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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P78363: Variant p.Glu1036Lys

Retinal-specific phospholipid-transporting ATPase ABCA4
Gene: ABCA4
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Variant information Variant position: help 1036 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 Glutamate (E) to Lysine (K) at position 1036 (E1036K, p.Glu1036Lys). 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 acidic (E) to large size and basic (K) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 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: help In STGD1. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 1036 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 HHLTVAEHMLFYAQLKGKSQ E EAQLEMEAMLEDTGLHHKRN 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                         HHLTVAEHMLFYAQLKG-KSQEEAQLEMEAMLEDTGLHHKRN

Mouse                         HHLTVAEHILFYAQLKG-RSWEEAQLEMEAMLEDTGLHHKR

Bovine                        HHLTVAEHILFYAQLKG-RSWDKAQLEMEAMLEDTGLHHKR

Slime mold                    EQLTVMEHLEFYAALKGFTNSNQRKVEATKIALEVGLGEKL
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 1054 – 1054
Disulfide bond 641 – 1490 Interchain
Helix 1035 – 1043



Literature citations
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; Screening of ABCA4 Gene in a Chinese Cohort With Stargardt Disease or Cone-Rod Dystrophy With a Report on 85 Novel Mutations.
Jiang F.; Pan Z.; Xu K.; Tian L.; Xie Y.; Zhang X.; Chen J.; Dong B.; Li Y.;
Invest. Ophthalmol. Vis. Sci. 57:145-152(2016)
Cited for: VARIANTS STGD1 LYS-14; PRO-18; HIS-24; VAL-72; CYS-97; 185-GLN--ASP-2273 DEL; ARG-240; LEU-291; 326-TYR--ASP-2273 DEL; VAL-328; SER-345; THR-410; CYS-508; CYS-511; ARG-519; 533-GLN--ASP-2273 DEL; CYS-537; ARG-548; ARG-550; LEU-593; TRP-602; CYS-603; ARG-607; ASN-645; HIS-653; SER-754; 808-TYR--ASP-2273 DEL; VAL-816; SER-965; TYR-965; SER-973; MET-1019; GLY-1022; LYS-1036; LEU-1074; THR-1094; HIS-1108; LYS-1122; THR-1130; TRP-1140; SER-1159; HIS-1161; 1300-ARG--ASP-2273 DEL; ASN-1371; 1453-TYR--ASP-2273 DEL; LEU-1503; HIS-1511; MET-1526; ARG-1591; 1724-TRP--ASP-2273 DEL; VAL-1773; LEU-1776; TRP-1843; ILE-1868; LYS-1885; GLY-1921; MET-1921; ARG-1961; SER-1977; TYR-2017; THR-2023; 2030-ARG--ASP-2273 DEL; ARG-2032; TRP-2038; 2040-ARG--ASP-2273 DEL; GLN-2040; GLY-2042; THR-2064; GLU-2078; SER-2097; ARG-2150 AND SER-2188; VARIANTS ARG-423; TYR-1102; THR-1209; MET-1428; MET-1572; 1618-TRP--ASP-2273 DEL; VAL-1623; GLN-1640; 1652-TYR--ASP-2273 DEL AND ILE-2255; VARIANTS CORD3 53-GLU--ASP-2273 DEL; ARG-55; PRO-63; 107-ARG--ASP-2273 DEL; 218-GLN--ASP-2273 DEL; CYS-320; 339-TRP--ASP-2273 DEL; 605-TRP--ASP-2273 DEL; LYS-636; ARG-661; CYS-1183; CYS-1368; 1479-TRP--ASP-2273 DEL; 1650-GLU--ASP-2273 DEL; ILE-1882; SER-2043; HIS-2107 AND ASP-2146;
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.