Variant position: 838 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1103 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 DSMLRMLEQYSSNLEDLIRE RTEELELEKQKTDRLLTQMLP
Rat DSMLRMLEKYSQSLEGLVQE RTEELELERRKTERLLSQMLP
Bovine DSMLRMLEQYSSNLEDLIRE RTEELELEKQKTDRLLTQMLP
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
52 – 1103 Retinal guanylyl cyclase 1
488 – 1103 Cytoplasmic
Mutations in the retinal guanylate cyclase (RETGC-1) gene in dominant cone-rod dystrophy.
Kelsell R.E.; Gregory-Evans K.; Payne A.M.; Perrault I.; Kaplan J.; Yang R.-B.; Garbers D.L.; Bird A.C.; Moore A.T.; Hunt D.M.;
Hum. Mol. Genet. 7:1179-1184(1998)
Cited for: VARIANTS CORD6 ASP-837 AND CYS-838;
Identification of GUCY2D gene mutations in CORD5 families and evidence of incomplete penetrance.
Udar N.; Yelchits S.; Chalukya M.; Yellore V.; Nusinowitz S.; Silva-Garcia R.; Vrabec T.; Hussles Maumenee I.; Donoso L.; Small K.W.;
Hum. Mutat. 21:170-171(2003)
Cited for: VARIANTS CORD6 CYS-838 AND HIS-838; DISCUSSION OF PHENOTYPIC VARIABILITY;
Mutation analysis identifies GUCY2D as the major gene responsible for autosomal dominant progressive cone degeneration.
Kitiratschky V.B.; Wilke R.; Renner A.B.; Kellner U.; Vadala M.; Birch D.G.; Wissinger B.; Zrenner E.; Kohl S.;
Invest. Ophthalmol. Vis. Sci. 49:5015-5023(2008)
Cited for: INVOLVEMENT IN CORD6; VARIANTS CORD6 CYS-838; HIS-838 AND GLY-838;
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