Sequence information
Variant position: 312 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 396 The length of the canonical sequence.
Location on the sequence:
LVLEELIDMNQHHLNALGVG
H ASLDQLCQVTRARGLHSKLT
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 LVLEELIDMNQHHLN-ALGVGH ASLDQLCQVTRARGL-HSKLT
Mouse LVLEELIDMNQHHLN-ALGVGH NSLDQLCQVTAAHGL-HSK
Rat LVLEELMDMNQHHLN-ALGVGH ASLDQLCQVTAAHGL-HSK
Bovine LTLEELIDMNQHHLN-ALGVGH ASLDQLCQVTTAHGL-HSK
Slime mold QTMDLMFDMNQHLLSGCYGVGH SSIDTIVSITKSLGF-HTK
Baker's yeast EQLLELIRINHGLLV-SIGVSH PGLELIKNLSDDLRIGSTK
Fission yeast KKLGEFIVLNQKLLE-CLGVSH YSIDRVLQATKSIGW--TK
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 – 396
Mevalonate kinase
Mutagenesis
296 – 296
E -> Q. No change in protein stability. No effect on kinase activity.
Literature citations
Exome sequencing identifies MVK mutations in disseminated superficial actinic porokeratosis.
Zhang S.Q.; Jiang T.; Li M.; Zhang X.; Ren Y.Q.; Wei S.C.; Sun L.D.; Cheng H.; Li Y.; Yin X.Y.; Hu Z.M.; Wang Z.Y.; Liu Y.; Guo B.R.; Tang H.Y.; Tang X.F.; Ding Y.T.; Wang J.B.; Li P.; Wu B.Y.; Wang W.; Yuan X.F.; Hou J.S.; Ha W.W.; Wang W.J.; Zhai Y.J.; Wang J.; Qian F.F.; Zhou F.S.; Chen G.; Zuo X.B.; Zheng X.D.; Sheng Y.J.; Gao J.P.; Liang B.; Li P.; Zhu J.; Xiao F.L.; Wang P.G.; Cui Y.; Li H.; Liu S.X.; Gao M.; Fan X.; Shen S.K.; Zeng M.; Sun G.Q.; Xu Y.; Hu J.C.; He T.T.; Li Y.R.; Yang H.M.; Wang J.; Yu Z.Y.; Zhang H.F.; Hu X.; Yang K.; Wang J.; Zhao S.X.; Zhou Y.W.; Liu J.J.; Du W.D.; Zhang L.; Xia K.; Yang S.; Wang J.; Zhang X.J.;
Nat. Genet. 44:1156-1160(2012)
Cited for: INVOLVEMENT IN POROK3; VARIANTS POROK3 ARG-12; PRO-41; ARG-202; PRO-255; PRO-279; ASP-291; ARG-312; SER-365 AND SER-376;
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.