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UniProtKB/Swiss-Prot P78363: Variant p.Glu2131Lys

Retinal-specific phospholipid-transporting ATPase ABCA4
Gene: ABCA4
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Variant information Variant position: help 2131
Type of variant: help US
Residue change: help From Glutamate (E) to Lysine (K) at position 2131 (E2131K, p.Glu2131Lys).
Physico-chemical properties: help Change from medium size and acidic (E) to large size and basic (K)
BLOSUM score: help 1
Variant description: help In STGD1; uncertain significance.
Other resources: help


Sequence information Variant position: help 2131
Protein sequence length: help 2273
Location on the sequence: help NVIVSIIREGRAVVLTSHSM E ECEALCTRLAIMVKGAFRCM
Residue conservation: help 
Human                         NVIVSIIREGRAVVLTSHSMEECEALCTRLAIMVKGAFRCM

Mouse                         NTIVSIIREGRAVVLTSHSMEECEALCTRLAIMVKGTFQCL

Bovine                        NTIMGIIREGRAVVLTSHSMEECEALCTRLAIMVKGAFQCL

Slime mold                    NVLME-LKKNKAIILTTHSIAECQAVCDKLTIMKDGKLQAL
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 2273 Retinal-specific phospholipid-transporting ATPase ABCA4
Topological domain 1895 – 2273 Cytoplasmic
Domain 1938 – 2170 ABC transporter 2
Beta strand 2131 – 2133



Literature citations
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;
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.