Sequence information
Variant position: 1961 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:
HELTKIYPGTSSPAVDRLCV
G VRPGECFGLLGVNGAGKTTT
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 HELTKIYPG----TSSPAVDRLCVG VRPGECFGLLGVNGAGKTTT
Mouse NELTKVYSG----SSSPAVDRLCVG VRPGECFGLLGVNGAG
Slime mold NNLYKKFNSVGNYKSKIAVYNSTLA IPTGQTFGLLGLNGCG
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
Variation of clinical expression in patients with Stargardt dystrophy and sequence variations in the ABCR gene.
Fishman G.A.; Stone E.M.; Grover S.; Derlacki D.J.; Haines H.L.; Hockey R.R.;
Arch. Ophthalmol. 117:504-510(1999)
Cited for: VARIANTS STGD1 VAL-60; ARG-206; ASN-300; PRO-541; ALA-849; PRO-974; VAL-1038; CYS-1108; LEU-1408; ARG-1488; ASP-1652; PRO-1729; GLU-1961; TRP-2038; TRP-2077; HIS-2107; ARG-2128 AND TYR-2150;
Further evidence for an association of ABCR alleles with age-related macular degeneration.
Allikmets R.; Tammur J.; Hutchinson A.; Lewis R.A.; Shroyer N.F.; Dalakishvili K.; Lupski J.R.; Steiner K.; Pauleikhoff D.; Holz F.G.; Weber B.H.F.; Dean M.; Atkinson A.; Gail M.H.; Bernstein P.S.; Singh N.; Peiffer A.; Zabriskie N.A.; Leppert M.; Seddon J.M.; Zhang K.; Sunness J.S.; Udar N.S.; Yelchits S.; Silva-Garcia R.; Small K.W.; Simonelli F.; Testa F.; D'Urso M.; Brancato R.; Rinaldi E.; Ingvast S.; Taube A.; Wadelius C.; Souied E.; Ducroq D.; Kaplan J.; Assink J.J.M.; ten Brink J.B.; de Jong P.T.V.M.; Bergen A.A.B.; Maugeri A.; van Driel M.A.; Hoyng C.B.; Cremers F.P.M.; Paloma E.; Coco R.; Balcells S.; Gonzalez-Duarte R.; Kermani S.; Stanga P.; Bhattacharya S.S.; Bird A.C.;
Am. J. Hum. Genet. 67:487-491(2000)
Cited for: VARIANTS GLU-1961 AND ASN-2177;
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;
New ABCR mutations and clinical phenotype in Italian patients with Stargardt disease.
Simonelli F.; Testa F.; de Crecchio G.; Rinaldi E.; Hutchinson A.; Atkinson A.; Dean M.; D'Urso M.; Allikmets R.;
Invest. Ophthalmol. Vis. Sci. 41:892-897(2000)
Cited for: VARIANTS STGD1 CYS-212; ASP-767; ILE-897; VAL-1038; LYS-1087; LYS-1399; GLN-1640 AND GLU-1961; VARIANT HIS-212;
Variation of codons 1961 and 2177 of the Stargardt disease gene is not associated with age-related macular degeneration.
Guymer R.H.; Heon E.; Lotery A.J.; Munier F.L.; Schorderet D.F.; Baird P.N.; McNeil R.J.; Haines H.L.; Sheffield V.C.; Stone E.M.;
Arch. Ophthalmol. 119:745-751(2001)
Cited for: VARIANTS GLU-1961 AND ASN-2177;
Mutations in ABCR (ABCA4) in patients with Stargardt macular degeneration or cone-rod degeneration.
Briggs C.E.; Rucinski D.; Rosenfeld P.J.; Hirose T.; Berson E.L.; Dryja T.P.;
Invest. Ophthalmol. Vis. Sci. 42:2229-2236(2001)
Cited for: VARIANTS STGD1 13-LYS--TRP-15 DEL; TYR-54; LYS-58; VAL-60; GLU-65; GLU-77; HIS-190; PRO-244; ARG-309; CYS-525; CYS-537; PRO-541; PRO-549; ARG-550; GLN-602; ARG-607; MET-643; ASP-767; PRO-797; ARG-821; THR-824; ALA-863; ALA-935; TRP-943; ALA-989; VAL-1038; CYS-1108; LEU-1108; LYS-1122; ARG-1201; GLN-1300; LEU-1380; PRO-1388; ARG-1408; LEU-1486; ARG-1488; TYR-1490; MET-1526; ASN-1532; THR-1562; TRP-1640; LEU-1776; THR-1846; GLU-1961; SER-1977; PHE-2027; GLN-2030; PRO-2035; LEU-2050; CYS-2107; HIS-2107; TRP-2139; ARG-2150 AND TYR-2150; VARIANTS CORD3 GLN-1640 AND ASP-2146; VARIANTS HIS-212; ARG-423; GLN-943; THR-1637; ILE-1868 AND LEU-1948;
Frequency of ABCA4 mutations in 278 Spanish controls: an insight into the prevalence of autosomal recessive Stargardt disease.
Riveiro-Alvarez R.; Aguirre-Lamban J.; Lopez-Martinez M.A.; Trujillo-Tiebas M.J.; Cantalapiedra D.; Vallespin E.; Avila-Fernandez A.; Ramos C.; Ayuso C.;
Br. J. Ophthalmol. 93:1359-1364(2009)
Cited for: VARIANTS STGD1 VAL-156; CYS-212; LYS-380; ARG-550; PRO-572; TRP-602; ARG-607; CYS-653; ASP-767; ILE-897; ALA-901; MET-931; SER-965; MET-1019; HIS-1108; LEU-1129; LEU-1380; ILE-1433; LEU-1486; TYR-1490; GLN-1640; TRP-1640; ARG-1748; ASP-1799; PRO-1940; GLU-1961; SER-1977; PHE-2027; ARG-2060; HIS-2107; TYR-2150 AND VAL-2241;
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.