Sequence information
Variant position: 939 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:
GKACEEVQWCGFSPCPHGAQ
C QPVLQGFECIANAVFNGQSG
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 GKACEEVQWCGFSPCPHGAQC QPVLQGFECIANAVFNGQSG
Mouse GRACEQVQWCQLSPCPPTAEC QLLPQGFECIANAVFSGLSR
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
Identification of novel mutations in patients with Leber congenital amaurosis and juvenile RP by genome-wide homozygosity mapping with SNP microarrays.
den Hollander A.I.; Lopez I.; Yzer S.; Zonneveld M.N.; Janssen I.M.; Strom T.M.; Hehir-Kwa J.Y.; Veltman J.A.; Arends M.L.; Meitinger T.; Musarella M.A.; van den Born L.I.; Fishman G.A.; Maumenee I.H.; Rohrschneider K.; Cremers F.P.; Koenekoop R.K.;
Invest. Ophthalmol. Vis. Sci. 48:5690-5698(2007)
Cited for: VARIANTS LCA8 TYR-939; TYR-948 AND PHE-1332;
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.