UniProtKB/Swiss-Prot O75443: Variant p.Tyr1870Cys

Alpha-tectorin
Gene: TECTA
Chromosomal location: 11q22-q24
Variant information

Variant position:  1870
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Disease [Disclaimer]
The variants are classified into three categories: Disease, Polymorphism and Unclassified.
  • Disease: Variants have been found in patients and disease-association is reported in literature. However, this classification is not a definitive assessment of variant pathogenicity.
  • Polymorphism: No disease-association has been reported.
  • Unclassified: Variants have been found in patients but disease-association remains unclear.

Residue change:  From Tyrosine (Y) to Cysteine (C) at position 1870 (Y1870C, p.Tyr1870Cys).
Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.

Physico-chemical properties:  Change from large size and aromatic (Y) to medium size and polar (C)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  -2
The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:
  • Lowest score: -4 (low probability of substitution).
  • Highest score: 11 (high probability of substitution).
More information can be found on the following page

Involvement in disease:  Deafness, autosomal dominant, 12 (DFNA12) [MIM:601543]: A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. Note=The disease is caused by mutations affecting the gene represented in this entry.
The name and a short description of the disease associated with the variant. For more information about the disease, the user can refer to OMIM, following the link provided after the disease acronym.

Variant description:  In DFNA12; prelingual and stable deafness.
Any additional useful information about the variant.

Other resources:  
Links to websites of interest for the variant.



Sequence information

Variant position:  1870
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  2155
The length of the canonical sequence.

Location on the sequence:   INNTKGNCGNIVQSNGTHIM  Y KNTLWIESANNTGNIITRDR
The residue change on the sequence. Unless the variant is located at the beginning or at the end of the protein sequence, both residues upstream (20) and downstream (20) of the variant will be shown.

Residue conservation: 
The multiple alignment of the region surrounding the variant against various orthologous sequences.

Human                         INNTKGNCGNIVQSNGTHIMYKNTLWIESANNTGNIITRDR

Mouse                         INNTKGNCGNIVQSNGTHIMYKNTIWIESANNTGNIITRDR

Chicken                       INNTKGNCGNLVQSNSTHIVYKNTVWIESANNTGNIITRDR

Sequence annotation in neighborhood:  
The regions or sites of interest surrounding the variant. In general the features listed are posttranslational modifications, binding sites, enzyme active sites, local secondary structure or other characteristics reported in the cited references. The "Sequence annotation in neighborhood" lines have a fixed format:
  • Type: the type of sequence feature.
  • Positions: endpoints of the sequence feature.
  • Description: contains additional information about the feature.

TypePositionsDescription
Chain 23 – 2091 Alpha-tectorin
Domain 1805 – 2059 ZP
Glycosylation 1851 – 1851 N-linked (GlcNAc...)
Glycosylation 1864 – 1864 N-linked (GlcNAc...)
Glycosylation 1880 – 1880 N-linked (GlcNAc...)


Literature citations

Mutations in the human alpha-tectorin gene cause autosomal dominant non-syndromic hearing impairment.
Verhoeven K.; Van Laer L.; Kirschhofer K.; Legan P.K.; Hughes D.C.; Schatteman I.; Verstreken M.; Van Hauwe P.; Coucke P.; Chen A.; Smith R.J.H.; Somers T.; Offeciers F.E.; Van de Heyning P.; Richardson G.P.; Wachtler F.; Kimberling W.J.; Willems P.J.; Govaerts P.J.; Van Camp G.;
Nat. Genet. 19:60-62(1998)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS DFNA12 PHE-1820; ASP-1824 AND CYS-1870; VARIANTS GLY-371; ALA-932 AND ASN-1724;

Disclaimer: Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.