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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q9H251: Variant p.Val1620Met

Cadherin-23
Gene: CDH23
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Variant information Variant position: help 1620
Type of variant: help LB/B
Residue change: help From Valine (V) to Methionine (M) at position 1620 (V1620M, p.Val1620Met).
Physico-chemical properties: help Similar physico-chemical property. Both residues are medium size and hydrophobic.
BLOSUM score: help 1
Other resources: help


Sequence information Variant position: help 1620
Protein sequence length: help 3354
Location on the sequence: help YHLVATVEDEGTPTLSATTH V YVTIVDENDNAPMFQQPHYE
Residue conservation: help 
Human                         YHLVATVEDEGTPTLSATTHVYVTIVDENDNAPMFQQPHYE

Mouse                         YHLVVTVEDEGTPTLSATTHVYVTIVDENDNAPVFQQPHYE

Rat                           YHLVVTVEDEGTPTLSATTHVYVTIVDENDNAPVFQQPHYE
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 24 – 3354 Cadherin-23
Topological domain 24 – 3064 Extracellular
Domain 1529 – 1634 Cadherin 15
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
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;
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.