Variant position: 2255 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 SVTQTTLDQVFVNFAKQQTE SHDLPLHPRAAGASRQAQD--------------------------------------
Mouse SVTQTTLDQVFVNFAKQQTE TYDLPLHPRAAGASWQAKL
Slime mold SVSQTSIEQIFIKLTKNSIT NIDN---------------
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
1895 – 2273 Cytoplasmic
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;
Late-onset Stargardt disease is associated with missense mutations that map outside known functional regions of ABCR (ABCA4).
Yatsenko A.N.; Shroyer N.F.; Lewis R.A.; Lupski J.R.;
Hum. Genet. 108:346-355(2001)
Cited for: VARIANTS FFM GLY-339; ALA-863; TRP-943; ARG-991; VAL-1038; CYS-1108; ARG-1488; THR-1562; GLN-1640; PHE-2027; GLN-2030 AND CYS-2106; VARIANTS HIS-212; ARG-423; GLN-943; THR-1148; ILE-1868 AND ILE-2255;
Spectrum of ABCA4 (ABCR) gene mutations in Spanish patients with autosomal recessive macular dystrophies.
Paloma E.; Martinez-Mir A.; Vilageliu L.; Gonzalez-Duarte R.; Balcells S.;
Hum. Mutat. 17:504-510(2001)
Cited for: VARIANTS STGD1 SER-686; TRP-1055; ASP-1799; ASP-1805; PRO-1940 AND HIS-2107; VARIANTS FFM MET-1253 AND PRO-1940; VARIANTS CORD3 CYS-212 AND ARG-2060; VARIANTS GLN-943; LEU-1948 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.