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UniProtKB/Swiss-Prot P78363: Variant p.Cys1488Tyr

Retinal-specific phospholipid-transporting ATPase ABCA4
Gene: ABCA4
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Variant information Variant position: help 1488
Type of variant: help LP/P [Disclaimer]
Residue change: help From Cysteine (C) to Tyrosine (Y) at position 1488 (C1488Y, p.Cys1488Tyr).
Physico-chemical properties: help Change from medium size and polar (C) to large size and aromatic (Y)
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
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;
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.