Variant position: 240 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 3354 The length of the canonical sequence.
Location on the 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.
Human ANLAIIITDVQDMDPIFINL PYSTNIYEHSPPGTTVRIITA
Mouse ANLAIIITDMQDMDPIFINL PYSTNIYEHSPPGTTVRVITA
Rat ANLAIIITDVQDMDPIFINL PYSTNIYEHSPPGTTVRVITA
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.
Type Positions Description
24 – 3354 Cadherin-23
24 – 3064 Extracellular
237 – 348 Cadherin 3
1 – 2240 Missing. In isoform 7 and isoform 9.
25 – 3127 Missing. In isoform 10 and isoform 11.
Distribution and frequencies of CDH23 mutations in Japanese patients with non-syndromic hearing loss.
Wagatsuma M.; Kitoh R.; Suzuki H.; Fukuoka H.; Takumi Y.; Usami S.;
Clin. Genet. 72:339-344(2007)
Cited for: VARIANTS DFNB12 LEU-240; GLN-301; PRO-1716 AND TRP-2029; VARIANTS TRP-1417; ILE-1711; MET-1807; ASN-1876; ILE-1908; CYS-2171; PRO-2227; ILE-2283; PRO-2473; HIS-2489; VAL-2669; VAL-2801 AND CYS-3175;
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;
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.