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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P78363: Variant p.Arg1843Trp

Retinal-specific phospholipid-transporting ATPase ABCA4
Gene: ABCA4
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Variant information Variant position: help 1843 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 Tryptophan (W) at position 1843 (R1843W, p.Arg1843Trp). 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 large size and aromatic (W) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -3 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; likely pathogenic; does not affect solubility; does not affect location in cytoplasmic vesicle; decreased basal and N-Ret-PE-stimulated ATPase activity between 50% and 70% of wild-type values; does not affect N-all-trans-retinylidenephosphatidylethanolamine binding. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 1843 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 LRFNAVLRKLLIVFPHFCLG R GLIDLALSQAVTDVYARFGE 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                         LRFNAVLRKLLIVF----PHFCLGRGLIDLALSQAVTDVYARFGE

Mouse                         LRFNAMLRKLLIVF----PHFCLGRGLIDLALSQAVTDVYA

Bovine                        LRINAMLRKLLIIF----PHFCLGRGLIDLALSQAVTDVYA

Slime mold                    ISFQFLTDIIEYCFYAISPFFCFSKILAIVTKFPGVSRVDQ
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
Transmembrane 1832 – 1852 Helical
Mutagenesis 1838 – 1838 H -> R. Severely decreases solubility. Loss of cytoplasmic vesicle localization. Decreases basal ATPase activity below 50%. Severe decrease of N-Ret-PE-induced stimulation in ATPase activity. Decreased N-all-trans-retinylidenephosphatidylethanolamine binding.
Helix 1837 – 1860



Literature citations
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; Functional Characterization of ABCA4 Missense Variants Linked to Stargardt Macular Degeneration.
Garces F.A.; Scortecci J.F.; Molday R.S.;
Int. J. Mol. Sci. 22:0-0(2020)
Cited for: CHARACTERIZATION OF VARIANTS STGD1 CYS-653; HIS-653; ARG-661; SER-686; VAL-690; MET-716; TYR-764; ARG-765; ASN-765; ASP-767; PRO-797; GLU-818; ARG-821; THR-824; ARG-840; ALA-849; ASP-851; THR-854; LEU-1380; LYS-1399; ASN-1696; GLU-1703; LYS-1703; LEU-1705; VAL-1773; ASP-1794; PRO-1794; ASP-1805; ASN-1838; ASP-1838; TYR-1838; TRP-1843 AND HIS-1898; CHARACTERIZATION OF VARIANTS HIS-846; GLU-1773; ILE-1868 AND CYS-1898; MUTAGENESIS OF GLN-1703 AND HIS-1838; FUNCTION; CATALYTIC ACTIVITY; SUBCELLULAR LOCATION;
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.