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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q9H251: Variant p.Gly2017Ser

Cadherin-23
Gene: CDH23
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Variant information Variant position: help 2017 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 Glycine (G) to Serine (S) at position 2017 (G2017S, p.Gly2017Ser). 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 glycine (G) to small size and polar (S) 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 USH1D; most likely affects splicing. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 2017 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 3354 The length of the canonical sequence.
Location on the sequence: help VVTYQLLGAQSGLFDINSST G VVTVRSGVIIDREAFSPPIL 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                         VVTYQLLGAQSGLFDINSSTGVVTVRSGVIIDREAFSPPIL

Mouse                         VVTYQLLGTHSDLFVIDNSTGVVTVRSGIIIDREAFSPPFL

Rat                           VVTYQLLGTHSDLFVIDNSTGVVTVRSGVIIDREAFSPPFL
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 24 – 3354 Cadherin-23
Topological domain 24 – 3064 Extracellular
Domain 1960 – 2069 Cadherin 19
Glycosylation 2013 – 2013 N-linked (GlcNAc...) asparagine
Alternative sequence 1 – 2240 Missing. In isoform 7 and isoform 9.
Alternative sequence 25 – 3127 Missing. In isoform 10 and isoform 11.
Alternative sequence 531 – 3354 Missing. In isoform 5.
Alternative sequence 1213 – 3354 Missing. In isoform 6.



Literature citations
Survey of the frequency of USH1 gene mutations in a cohort of Usher patients shows the importance of cadherin 23 and protocadherin 15 genes and establishes a detection rate of above 90%.
Roux A.-F.; Faugere V.; Le Guedard S.; Pallares-Ruiz N.; Vielle A.; Chambert S.; Marlin S.; Hamel C.; Gilbert B.; Malcolm S.; Claustres M.;
J. Med. Genet. 43:763-768(2006)
Cited for: VARIANTS USH1D LYS-247 AND SER-2017; VARIANT DFNB12 TRP-1060; FUNCTION; Mutation profile of the CDH23 gene in 56 probands with Usher syndrome type I.
Oshima A.; Jaijo T.; Aller E.; Millan J.M.; Carney C.; Usami S.; Moller C.; Kimberling W.J.;
Hum. Mutat. 29:E37-E46(2008)
Cited for: VARIANTS USH1D THR-366; TYR-755; ILE-1090; SER-1098; HIS-1496; LEU-1788; TRP-1912; ASN-1930; SER-2017; VAL-2376; ILE-2530; SER-2771 AND ALA-2968; VARIANTS ALA-490; ASN-496; ILE-746; GLY-944; LYS-960; THR-1222; GLN-1236; SER-1282; CYS-1349; ASP-1351; GLN-1437; MET-1520; THR-1574; ILE-1675; SER-1999; ILE-2283; LEU-2380; GLN-2588 AND LEU-3125;
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.