Home  |  Contact

UniProtKB/Swiss-Prot Q9H251: Variant p.Ser496Asn

Gene: CDH23
Variant information

Variant position:  496
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  LB/B
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:  From Serine (S) to Asparagine (N) at position 496 (S496N, p.Ser496Asn).
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 small size and polar (S) to medium size and polar (N)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  1
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

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

Sequence information

Variant position:  496
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  3354
The length of the canonical sequence.

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.




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.

Chain 24 – 3354 Cadherin-23
Topological domain 24 – 3064 Extracellular
Domain 461 – 561 Cadherin 5
Alternative sequence 1 – 2240 Missing. In isoform 7 and isoform 9.
Alternative sequence 25 – 3127 Missing. In isoform 10 and isoform 11.

Literature citations

Mutation of CDH23, encoding a new member of the cadherin gene family, causes Usher syndrome type 1D.
Bolz H.; Von Brederlow B.; Ramirez A.; Bryda E.C.; Kutsche K.; Nothwang H.G.; Seeliger M.; Del C.-Salcedo Cabrera M.; Vila Caballero M.; Pelaez Molina O.; Gal A.; Kubisch C.;
Nat. Genet. 27:108-112(2001)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; FUNCTION; ALTERNATIVE SPLICING; TISSUE SPECIFICITY; VARIANTS USH1D MET-1281 DEL; HIS-1496 AND GLN-1746; VARIANTS CYS-3; ALA-490; ASN-496; THR-1222; CYS-1349; ASP-1351; THR-1575; SER-1671; ILE-1675; GLN-1804; SER-1999; LYS-2044; GLN-2358; LEU-2380; GLN-2588 AND LEU-3125;

Prediction of the coding sequences of unidentified human genes. XX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro.
Nagase T.; Nakayama M.; Nakajima D.; Kikuno R.; Ohara O.;
DNA Res. 8:85-95(2001)

CDH23 mutation and phenotype heterogeneity: a profile of 107 diverse families with Usher syndrome and nonsyndromic deafness.
Astuto L.M.; Bork J.M.; Weston M.D.; Askew J.W.; Fields R.R.; Orten D.J.; Ohliger S.J.; Riazuddin S.; Morell R.J.; Khan S.; Riazuddin S.; Kremer H.; van Hauwe P.; Moller C.G.; Cremers C.W.R.J.; Ayuso C.; Heckenlively J.R.; Rohrschneider K.; Spandau U.; Greenberg J.; Ramesar R.; Reardon W.; Bitoun P.; Millan J.; Legge R.; Friedman T.B.; Kimberling W.J.;
Am. J. Hum. Genet. 71:262-275(2002)
Cited for: VARIANTS DFNB12 GLY-124; SER-452; GLN-480; GLN-582; TRP-1060; ASP-1186; PRO-1586; LYS-1595; ASN-1846; TRP-2465 AND HIS-2608; VARIANTS USH1D PRO-484; ARG-1206; ALA-1209; GLY-2517; SER-2744; GLY-2833 AND HIS-3175; VARIANTS CYS-3; ALA-490; ASN-496; THR-1222; GLN-1437; MET-1620; ILE-1675; GLN-1804; ILE-1887; SER-1999; LYS-2044; GLN-2066; ILE-2283; GLN-2358; LEU-2380; GLN-2588; GLU-2933; ASN-2954 AND SER-2962;

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;

Identification of CDH23 mutations in Korean families with hearing loss by whole-exome sequencing.
Woo H.M.; Park H.J.; Park M.H.; Kim B.Y.; Shin J.W.; Yoo W.G.; Koo S.K.;
BMC Med. Genet. 15:46-46(2014)
Cited for: VARIANTS DFNB12 LEU-240; SER-342 AND LYS-1595; VARIANTS SER-361; MET-424; ASN-428; ALA-490; ASN-496; GLN-964; HIS-1010; SER-1118; ALA-1335; ASP-1351; GLN-1437; THR-1575; TRP-1588; ILE-1675; GLN-1804; GLU-1806; SER-1999; LYS-2044; ILE-2283; GLN-2358; LEU-2380; VAL-2531; VAL-2801; THR-3080 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.