Sequence information
Variant position: 723 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 842 The length of the canonical sequence.
Location on the sequence:
AGIHDAIMAFPEGYRTQVGE
R GLKLSGGEKQRVAIARTILK
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 AGIHDAIMAFPEGYRTQVGER GLKLSGGEKQRVAIARTILK
Mouse AGIHDAILSFPEGYETQVGER GLKLSGGEKQRVAIARTILK
Rat AGIHDAILSFPEGYETQVGER GLKLSGGEKQRVAIARTILK
Xenopus tropicalis ADIHERILSFRDGYDTQTGER GLKLSGGEKQRVAIARTILK
Slime mold AQILSFIESSPDGFRTVVGER GLRLSGGEKQRVSIARALLK
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 – 842
ATP-binding cassette sub-family B member 6, mitochondrial
Domain
590 – 824
ABC transporter
Literature citations
Familial pseudohyperkalemia in blood donors: a novel mutation with implications for transfusion practice.
Bawazir W.M.; Flatt J.F.; Wallis J.P.; Rendon A.; Cardigan R.A.; New H.V.; Wiltshire M.; Page L.; Chapman C.E.; Stewart G.W.; Bruce L.J.;
Transfusion 54:3043-3050(2014)
Cited for: INVOLVEMENT IN PSHK2; VARIANT PSHK2 GLN-723;
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.