Variant position: 1948 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 2273 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 II--------TGGNKTDI--LRLHELTKIY PG----TSSPAVDRLCVGVRPGECF
Mouse VM--------SGGNKTDI--LKLNELTKVY SG----SSSPA
Slime mold IIVKQLLDNNTNGGSGNVYPIIFNNLYKKF NSVGNYKSKIA
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.
An analysis of ABCR mutations in British patients with recessive retinal dystrophies.
Papaioannou M.; Ocaka L.; Bessant D.; Lois N.; Bird A.C.; Payne A.; Bhattacharya S.S.;
Invest. Ophthalmol. Vis. Sci. 41:16-19(2000)
Cited for: VARIANTS GLN-943 AND SER-1948; VARIANTS STGD1 TYR-54; ASP-96; HIS-96; VAL-156; VAL-407; ALA-424; ARG-445; TRP-602; 779-CYS--ASP-2273 DEL; ALA-863; ALA-1429; TRP-1640; GLU-1703; 1779-TYR--ASP-2273 DEL AND ARG-2160; VARIANTS CORD3 VAL-407; 2030-ARG--ASP-2273 DEL AND TYR-2150; VARIANT RP19 ALA-424;
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.