Expasy logo

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P78363: Variant p.Asn1805Asp

Retinal-specific phospholipid-transporting ATPase ABCA4
Gene: ABCA4
Feedback?
Variant information Variant position: help 1805
Type of variant: help LP/P [Disclaimer]
Residue change: help From Asparagine (N) to Aspartate (D) at position 1805 (N1805D, p.Asn1805Asp).
Physico-chemical properties: help Change from medium size and polar (N) to medium size and acidic (D)
BLOSUM score: help 1
Variant description: help In STGD1; does not affect solubility; does not affect location in cytoplasmic vesicle; decreases ATPase activity between 50% and 80%; decreases modestly N-Ret-PE-stimulated ATPase.
Other resources: help


Sequence information Variant position: help 1805
Protein sequence length: help 2273
Location on the sequence: help FDVPSTAYVALSCANLFIGI N SSAITFILELFENNRTLLRF
Residue conservation: help 
Human                         FDVPSTAYVALSCANLFIGINSSAITFILELFENNRTLLRF

Mouse                         FEVPSTAYVALSCANLFIGINSSAITFVLELFENNRTLLRF

Bovine                        FDIPSTAYVALSCANLFIGINSSAITFVLELFENNRTLLRI

Slime mold                    FSSHGKAVGAIFAIHFGVGLIFTVISFILRVWAIKENSISF
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 2273 Retinal-specific phospholipid-transporting ATPase ABCA4
Transmembrane 1793 – 1813 Helical
Helix 1788 – 1813



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; ASP-1799; ASP-1805; PRO-1940 AND HIS-2107; VARIANTS FFM MET-1253 AND PRO-1940; VARIANTS CORD3 CYS-212 AND ARG-2060; VARIANTS GLN-943; LEU-1948 AND ILE-2255; 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.