Variant position: 795 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 QAPVECILLMKQCWAEQPEL RPSMDHTFDLFKNINKGRKTN
Rat QGPLECIQLMQLCWEEAPDD RPSLDQIYTQFKSINQGKKTS
Bovine QAPMECIQLMKQCWAEQPEL RPSMDRTFELFKSINKGRKMN
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
525 – 808 Protein kinase
Clinical and molecular genetics of Leber's congenital amaurosis: a multicenter study of Italian patients.
Simonelli F.; Ziviello C.; Testa F.; Rossi S.; Fazzi E.; Bianchi P.E.; Fossarello M.; Signorini S.; Bertone C.; Galantuomo S.; Brancati F.; Valente E.M.; Ciccodicola A.; Rinaldi E.; Auricchio A.; Banfi S.;
Invest. Ophthalmol. Vis. Sci. 48:4284-4290(2007)
Cited for: VARIANTS LCA1 TRP-768 AND GLN-795; VARIANTS ARG-325 AND SER-701; POSSIBLE INVOLVEMENT OF VARIANT SER-701 IN LEBER CONGENITAL AMAUROSIS;
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.