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UniProtKB/Swiss-Prot P78363: Variant p.Arg943Gln

Retinal-specific ATP-binding cassette transporter
Gene: ABCA4
Chromosomal location: 1p21-p22.1
Variant information

Variant position:  943
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Polymorphism
The variants are classified into three categories: Disease, Polymorphism and Unclassified.
  • Disease: Variants implicated in disease according to literature reports.
  • Polymorphism: Variants not reported to be implicated in disease.
  • Unclassified: Variants with uncertain implication in disease according to literature reports. Evidence against or in favor of a pathogenic role is limited and/or conflicting.

Residue change:  From Arginine (R) to Glutamine (Q) at position 943 (R943Q, p.Arg943Gln).
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:  Change from large size and basic (R) to medium size and polar (Q)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  1
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:  In linkage disequilibrium with A-863 in the European population.
Any additional useful information about the variant.

Other resources:  
Links to websites of interest for the variant.



Sequence information

Variant position:  943
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:   PGWVPGVCVKNLVKIFEPCG  R PAVDRLNITFYENQITAFLG
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                         PGWVPGVCVKNLVKIFEP--CGRPAVDRLNITFYENQITAFLG

Mouse                         PGLVPGVCVKNLVKVFEP--SGRPAVDRLNITFYENQITAF

Slime mold                    QLERPTISIRNLRKEFKTGDGNRIAVNDLSIDMYKNRIHSF

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.

TypePositionsDescription
Chain 1 – 2273 Retinal-specific ATP-binding cassette transporter
Topological domain 857 – 1376 Cytoplasmic
Domain 929 – 1160 ABC transporter 1


Literature citations

A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy.
Allikmets R.; Singh N.; Sun H.; Shroyer N.F.; Hutchinson A.; Chidambaram A.; Gerrard B.; Baird L.; Stauffer D.; Peiffer A.; Rattner A.; Smallwood P.M.; Li Y.; Anderson K.L.; Lewis R.A.; Nathans J.; Leppert M.; Dean M.; Lupski J.R.;
Nat. Genet. 15:236-246(1997)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; VARIANTS STGD1; VARIANTS HIS-846; GLN-943 AND ASP-1817;

Preparation of a set of expression-ready clones of mammalian long cDNAs encoding large proteins by the ORF trap cloning method.
Nakajima D.; Saito K.; Yamakawa H.; Kikuno R.F.; Nakayama M.; Ohara R.; Okazaki N.; Koga H.; Nagase T.; Ohara O.;
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]; VARIANT GLN-943;

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;

Complex inheritance of ABCR mutations in Stargardt disease: linkage disequilibrium, complex alleles, and pseudodominance.
Shroyer N.F.; Lewis R.A.; Lupski J.R.;
Hum. Genet. 106:244-248(2000)
Cited for: VARIANTS STGD1 ASP-340; GLN-572; ALA-863; SER-965; VAL-1038; ALA-1780 AND HIS-1898; VARIANT GLN-943;

Different clinical expressions in two families with Stargardt's macular dystrophy (STGD1).
Eksandh L.; Ekstroem U.; Abrahamson M.; Bauer B.; Andreasson S.;
Acta Ophthalmol. Scand. 79:524-530(2001)
Cited for: VARIANT STGD1 ASN-972; VARIANTS GLN-943; ILE-1868 AND LEU-1948;

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;

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;

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.