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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P78363: Variant p.Arg1129Leu

Retinal-specific phospholipid-transporting ATPase ABCA4
Gene: ABCA4
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Variant information Variant position: help 1129 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LP/P [Disclaimer] The variants are classified into three categories: LP/P, LB/B and US.
  • LP/P: likely pathogenic or pathogenic.
  • LB/B: likely benign or benign.
  • US: uncertain significance
Residue change: help From Arginine (R) to Leucine (L) at position 1129 (R1129L, p.Arg1129Leu). Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.
Physico-chemical properties: help Change from large size and basic (R) to medium size and hydrophobic (L) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -2 The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:
  • Lowest score: -4 (low probability of substitution).
  • Highest score: 11 (high probability of substitution).
More information can be found on the following page
Variant description: help In STGD1, CORD3 and RP19; pathogenic; also found in patients with fundus flavimaculatus. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 1129 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 2273 The length of the canonical sequence.
Location on the sequence: help SGRTIIMSTHHMDEADLLGD R IAIIAQGRLYCSGTPLFLKN 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences. 
Human                         SGRTIIMSTHHMDEADLLGDRIAIIAQGRLYCSGTPLFLKN

Mouse                         SGRTIIMSTHHMDEADLLGDRIAIISQGRLYCSGTPLFLKN

Bovine                        SGRTIIMSTHHMDEADILGDRIAIISQGRLYCSGTPLFLKN

Slime mold                    ENKTIILVSHYLEECDILSNTISIIANGELKCNGSSLFLKN
Sequence annotation in neighborhood: help 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.
TypePositionsDescription
Chain 1 – 2273 Retinal-specific phospholipid-transporting ATPase ABCA4
Topological domain 857 – 1376 Cytoplasmic
Domain 929 – 1160 ABC transporter 1
Binding site 1118 – 1118
Disulfide bond 641 – 1490 Interchain



