Sequence information
Variant position: 454 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1406 The length of the canonical sequence.
Location on the sequence:
GGRDCSDILLGCTHQQCLNN
G TCIPHFQDGQHGFSCLCPSG
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 GGRDCSDILLGCTHQQCLNNG TCIPHFQDGQHGFSCLCPSG
Mouse GGENCSEILLGCTHHQCLNNG KCIPHFQNGQHGFTCQCLSG
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.
Literature citations
CRB1 heterozygotes with regional retinal dysfunction: implications for genetic testing of Leber congenital amaurosis.
Yzer S.; Fishman G.A.; Racine J.; Al-Zuhaibi S.; Chakor H.; Dorfman A.; Szlyk J.; Lachapelle P.; van den Born L.I.; Allikmets R.; Lopez I.; Cremers F.P.; Koenekoop R.K.;
Invest. Ophthalmol. Vis. Sci. 47:3736-3744(2006)
Cited for: VARIANT LCA8 ARG-454;
Disclaimer:
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.