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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot O95255: Variant p.Val1298Phe

ATP-binding cassette sub-family C member 6
Gene: ABCC6
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Variant information Variant position: help 1298
Type of variant: help LP/P [Disclaimer]
Residue change: help From Valine (V) to Phenylalanine (F) at position 1298 (V1298F, p.Val1298Phe).
Physico-chemical properties: help Change from medium size and hydrophobic (V) to large size and aromatic (F)
BLOSUM score: help -1
Variant description: help In PXE; abolishes LTC4 and NEM-GS transport; does not affect plasma membrane localization; does not increase extracellular pyrophosphate levels.
Other resources: help


Sequence information Variant position: help 1298
Protein sequence length: help 1503
Location on the sequence: help LPLAVQGVSFKIHAGEKVGI V GRTGAGKSSLASGLLRLQEA
Residue conservation: help 
Human                         LPLAVQGVSFKIHAGEKVGIVGRTGAGKSSLASGLLRLQEA

Mouse                         LPLAVQGVSLKIHAGEKVGIVGRTGAGKSSLAWGLLRLQEA

Rat                           LPMAVQGVSLKIHAGEKVGIVGRTGAGKSSLTWGLLRLQEA
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 1503 ATP-binding cassette sub-family C member 6
Topological domain 1220 – 1503 Cytoplasmic
Domain 1265 – 1499 ABC transporter 2
Modified residue 1286 – 1286 Phosphoserine
Alternative sequence 100 – 1503 Missing. In isoform 2.
Alternative sequence 872 – 1503 Missing. In isoform 3.
Beta strand 1294 – 1298



Literature citations
Loss of ATP-dependent transport activity in pseudoxanthoma elasticum-associated mutants of human ABCC6 (MRP6).
Ilias A.; Urban Z.; Seidl T.L.; Le Saux O.; Sinko E.; Boyd C.D.; Sarkadi B.; Varadi A.;
J. Biol. Chem. 277:16860-16867(2002)
Cited for: FUNCTION; CHARACTERIZATION OF VARIANTS PXE PHE-1298; ARG-1302 AND SER-1321; CATALYTIC ACTIVITY; COFACTOR; BIOPHYSICOCHEMICAL PROPERTIES; ABCC6 prevents ectopic mineralization seen in pseudoxanthoma elasticum by inducing cellular nucleotide release.
Jansen R.S.; Kuecuekosmanoglu A.; de Haas M.; Sapthu S.; Otero J.A.; Hegman I.E.; Bergen A.A.; Gorgels T.G.; Borst P.; van de Wetering K.;
Proc. Natl. Acad. Sci. U.S.A. 110:20206-20211(2013)
Cited for: FUNCTION; CHARACTERIZATION OF VARIANT PXE PHE-1298; A spectrum of ABCC6 mutations is responsible for pseudoxanthoma elasticum.
Le Saux O.; Beck K.; Sachsinger C.; Silvestri C.; Treiber C.; Goering H.H.H.; Johnson E.W.; De Paepe A.; Pope F.M.; Pasquali-Ronchetti I.; Bercovitch L.; Terry S.; Boyd C.D.;
Am. J. Hum. Genet. 69:749-764(2001)
Cited for: VARIANTS PXE LYS-411; GLN-518; SER-568; PRO-673; GLN-765; PRO-1114; TRP-1121; PRO-1138; GLN-1138; ASP-1203; PHE-1298; ILE-1301; ARG-1302; PRO-1303; GLN-1314; TRP-1314; SER-1321; CYS-1339; HIS-1347; ASN-1361 AND THR-1424; VARIANTS ASP-61; ARG-207; GLY-265; GLU-281; VAL-319; LYS-497; ALA-614; GLN-632; HIS-953; CYS-1241 AND GLN-1268; Mutation detection in the ABCC6 gene and genotype-phenotype analysis in a large international case series affected by pseudoxanthoma elasticum.
Pfendner E.G.; Vanakker O.M.; Terry S.F.; Vourthis S.; McAndrew P.E.; McClain M.R.; Fratta S.; Marais A.S.; Hariri S.; Coucke P.J.; Ramsay M.; Viljoen D.; Terry P.F.; De Paepe A.; Uitto J.; Bercovitch L.G.;
J. Med. Genet. 44:621-628(2007)
Cited for: VARIANTS PXE 60-ARG--TYR-62 DEL; ARG-317; ARG-364; TRP-382; GLY-391; ASN-392; HIS-463; HIS-495; GLN-518; PRO-535; SER-568; CYS-600; CYS-663; PRO-698; ASP-699; PRO-726; LYS-751; ARG-755; TRP-760; GLN-765; ASN-777; MET-811; SER-881; ILE-944; THR-950; ARG-992; CYS-1114; MET-1130; ALA-1133; GLN-1138; TRP-1138; THR-1139; GLN-1164; CYS-1221; HIS-1221; ILE-1226; PHE-1298; ARG-1302; PRO-1303; GLN-1314; TRP-1314; GLN-1335; CYS-1339; HIS-1339 AND THR-1342;
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.