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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot O95255: Variant p.Glu125Lys

ATP-binding cassette sub-family C member 6
Gene: ABCC6
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Variant information Variant position: help 125
Type of variant: help LP/P [Disclaimer]
Residue change: help From Glutamate (E) to Lysine (K) at position 125 (E125K, p.Glu125Lys).
Physico-chemical properties: help Change from medium size and acidic (E) to large size and basic (K)
BLOSUM score: help 1
Variant description: help In PXE; loss-of-function variant; localization comparable to wild-type.
Other resources: help


Sequence information Variant position: help 125
Protein sequence length: help 1503
Location on the sequence: help LIHPTVWLTTMSFAVFLIHT E RKKGVQSSGVLFGYWLLCFV
Residue conservation: help 
Human                         LIHPTVWLTTMSFAVFLIHTERKKGVQSSGVLFGYWLLCFV

Mouse                         LIHPTVWLTTMSFATFLIHMERRKGVRSSGVLFGYWLLCCI

Rat                           LIHPTVWLTTMSFATFLIHMERKKGVRASGLLFGYWLLCCL
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 1503 ATP-binding cassette sub-family C member 6
Topological domain 120 – 131 Cytoplasmic
Alternative sequence 100 – 1503 Missing. In isoform 2.



Literature citations
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; Genetic heterogeneity of pseudoxanthoma elasticum: the chinese signature profile of ABCC6 and ENPP1 mutations.
Jin L.; Jiang Q.; Wu Z.; Shao C.; Zhou Y.; Yang L.; Uitto J.; Wang G.;
J. Invest. Dermatol. 135:1294-1302(2015)
Cited for: VARIANTS PXE THR-78 AND LYS-125; VARIANTS HIS-4; GLU-9; SER-21; GLN-64; THR-90; GLN-419; PRO-605; GLY-709; THR-834; PRO-948 AND THR-1442; CHARACTERIZATION OF VARIANTS HIS-4; GLU-9; SER-21; GLN-64; THR-90; GLN-419; PRO-605; GLY-709; THR-834; PRO-948 AND THR-1442; CHARACTERIZATION OF VARIANTS PXE THR-78 AND LYS-125;
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.