Sequence information
Variant position: 1206 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:
GPMRSSVRVIVYVEDINDEA
P VFTQQQYSRLGLRETAGIGT
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 GPMRSSVRVIVYVEDINDEAP VFTQQQYSRLGLRETAGIGT
Mouse GPMRSSVRVIVYVEDVNDEAP VFTQQQYNRLGLRETAGIGT
Rat GPMRSSVRVIVYVEDVNDEAP VFTQQQYNRLGLRETAGIGT
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
Chain
24 – 3354
Cadherin-23
Topological domain
24 – 3064
Extracellular
Domain
1103 – 1208
Cadherin 11
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
1124 – 1212
LKATDADEGEFGRVWYRILHGNHGNNFRIHVSNGLLMRGPRPLDRERNSSHVLIVEAYNHDLGPMRSSVRVIVYVEDINDEAPVFTQQQ -> EEDLASPCISPAPPRRAFQSSGEKETSQFPGKELRREPGPSKAQNRAAFTEPLAEAPLLGSKQAQEERAPLPREQAQQLQGSEGEKGGP. 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.