> taa; 3
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q8IU98; TMC6_HUMAN: 248
Feature /change: Y -> X
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0030: 9227
Feature /change: a -> t
Feature /genomic_region: intron; 8
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: unknown
Feature /inexloc: -2
Feature aa; 6
Feature /rnalink: 5
Feature /name: unknown
Symptoms Flat warts beginning when she was a teenager, Bowen disease
Symptoms in the hand three times, gastric cancer, multiple skin
Symptoms cancers in her face (squamous cell carcinoma and Bowen
Symptoms disease)
Sex XX
Ethnic origin Mongoloid; Japan
Parents Non-consanguineous
//
ID @Y306X317(1a),@Y306X317(1a); standard; MUTATION;
Accession E0008
Systematic name Allele 1 and 2: g.9249_9253dup, c.912_916dup, r.912_916dup,
Systematic name p.Tyr306fsX12
Original code Family 2, propand
Description Allele 1 and 2: A frame shift duplication mutation in the
Description exon 9 leading to a premature stop codon
Date 22-Mar-2007 (Rel. 1, Created)
Date 22-Mar-2007 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17008061
RefAuthors Zuo, Y. G., Ma, D., Zhang, Y., Qiao, J., Wang, B.
RefTitle Identification of a novel mutation and a genetic
RefTitle polymorphism of EVER1 gene in two families with
RefTitle epidermodysplasia verruciformis.
RefLoc J Dermatol Sci:153-159 (2006)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: duplication
Feature /loc: IDRefSeq: D0030: 9254
Feature /change: +catgt
Feature /genomic_region: exon; 9
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0030; GI:34222212; TMC6C: 1058
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q8IU98; Q8IU98: 306
Feature /change: Y -> SCTTATTVTP RX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: duplication
Feature /loc: IDRefSeq: D0030: 9254
Feature /change: +catgt
Feature /genomic_region: exon; 9
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0030; GI:34222212; TMC6C: 1058
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q8IU98; Q8IU98: 306
Feature /change: Y -> SCTTATTVTP RX
Symptoms flat-wart-like brown papules on his face which gradually
Symptoms progressed on the body for 18 years
Sex XY
Ethnic origin Mongoloid; China
Parents Consanguineous
Relative TMC6base; E0009 brother
//
ID @Y306X317(1b),@Y306X317(1b); standard; MUTATION;
Accession E0009
Systematic name Allele 1 and 2: g.9249_9253dup, c.912_916dup, r.912_916dup,
Systematic name p.Tyr306fsX12
Original code Family 2, elder brother of the propand
Description Allele 1 and 2: A frame shift duplication mutation in the
Description exon 9 leading to a premature stop codon
Date 22-Mar-2007 (Rel. 1, Created)
Date 22-Mar-2007 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17008061
RefAuthors Zuo, Y. G., Ma, D., Zhang, Y., Qiao, J., Wang, B.
RefTitle Identification of a novel mutation and a genetic
RefTitle polymorphism of EVER1 gene in two families with
RefTitle epidermodysplasia verruciformis.
RefLoc J Dermatol Sci:153-159 (2006)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: duplication
Feature /loc: IDRefSeq: D0030: 9254
Feature /change: +catgt
Feature /genomic_region: exon; 9
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0030; GI:34222212; TMC6C: 1058
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q8IU98; Q8IU98: 306
Feature /change: Y -> SCTTATTVTP RX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: duplication
Feature /loc: IDRefSeq: D0030: 9254
Feature /change: +catgt
Feature /genomic_region: exon; 9
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0030; GI:34222212; TMC6C: 1058
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q8IU98; Q8IU98: 306
Feature /change: Y -> SCTTATTVTP RX
Symptoms Patient has the same history of disease and skin lesions as
Symptoms his brother (E0008)
Sex XY
Ethnic origin Mongoloid; China
Parents Consanguineous
Relative TMC6base; E0008 brother
//
ID #L323X349(1),#L323X349(1); standard; MUTATION;
Accession E0010
Systematic name Allele 1 and 2: g.9305delT, c.968delT, r.968delu,
Systematic name p.Leu323fsX27
Original code 34-year-old man
Description Allele 1 and 2: A frame shift deletion mutation in the exon
Description 9 leading to a premature stop codon
Date 22-Mar-2007 (Rel. 1, Created)
Date 22-Mar-2007 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17139267
RefAuthors Gober, M. D., Rady, P. L., He, Q., Tucker, S. B., Tyring,
RefAuthors S. K., Gaspari, A. A.
