Variant position: 1349 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 GTEIVRVQAYSIDNLNQITY RFNAYTSTQAKALFKIDAITG
Mouse GTEIVRVQAYSIDNLNQITY RFDAYTSAQAKALFKIDAITG
Rat GTEIVRVQAYSIDNLNQITY RFDAYTSAQAKALFKIDAITG
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
1314 – 1418 Cadherin 13
1 – 2240 Missing. In isoform 7 and isoform 9.
25 – 3127 Missing. In isoform 10 and isoform 11.
531 – 3354 Missing. In isoform 5.
1213 – 3354 Missing. In isoform 6.
1347 – 1350
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;
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;
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.