Sequence information
Variant position: 440 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:
LTESVLYLNGLWLPLVWIVV
C FVYLWQLLGPSALTAIAVFL
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 LTESVLYLNGLWLPLVWIVVC FVYLWQLLGPSALTAIAVFL
Mouse LAESIIYLNGLWLLFLWIFVC FVYLWQLLGPSALTAVAVFL
Rat LVESILHLNGLWLLFLWIIVC FVYLWQLLGPSALTAVAVFL
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
Transmembrane
427 – 447
Helical; Name=8
Domain
311 – 593
ABC transmembrane type-1 1
Alternative sequence
100 – 1503
Missing. In isoform 2.
Literature citations
ABCC6 mutations in Italian families affected by pseudoxanthoma elasticum (PXE).
Gheduzzi D.; Guidetti R.; Anzivino C.; Tarugi P.; Di Leo E.; Quaglino D.; Ronchetti I.P.;
Hum. Mutat. 24:438-439(2004)
Cited for: VARIANTS PXE ARG-364; LYS-411; GLY-440; GLN-518; CYS-600; MET-810; PRO-820; CYS-1114; MET-1130; GLN-1138; CYS-1339; SER-1346 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.