Sequence information
Variant position: 64 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:
LWVLGPIYLLFIHHHGRGYL
R MSPLFKAKMVLGFALIVLCT
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 LWVLGPIYLLFIHHHGRGYLR MSPLFKAKMVLGFALIVLCT
Mouse LWVLGPIYLLYIHRHGRCYLR MSHLFKTKMVLGLALILLYT
Rat LWVLGPIYLLYIHRHGCCYLR MSRLFKIKMVLGFALILLYT
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
53 – 72
Cytoplasmic
Literature citations
Expression of human MRP6, a homologue of the multidrug resistance protein gene MRP1, in tissues and cancer cells.
Kool M.; van der Linden M.; de Haas M.; Baas F.; Borst P.;
Cancer Res. 59:175-182(1999)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); VARIANTS TRP-64 AND VAL-848;
Genome duplications and other features in 12 Mb of DNA sequence from human chromosome 16p and 16q.
Loftus B.J.; Kim U.-J.; Sneddon V.P.; Kalush F.; Brandon R.; Fuhrmann J.; Mason T.; Crosby M.L.; Barnstead M.; Cronin L.; Mays A.D.; Cao Y.; Xu R.X.; Kang H.-L.; Mitchell S.; Eichler E.E.; Harris P.C.; Venter J.C.; Adams M.D.;
Genomics 60:295-308(1999)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]; VARIANTS TRP-64 AND VAL-848;
Identification of two polymorphisms (c189G>C; c190T>C) in exon 2 of the human MRP6 gene (ABCC6) by screening of Pseudoxanthoma elasticum patients: possible sequence correction?
Germain D.P.; Perdu J.; Remones V.; Manzoni K.; Jeunemaitre X.;
Hum. Mutat. 16:449-449(2000)
Cited for: VARIANT TRP-64;
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.