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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot O75443: Variant p.Leu1820Phe

Alpha-tectorin
Gene: TECTA
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Variant information Variant position: help 1820 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LP/P [Disclaimer] The variants are classified into three categories: LP/P, LB/B and US.
  • LP/P: likely pathogenic or pathogenic.
  • LB/B: likely benign or benign.
  • US: uncertain significance
Residue change: help From Leucine (L) to Phenylalanine (F) at position 1820 (L1820F, p.Leu1820Phe). 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: help Change from medium size and hydrophobic (L) to large size and aromatic (F) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 0 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
Variant description: help In DFNA12; prelingual and stable deafness. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 1820 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 2155 The length of the canonical sequence.
Location on the sequence: help IDAEVTCKAAQMEVSISKCK L FQLGFEREGVRINDRQCTGI 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences. 
Human                         IDAEVTCKAAQMEVSISKCKLFQLGFEREGVRINDRQCTGI

Mouse                         IDAEVTCKAAQMEVSISKCKLFQLGFEREGVRINDRQCSGI

Chicken                       IDAEVTCKAAQMEVSISKCKLFQLGFEREGVRVNDRHCPGI
Sequence annotation in neighborhood: help 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
Disulfide bond 1806 – 1898



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.