Variant position: 290 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 LRSWGGILSDMSPRIQEFIH RPSMQDLLWVTRPLMQNGGPE
Mouse LRFWGGILSDLSPRMQKFIH RPSVQDLLWVSRPLLQNGGPE
Slime mold IGSNGGLNSD---------- ----------QRNILDN----
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
1 – 2273 Retinal-specific phospholipid-transporting ATPase ABCA4
43 – 646 Extracellular
75 – 324
ABCA4 mutational spectrum in Mexican patients with Stargardt disease: Identification of 12 novel mutations and evidence of a founder effect for the common p.A1773V mutation.
Chacon-Camacho O.F.; Granillo-Alvarez M.; Ayala-Ramirez R.; Zenteno J.C.;
Exp. Eye Res. 109:77-82(2013)
Cited for: VARIANTS STGD1 TRP-18; HIS-24; 89-GLU--ASP-2273 DEL; CYS-212; ASP-241; TRP-290; TRP-602; GLU-818; SER-965; ARG-1014; LEU-1129; LEU-1380; PHE-1416 DEL; HIS-1443; TRP-1551 DEL; THR-1556; 1681-VAL--VAL-1685 DEL; GLN-1705; VAL-1773; ASN-1775; HIS-1779; ILE-1868; GLN-1942; VAL-2074 AND ARG-2128; VARIANTS GLN-943 AND ILE-2255;
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