Variant position: 96 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 133 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 EPLVSFSTVLKQPFRSSCHC CRPQTSKLKALRLRCSGGMRL
Mouse EPLVSFSTVLKQPFRSSCHC CRPQTSKLKALRLRCSGGMRL
Bovine EPLVSFSTVLKQPFRSSCHC CRPQTSKLKALRLRCSGGMRL
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.
Norrie disease is caused by mutations in an extracellular protein resembling C-terminal globular domain of mucins.
Meindl A.; Berger W.; Meitinger T.; van de Pol D.; Achatz H.; Dorner C.; Haasemann M.; Hellebrand H.; Gal A.; Cremers F.P.M.; Ropers H.-H.;
Nat. Genet. 2:139-143(1992)
Cited for: VARIANTS ND CYS-44; GLU-60 AND TYR-96;
Mutations in the candidate gene for Norrie disease.
Berger W.; van de Pol D.; Warburg M.; Gal A.; Bleeker-Wagemakers L.; de Silva H.; Meindl A.; Meitinger T.; Cremers F.P.M.; Ropers H.-H.;
Hum. Mol. Genet. 1:461-465(1992)
Cited for: VARIANTS ND PHE-61; CYS-74; CYS-75; PRO-90 AND TYR-96;
Norrie disease and exudative vitreoretinopathy in families with affected female carriers.
Shastry B.S.; Hiraoka M.; Trese D.C.; Trese M.T.;
Eur. J. Ophthalmol. 9:238-242(1999)
Cited for: VARIANTS ND TYR-96 AND ASP-118;
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