Sequence information
Variant position: 1970 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:
TSSPAVDRLCVGVRPGECFG
L LGVNGAGKTTTFKMLTGDTT
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 TSSPAVDRLCVGVRPGECFGL LGVNGAGKTTTFKMLTGDTT
Mouse SSSPAVDRLCVGVRPGECFGL LGVNGAGKTTTFKMLTGDTT
Slime mold KSKIAVYNSTLAIPTGQTFGL LGLNGCGKSTTLGMISGEIS
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
Chain
1 – 2273
Retinal-specific phospholipid-transporting ATPase ABCA4
Topological domain
1895 – 2273
Cytoplasmic
Domain
1938 – 2170
ABC transporter 2
Mutagenesis
1975 – 1975
G -> D. Inhibition of retinal-stimulated ATP hydrolysis.
Mutagenesis
1978 – 1978
K -> M. Inhibition of retinal-stimulated ATP hydrolysis.
Mutagenesis
1978 – 1978
K -> M. Inhibits ATPase activity; when associated with M-969. Decreases translocase activity; when associated with M-969. Does not affect protein subcellular localization in endoplasmic reticulum; when associated with M-969.
Literature citations
Spectrum of ABCR gene mutations in autosomal recessive macular dystrophies.
Rozet J.-M.; Gerber S.; Souied E.; Perrault I.; Chatelin S.; Ghazi I.; Leowski C.; Dufier J.-L.; Munnich A.; Kaplan J.;
Eur. J. Hum. Genet. 6:291-295(1998)
Cited for: VARIANTS STGD1 TRP-18; CYS-212; HIS-636; MET-1019; VAL-1038; CYS-1108; TRP-1640; SER-1977 AND HIS-2107; VARIANTS FFM PRO-11; PRO-541; VAL-1038; GLU-1091; CYS-1508; PHE-1970 AND ARG-1971;
A comprehensive survey of sequence variation in the ABCA4 (ABCR) gene in Stargardt disease and age-related macular degeneration.
Rivera A.; White K.; Stoehr H.; Steiner K.; Hemmrich N.; Grimm T.; Jurklies B.; Lorenz B.; Scholl H.P.N.; Apfelstedt-Sylla E.; Weber B.H.F.;
Am. J. Hum. Genet. 67:800-813(2000)
Cited for: VARIANTS STGD1 GLU-60; THR-60; GLU-65; LEU-68; ARG-72; CYS-212; SER-230; SER-247; VAL-328; LYS-471; PRO-541; GLN-572; ARG-607; LYS-635; CYS-653; TYR-764; ARG-765; ALA-901; ILE-959; LYS-1036; VAL-1038; PRO-1063; ASP-1087; CYS-1097; CYS-1108; LEU-1380; LYS-1399; PRO-1430; VAL-1440; HIS-1443; LEU-1486; TYR-1488; MET-1537; PRO-1689; LEU-1705; THR-1733; ARG-1748; PRO-1763; LYS-1885; HIS-1898; GLU-1961; ARG-1975; SER-1977; GLY-2077; TRP-2077 AND VAL-2241; VARIANTS GLN-152; HIS-212; ARG-423; ILE-552; ARG-914; GLN-943; THR-1562; ILE-1868; MET-1921; LEU-1948; PHE-1970; ALA-2059; ASN-2177 AND VAL-2216;
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.