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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q03426: Variant p.Leu41Pro

Mevalonate kinase
Gene: MVK
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Variant information Variant position: help 41
Type of variant: help LP/P [Disclaimer]
Residue change: help From Leucine (L) to Proline (P) at position 41 (L41P, p.Leu41Pro).
Physico-chemical properties: help Similar physico-chemical property. Both residues are medium size and hydrophobic.
BLOSUM score: help -3
Variant description: help In POROK3.
Other resources: help


Sequence information Variant position: help 41
Protein sequence length: help 396
Location on the sequence: help AVVHGKVALAVSLNLRTFLR L QPHSNGKVDLSLPNIGIKRA
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 396 Mevalonate kinase
Binding site 55 – 55
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.