Sequence information
Variant position: 1238 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1503 The length of the canonical sequence.
Location on the sequence:
WVVRNWTDLENSIVSVERMQ
D YAWTPKEAPWRLPTCAAQPP
The residue change on the sequence. Unless the variant is located at the beginning or at the end of the protein sequence, both residues upstream (20) and downstream (20) of the variant will be shown.
Residue conservation: The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human WVVRNWTDLENSIVSVERMQD YAWTPKEAPWRLPTCAAQPP
Mouse WVVRSWTDLENSMVAVERVQD YARIPKEAPWRLPTCAAQPL
Rat WVVRSWTDLENSMVAVERVQD YVHTPKEAPWRLPSSAAQPL
Sequence annotation in neighborhood: The regions or sites of interest surrounding the variant. In general the features listed are posttranslational modifications, binding sites, enzyme active sites, local secondary structure or other characteristics reported in the cited references. The "Sequence annotation in neighborhood" lines have a fixed format:Type: the type of sequence feature. Positions: endpoints of the sequence feature. Description: contains additional information about the feature.
Type Positions Description
Chain
1 – 1503
Multidrug resistance-associated protein 6
Topological domain
1220 – 1503
Cytoplasmic
Alternative sequence
100 – 1503
Missing. In isoform 2.
Alternative sequence
872 – 1503
Missing. In isoform 3.
Literature citations
Novel ABCC6 mutations in pseudoxanthoma elasticum.
Chassaing N.; Martin L.; Mazereeuw J.; Barrie L.; Nizard S.; Bonafe J.L.; Calvas P.; Hovnanian A.;
J. Invest. Dermatol. 122:608-613(2004)
Cited for: VARIANTS PXE VAL-74 DEL; 363-GLN--ARG-373 DEL; GLY-391; GLN-518; ASP-766; MET-1130; GLN-1138 HIS-1238; PRO-1335 AND LYS-1400;
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.