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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q03426: Variant p.Val132Ile

Mevalonate kinase
Gene: MVK
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Variant information Variant position: help 132
Type of variant: help LP/P [Disclaimer]
Residue change: help From Valine (V) to Isoleucine (I) at position 132 (V132I, p.Val132Ile).
Physico-chemical properties: help Similar physico-chemical property. Both residues are medium size and hydrophobic.
BLOSUM score: help 3
Variant description: help In HIDS.
Other resources: help


Sequence information Variant position: help 132
Protein sequence length: help 396
Location on the sequence: help FLYLYLSICRKQRALPSLDI V VWSELPPGAGLGSSAAYSVC
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 396 Mevalonate kinase
Active site 146 – 146 Proton donor
Binding site 135 – 135
Binding site 146 – 146
Mutagenesis 145 – 145 S -> A. Modest changes in KM for ATP. 20-fold increase in KM for mevalonate. Approximately 2-fold decrease in Vmax.
Mutagenesis 146 – 146 S -> A. Modest changes in KM for ATP. 20-fold increase in KM for mevalonate. 4000-fold decrease in Vmax.
Mutagenesis 149 – 149 Y -> A. No effect on kinase activity. Approximately 4- and 8-fold decrease affinities for ATP and mevalonate, respectively.
Beta strand 129 – 137



Literature citations
MVK mutations and associated clinical features in Italian patients affected with autoinflammatory disorders and recurrent fever.
D'Osualdo A.; Picco P.; Caroli F.; Gattorno M.; Giacchino R.; Fortini P.; Corona F.; Tommasini A.; Salvi G.; Specchia F.; Obici L.; Meini A.; Ricci A.; Seri M.; Ravazzolo R.; Martini A.; Ceccherini I.;
Eur. J. Hum. Genet. 13:314-320(2005)
Cited for: VARIANTS HIDS GLN-20; ILE-132; THR-148; ARG-171; GLU-211; GLN-215; ILE-250; ARG-265; THR-268; MET-310; VAL-376 AND ILE-377; VARIANTS ASN-52 AND MET-356;
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.