Variant position: 312 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 LAALANSSQLRRAHDAVLTL TRHCPSEGSVLDSLRRAQERR
Rat YLVLDDDGPLQEAYDAVLTI SLDTSPESHAFTATKM---RG
Bovine LAVLANSSQLRKAHDAVLTL TRHCPLGGSVRDSLRRAQEHR
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
52 – 462 Extracellular
297 – 297 N-linked (GlcNAc...) asparagine
Detection of variants in 15 genes in 87 unrelated Chinese patients with Leber congenital amaurosis.
Li L.; Xiao X.; Li S.; Jia X.; Wang P.; Guo X.; Jiao X.; Zhang Q.; Hejtmancik J.F.;
PLoS ONE 6:E19458-E19458(2011)
Cited for: VARIANTS LCA1 MET-55; VAL-103; MET-312; 405-PRO-ASN-406; CYS-438; LEU-640; GLN-660; HIS-728; ALA-734; TRP-768; ARG-784 AND LEU-1007; GLY-ILE-1027 INS; VARIANTS ARG-21; SER-52 AND SER-701;
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.