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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q9H251: Variant p.Arg1588Trp

Cadherin-23
Gene: CDH23
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Variant information Variant position: help 1588
Type of variant: help LB/B
Residue change: help From Arginine (R) to Tryptophan (W) at position 1588 (R1588W, p.Arg1588Trp).
Physico-chemical properties: help Change from large size and basic (R) to large size and aromatic (W)
BLOSUM score: help -3
Other resources: help


Sequence information Variant position: help 1588
Protein sequence length: help 3354
Location on the sequence: help TEGNKDMAFRMDRISGEIAT R PAPPDRERQSFYHLVATVED
Residue conservation: help 
Human                         TEGNKDMAFRMDRISGEIATRPAPPDRERQSFYHLVATVED

Mouse                         TEGNEDMTFRMDRISGEIATRPAPPDRERQNFYHLVVTVED

Rat                           TEGNEDMTFRMDRISGEIATRPAPPDRERQNFYHLVVTVED
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
Prevalence and clinical features of hearing loss patients with CDH23 mutations: a large cohort study.
Miyagawa M.; Nishio S.Y.; Usami S.;
PLoS ONE 7:E40366-E40366(2012)
Cited for: VARIANTS DFNB12 LEU-240; GLN-301; LYS-956; MET-1368; TRP-1417; ALA-1626; PRO-1716; TRP-2029; LYS-2287 AND LYS-2438; VARIANTS ASN-160; ILE-803; ILE-1415; GLY-1443; TRP-1588; ILE-1711; MET-1807; ASN-1876; ILE-1908; VAL-2130; CYS-2171; PRO-2227; PRO-2473; VAL-2669; VAL-2801; SER-2912 AND CYS-3175; 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.