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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot O95255: Variant p.Arg1138Trp

ATP-binding cassette sub-family C member 6
Gene: ABCC6
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Variant information Variant position: help 1138
Type of variant: help LP/P [Disclaimer]
Residue change: help From Arginine (R) to Tryptophan (W) at position 1138 (R1138W, p.Arg1138Trp).
Physico-chemical properties: help Change from large size and basic (R) to large size and aromatic (W)
BLOSUM score: help -3
Variant description: help In PXE.
Other resources: help


Sequence information Variant position: help 1138
Protein sequence length: help 1503
Location on the sequence: help ASYSSVCSHMAETFQGSTVV R AFRTQAPFVAQNNARVDESQ
Residue conservation: help 
Human                         ASYSSVCSHMAETFQGSTVVRAFRTQAPFVAQNNARVDESQ

Mouse                         ARYSSVCSHMAETFQGSLVVRAFRAQASFTAQHDALMDENQ

Rat                           ASYSSVCSHLAETFQGSQVVRAFQAQGPFTAQHDALMDENQ
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 1503 ATP-binding cassette sub-family C member 6
Topological domain 1105 – 1175 Cytoplasmic
Domain 947 – 1228 ABC transmembrane type-1 2
Alternative sequence 100 – 1503 Missing. In isoform 2.
Alternative sequence 872 – 1503 Missing. In isoform 3.



Literature citations
Pseudoxanthoma elasticum: mutations in the MRP6 gene encoding a transmembrane ATP-binding cassette (ABC) transporter.
Ringpfeil F.; Lebwohl M.G.; Christiano A.M.; Uitto J.;
Proc. Natl. Acad. Sci. U.S.A. 97:6001-6006(2000)
Cited for: VARIANT PXE TRP-1138; VARIANT GLN-1268; Molecular genetics of pseudoxanthoma elasticum: type and frequency of mutations in ABCC6.
Miksch S.; Lumsden A.; Guenther U.P.; Foernzler D.; Christen-Zach S.; Daugherty C.; Ramesar R.K.; Lebwohl M.; Hohl D.; Neldner K.H.; Lindpaintner K.; Richards R.I.; Struk B.;
Hum. Mutat. 26:235-248(2005)
Cited for: VARIANTS PXE 60-ARG--TYR-62 DEL; GLU-129; ARG-317; ARG-355; ARG-364; ASP-370; GLY-391; GLY-398; HIS-495; GLN-518; SER-551; VAL-594; PRO-677; TRP-760; GLN-765; GLN-807; TRP-807; GLU-1056; PHE-1036 DEL; PHE-1048 DEL; CYS-1114; LEU-1121; GLN-1138; TRP-1138; GLN-1164; CYS-1221; TRP-1235; ARG-1302; PRO-1303; GLN-1314; CYS-1339; LEU-1339 AND TRP-1357; VARIANTS THR-78; LYS-125; VAL-158; GLY-265; GLU-281; VAL-319; ILE-514; ALA-614; GLN-632; LYS-724; VAL-742; ILE-946; TRP-1064 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.