Sequence information
Variant position: 41 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:
AVVHGKVALAVSLNLRTFLR
L QPHSNGKVDLSLPNIGIKRA
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 AVVHGKVALAVSLN-LRTFLRL QPHSN-GKVDLSLPNI-GIK-RA
Mouse AVVHGKVALAAALN-LRTFLLL RPQSN-GKVSVNLPNI-GI
Rat AVVHGKVALAVALN-LRTFLVL RPQSN-GKVSLNLPNV-GI
Bovine AVVHGKVALAVALN-LRTFLRL QPHSN-GRVGLNLPNI-GV
Slime mold AVVLEKTAIASALS-LRTTVTF TPNTN-NTLLLDFPDLAGF
Baker's yeast SAVYNKPAVAASVSALRTYLLI SESSAPDTIELDFPDI-SF
Fission yeast AVVYGATALAAAVS-LRSYCKL QTTNN-NEIVIVMSDI-GT
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
Binding site
55 – 55
ATP
Mutagenesis
56 – 56
I -> A. No effect on kinase activity. Approximately 4- and 5-fold decrease affinities for ATP and mevalonate, respectively.
Beta strand
28 – 43
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.