Variant position: 247 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 TDVQDMDPIFINLPYSTNIY EHSPPGTTVRIITAIDQDKGR
Mouse TDMQDMDPIFINLPYSTNIY EHSPPGTTVRVITAVDQDKGR
Rat TDVQDMDPIFINLPYSTNIY EHSPPGTTVRVITAVDQDKGR
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.
Survey of the frequency of USH1 gene mutations in a cohort of Usher patients shows the importance of cadherin 23 and protocadherin 15 genes and establishes a detection rate of above 90%.
Roux A.-F.; Faugere V.; Le Guedard S.; Pallares-Ruiz N.; Vielle A.; Chambert S.; Marlin S.; Hamel C.; Gilbert B.; Malcolm S.; Claustres M.;
J. Med. Genet. 43:763-768(2006)
Cited for: VARIANTS USH1D LYS-247 AND SER-2017; VARIANT DFNB12 TRP-1060; FUNCTION;
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.