Literature citations
Mutation of the Stargardt disease gene (ABCR) in age-related macular degeneration.
Allikmets R.; Shroyer N.F.; Singh N.; Seddon J.M.; Lewis R.A.; Bernstein P.S.; Peiffer A.; Zabriskie N.A.; Li Y.; Hutchinson A.; Dean M.; Lupski J.R.; Leppert M.;
Science 277:1805-1807(1997)
Cited for: VARIANTS ARMD2 LYS-471; LEU-1129; SER-1517; THR-1562; ARG-1578; HIS-1898 AND PHE-1970; VARIANTS STGD1 HIS-846 AND ALA-863; VARIANTS GLY-643; GLN-943; MET-1428; GLU-1961; ASN-2177 AND ILE-2255; Genotype/phenotype analysis of a photoreceptor-specific ATP-binding cassette transporter gene, ABCR, in Stargardt disease.
Lewis R.A.; Shroyer N.F.; Singh N.; Allikmets R.; Hutchinson A.; Li Y.; Lupski J.R.; Leppert M.; Dean M.;
Am. J. Hum. Genet. 64:422-434(1999)
Cited for: VARIANTS STGD1 ARG-68; GLY-75; GLY-249; CYS-336; GLU-523; ILE-608; ARG-821; HIS-846; ASP-851; VAL-1038; LEU-1071; ALA-1072; CYS-1129; LEU-1129; TYR-1406; LEU-1408; ASP-1439; SER-1440; ARG-1488; ASN-1696; 1761-PRO--LEU-1763 DEL; PRO-1820; TYR-1838; TRP-1843; GLU-1886 AND GLU-1961; REVIEW; Denaturing HPLC profiling of the ABCA4 gene for reliable detection of allelic variations.
Stenirri S.; Fermo I.; Battistella S.; Galbiati S.; Soriani N.; Paroni R.; Manitto M.P.; Martina E.; Brancato R.; Allikmets R.; Ferrari M.; Cremonesi L.;
Clin. Chem. 50:1336-1343(2004)
Cited for: VARIANTS STGD1 TRP-18; LYS-96; VAL-108; LEU-143; GLN-152; GLN-223; SER-230; 245-TYR--ASP-2273 DEL; THR-246; GLU-498; PRO-541; ARG-550; GLN-572; 639-TYR--ASP-2273 DEL; SER-641; CYS-653; VAL-690; 700-TRP--ASP-2273 DEL; ASP-767; ARG-821; ALA-863; 876-GLN--ASP-2273 DEL; ILE-897; ASP-954; SER-965; ASP-978; LYS-1022; VAL-1038; ASP-1050; LYS-1087; CYS-1098; PRO-1099; CYS-1108; HIS-1108; LEU-1129; ARG-1203; ASP-1203; ASN-1204; 1300-ARG--ASP-2273 DEL; GLN-1300; TYR-1490; ARG-1512; MET-1526; ASP-1598; 1652-TYR--ASP-2273 DEL; ASP-1762; ASN-1838; TYR-1838; GLU-1961; PHE-1970; PHE-2027; GLN-2030; LEU-2050; HIS-2107; TRP-2139; LEU-2149; TYR-2150; ASN-2177 AND VAL-2241; VARIANTS HIS-212; ARG-423; GLN-943; LEU-1380; ILE-1868 AND LEU-1948; Molecular analysis of the ABCA4 gene for reliable detection of allelic variations in Spanish patients: identification of 21 novel variants.
Aguirre-Lamban J.; Riveiro-Alvarez R.; Maia-Lopes S.; Cantalapiedra D.; Vallespin E.; Avila-Fernandez A.; Villaverde-Montero C.; Trujillo-Tiebas M.J.; Ramos C.; Ayuso C.;
Br. J. Ophthalmol. 93:614-621(2009)
Cited for: VARIANTS STGD1 TRP-602; MET-931; MET-1019; HIS-1108; LEU-1129; LEU-1486; GLN-1640; GLU-1961; SER-1977; PHE-2027 AND HIS-2107; VARIANTS CORD3 LEU-1129 AND ILE-1433; VARIANTS RP19 VAL-156; LEU-1129 AND ILE-1433; VARIANT ILE-552; 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; Detection rate of pathogenic mutations in ABCA4 using direct sequencing: clinical and research implications.
Downes S.M.; Packham E.; Cranston T.; Clouston P.; Seller A.; Nemeth A.H.;
Arch. Ophthalmol. 130:1486-1490(2012)
Cited for: VARIANTS 219-ARG--ASP-2273 DEL; HIS-576; GLN-943; ARG-1488; MET-1526; CYS-1557; THR-1562; GLU-1773; ASP-1794; 2040-ARG--ASP-2273 DEL AND CYS-2107; VARIANTS STGD1 TYR-54; GLN-152; ARG-184; PHE-184; CYS-212; SER-418; LYS-471; MET-643; CYS-653; 782-TRP--ASP-2273 DEL; ALA-863; ALA-989; ARG-991; MET-1019; LYS-1022; SER-1097; CYS-1108; LYS-1122; LEU-1129; ARG-1201; LEU-1380; LYS-1442; LEU-1486; TYR-1490; ASP-1598; ASP-1754; THR-1846; GLU-1961; PHE-2027; GLN-2030; CYS-2106; LYS-2131; TYR-2150 AND PRO-2237; 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; GLN-1942; VAL-2074 AND ARG-2128; VARIANTS GLN-943; ILE-1868 AND ILE-2255; Outcome of ABCA4 disease-associated alleles in autosomal recessive retinal dystrophies: retrospective analysis in 420 Spanish families.
Riveiro-Alvarez R.; Lopez-Martinez M.A.; Zernant J.; Aguirre-Lamban J.; Cantalapiedra D.; Avila-Fernandez A.; Gimenez A.; Lopez-Molina M.I.; Garcia-Sandoval B.; Blanco-Kelly F.; Corton M.; Tatu S.; Fernandez-San Jose P.; Trujillo-Tiebas M.J.; Ramos C.; Allikmets R.; Ayuso C.;
Ophthalmology 120:2332-2337(2013)
Cited for: VARIANTS STGD1 TRP-18; LEU-153; CYS-212; ALA-291; CYS-537; PRO-541; TRP-602; PRO-611; CYS-653; SER-686; GLU-762; MET-931; ALA-989; MET-1019; ARG-1094; LEU-1096; CYS-1098; HIS-1108; LYS-1122; GLU-1127; LEU-1129; THR-1357; LEU-1380; LEU-1486; MET-1526; ASP-1598; GLN-1640; CYS-1724; ASP-1799; ASP-1805; ASP-1838; ASP-1844; PRO-1940; ARG-1961; GLU-1961; SER-1977; ASN-2047; ARG-2060; GLN-2077; TYR-2137; TYR-2150 AND SER-2188; REVIEW;
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.