Expasy logo

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P78363: Variant p.Cys1488Phe

Retinal-specific phospholipid-transporting ATPase ABCA4
Gene: ABCA4
Feedback?
Variant information Variant position: help 1488
Type of variant: help LP/P [Disclaimer]
Residue change: help From Cysteine (C) to Phenylalanine (F) at position 1488 (C1488F, p.Cys1488Phe).
Physico-chemical properties: help Change from medium size and polar (C) to large size and aromatic (F)
BLOSUM score: help -2
Variant description: help In STGD1.
Other resources: help


Sequence information Variant position: help 1488
Protein sequence length: help 2273
Location on the sequence: help PNITQLFQKQKWTQVNPSPS C RCSTREKLTMLPECPEGAGG
Residue conservation: help 
Human                         PNITQLFQKQKWTQVNPSPSCRCSTREKLTMLPECPEGAGG

Mouse                         PNITHLFQKQKWTAAHPSPSCKCSTREKLTMLPECPEGAGG

Bovine                        PDVTHLLQQQKWTADQPSPSCRCSTREKLTMLPECPEGAGG

Slime mold                    ETMTSLFDNS------------IGHSDRTTLVPY-------
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 2273 Retinal-specific phospholipid-transporting ATPase ABCA4
Topological domain 1398 – 1727 Extracellular
Glycosylation 1469 – 1469 N-linked (GlcNAc...) asparagine
Disulfide bond 641 – 1490 Interchain
Disulfide bond 1488 – 1502
Mutagenesis 1502 – 1502 C -> R. Moderately decreased protein abundance. Moderately decreased ATPase activity. Moderately decreased phospholipid translocase activity.



Literature citations
An analysis of allelic variation in the ABCA4 gene.
Webster A.R.; Heon E.; Lotery A.J.; Vandenburgh K.; Casavant T.L.; Oh K.T.; Beck G.; Fishman G.A.; Lam B.L.; Levin A.; Heckenlively J.R.; Jacobson S.G.; Weleber R.G.; Sheffield V.C.; Stone E.M.;
Invest. Ophthalmol. Vis. Sci. 42:1179-1189(2001)
Cited for: REVIEW; VARIANTS STGD1 THR-192; CYS-220; TRP-333; TRP-607; LEU-873; ASN-971; ALA-1019; GLU-1031; PRO-1250; PHE-1488; ARG-1513; PRO-1525; ILE-1693; PRO-1736; GLU-1884; ASP-1896; PHE-2071; PRO-2229 AND LEU-2263; VARIANT THR-1314;
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.