RefTitle Novel homozygous frameshift mutation of EVER1 gene in an
RefTitle epidermodysplasia verruciformis patient.
RefLoc J Invest Dermatol:817-820 (2007)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0030: 9305
Feature /change: -t
Feature /genomic_region: exon; 9
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0030; GI:34222212; TMC6C: 1109
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q8IU98; Q8IU98: 323
Feature /change: L -> RMAASAHPGW VACPTTCPWP TSPLWAX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0030: 9305
Feature /change: -t
Feature /genomic_region: exon; 9
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0030; GI:34222212; TMC6C: 1109
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q8IU98; Q8IU98: 323
Feature /change: L -> RMAASAHPGW VACPTTCPWP TSPLWAX
Symptoms multiple verrucous lesions on his face, torso, and
Symptoms extrimities that first appeared at age 14
Sex XY
Ethnic origin Pakistani
Parents Consanguineous
//
ID E576X(1a),E576X(1a); standard; MUTATION;
Accession E0004
Systematic name Allele 1 and 2: g.14026G>T, c.1726G>T, r.1726g>u, p.Glu576X
Original code C1-IV-1
Description Allele 1 and 2: a point mutation in the exon 14 leading to
Description 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: point
Feature /loc: IDRefSeq: D0030: 14026
Feature /change: g -> t
Feature /genomic_region: exon; 14
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0030: 1867
Feature /codon: gag -> tag; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q8IU98; TMC6_HUMAN: 576
Feature /change: E -> X
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0030: 14026
Feature /change: g -> t
Feature /genomic_region: exon; 14
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0030: 1867
Feature /codon: gag -> tag; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q8IU98; TMC6_HUMAN: 576
Feature /change: E -> X
Sex XY
Ethnic origin Colombian
Parents Consanguineous
Relative TMC6base; E0005 sister
Relative TMC6base; E0006 sister
//
ID E576X(1b),E576X(1b); standard; MUTATION;
Accession E0005
Systematic name Allele 1 and 2: g.14026G>T, c.1726G>T, r.1726g>u, p.Glu576X
Original code C1-IV-3
Description Allele 1 and 2: a point mutation in the exon 14 leading to
Description 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: point
Feature /loc: IDRefSeq: D0030: 14026
Feature /change: g -> t
Feature /genomic_region: exon; 14
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0030: 1867
Feature /codon: gag -> tag; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q8IU98; TMC6_HUMAN: 576
Feature /change: E -> X
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0030: 14026
Feature /change: g -> t
Feature /genomic_region: exon; 14
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0030: 1867
Feature /codon: gag -> tag; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q8IU98; TMC6_HUMAN: 576
Feature /change: E -> X
Sex XX
Ethnic origin Colombian
Parents Consanguineous
Relative TMC6base; E0004 brother
Relative TMC6base; E0006 sister
//
ID E576X(1c),E576X(1c); standard; MUTATION;
Accession E0006
Systematic name Allele 1 and 2: g.14026G>T, c.1726G>T, r.1726g>u, p.Glu576X
Original code C1-IV-5
Description Allele 1 and 2: a point mutation in the exon 14 leading to
Description 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: point
Feature /loc: IDRefSeq: D0030: 14026
Feature /change: g -> t
Feature /genomic_region: exon; 14
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0030: 1867
Feature /codon: gag -> tag; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q8IU98; TMC6_HUMAN: 576
Feature /change: E -> X
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0030: 14026
Feature /change: g -> t
Feature /genomic_region: exon; 14
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0030: 1867
Feature /codon: gag -> tag; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q8IU98; TMC6_HUMAN: 576
Feature /change: E -> X
Sex XX
Ethnic origin Colombian
Parents Consanguineous
Relative TMC6base; E0004 brother
Relative TMC6base; E0005 sister
//
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