Variant position: 192 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 QPPSQFFAIDSARGIVTVIR ELDYETTQAYQLTVNATDQDK
Mouse QPPSPFFAIDSARGIVTVIQ ELDYEVTQAYQLTVNATDQDK
Rat QPPSQFFAIDSARGIVTVIR ELDYEVTQAYQLTVNATDQDK
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
133 – 236 Cadherin 2
206 – 206 N-linked (GlcNAc...) asparagine
1 – 2240 Missing. In isoform 7 and isoform 9.
25 – 3127 Missing. In isoform 10 and isoform 11.
New syndrome with retinitis pigmentosa is caused by nonsense mutations in retinol dehydrogenase RDH11.
Xie Y.A.; Lee W.; Cai C.; Gambin T.; Noupuu K.; Sujirakul T.; Ayuso C.; Jhangiani S.; Muzny D.; Boerwinkle E.; Gibbs R.; Greenstein V.C.; Lupski J.R.; Tsang S.H.; Allikmets R.;
Hum. Mol. Genet. 23:5774-5780(2014)
Cited for: VARIANTS GLN-192 AND THR-3062;
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