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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P78363: Variant p.Leu686Ser

Retinal-specific phospholipid-transporting ATPase ABCA4
Gene: ABCA4
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Variant information Variant position: help 686 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 Leucine (L) to Serine (S) at position 686 (L686S, p.Leu686Ser). 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 medium size and hydrophobic (L) to small size and polar (S) 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; pathogenic; severely decreases solubility; loss of cytoplasmic vesicle localization; severe decrease of basal and N-Ret-PE-stimulated ATPase activity; severely decreased 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 686 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 SVSMTVKSIVLEKELRLKET L KNQGVSNAVIWCTWFLDSFS 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                         SVSMTVKSIVLEKELRLKETLKNQGVSNAVIWCTWFLDSFS

Mouse                         SVSMTVKGIVLEKELRLKETLKNQGVSNAVIWCTWFLDSFS

Bovine                        SVSMTVKSIVLEKELRLKETLKNQGVSNRVIWCTWFLDSFS

Slime mold                    TLFTLITNIVIEKETKILEGMKTMGLNSFAYYISNSIISLI
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 668 – 699 Cytoplasmic
Disulfide bond 641 – 1490 Interchain
Helix 683 – 689



Literature citations
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; CYS-1108; ASP-1799; ASP-1805 AND PRO-1940; VARIANTS FFM MET-1253 AND PRO-1940; VARIANTS CORD3 CYS-212 AND ARG-2060; VARIANTS GLN-943; LEU-1948 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; 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.