Variant position: 1129 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 SGRTIIMSTHHMDEADLLGD RIAIIAQGRLYCSGTPLFLKN
Mouse SGRTIIMSTHHMDEADLLGD RIAIISQGRLYCSGTPLFLKN
Slime mold ENKTIILVSHYLEECDILSN TISIIANGELKCNGSSLFLKN
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
857 – 1376 Cytoplasmic
929 – 1160 ABC transporter 1
Analysis of the ABCR (ABCA4) gene in 4-aminoquinoline retinopathy: is retinal toxicity by chloroquine and hydroxychloroquine related to Stargardt disease?
Shroyer N.F.; Lewis R.A.; Lupski J.R.;
Am. J. Ophthalmol. 131:761-766(2001)
Cited for: VARIANTS RETINAL TOXICITY CYS-1129; ARG-1201 AND HIS-2107; VARIANTS HIS-212; ARG-423; ILE-1868 AND ILE-2255;
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.