Variant position: 5978 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 6306 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 SAYASPQLAEESCSAMAAVT HYLYLCQFSWMLIQSVNFWYV
Mouse SAYASPHLSEESCSAVAAVA HYLYLCQFSWMLIQSVNFWYV
Zebrafish SAFRGRMFSEDSCAALGLFF HYFHLSQFGWMLVQAINFWQI
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
30 – 6306 Adhesion G-protein coupled receptor V1
5891 – 6306 ADGRV1 subunit beta
5961 – 5979 Extracellular
1467 – 6306 Missing. In isoform 4.
2307 – 6306 Missing. In isoform 3.
Non-USH2A mutations in USH2 patients.
Besnard T.; Vache C.; Baux D.; Larrieu L.; Abadie C.; Blanchet C.; Odent S.; Blanchet P.; Calvas P.; Hamel C.; Dollfus H.; Lina-Granade G.; Lespinasse J.; David A.; Isidor B.; Morin G.; Malcolm S.; Tuffery-Giraud S.; Claustres M.; Roux A.F.;
Hum. Mutat. 33:504-510(2012)
Cited for: VARIANTS USH2C TRP-4789 AND ARG-5978;
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.