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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P78363: Variant p.Gly851Asp

Retinal-specific phospholipid-transporting ATPase ABCA4
Gene: ABCA4
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Variant information Variant position: help 851
Type of variant: help LP/P [Disclaimer]
Residue change: help From Glycine (G) to Aspartate (D) at position 851 (G851D, p.Gly851Asp).
Physico-chemical properties: help Change from glycine (G) to medium size and acidic (D)
BLOSUM score: help -1
Variant description: help In STGD1; highly reduced ATP-binding capacity; severely decreases solubility; loss of cytoplasmic vesicle localization;decreases basal ATPase activity below 50%; loss of N-Ret-PE-induced stimulation in ATPase activity; very low substrate binding.
Other resources: help


Sequence information Variant position: help 851
Protein sequence length: help 2273
Location on the sequence: help GDEFSFLLSMQMMLLDAAVY G LLAWYLDQVFPGDYGTPLPW
Residue conservation: help 
Human                         GDEFSFLLSMQMMLLDAAVYGLLAWYLDQVFPGDYGTPLPW

Mouse                         GDEFSFLLSMKMMLLDAALYGLLAWYLDQVFPGDYGTPLPW

Bovine                        GDEFSFLMSMKMMLLDAALYGLLAWYLDQVFPGDYGTPLPW

Slime mold                    VNEYEII---GMLVFDIFLYILILWYLDNVITGEYGIPKKW
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 2273 Retinal-specific phospholipid-transporting ATPase ABCA4
Transmembrane 836 – 856 Helical
Disulfide bond 641 – 1490 Interchain
Helix 837 – 860



Literature citations
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: FUNCTION; SUBCELLULAR LOCATION; 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 HIS-1838;
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.