Sequence information
Variant position: 20 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:
MLSEVLLVSAPGKVILHGE
H AVVHGKVALAVSLNLRTFLR
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 MLSEVLLVSAPGKVILHGEH AVVHGKVALAVSLN-LRTFLR
Mouse MLSEALLVSAPGKVILHGEH AVVHGKVALAAALN-LRTFL
Rat MLSEVLLVSAPGKVILHGEH AVVHGKVALAVALN-LRTFL
Bovine MLSEVLLVSAPGKVILHGEH AVVHGKVALAVALN-LRTFL
Slime mold NQDNIIQVSAPGKIILFGEH AVVLEKTAIASALS-LRTTV
Baker's yeast -MSLPFLTSAPGKVIIFGEH SAVYNKPAVAASVSALRTYL
Fission yeast -MSKSLIVSSPGKTILFGEH AVVYGATALAAAVS-LRSYC
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
13 – 13
ATP
Mutagenesis
19 – 19
E -> D. No change in protein stability. Weak decrease in kinase activity. Approximately 2-fold decrease in Vmax. Approximately 2-fold decrease affinity for ATP and mevalonate.
Turn
19 – 21
Literature citations
Organization of the mevalonate kinase (MVK) gene and identification of novel mutations causing mevalonic aciduria and hyperimmunoglobulinaemia D and periodic fever syndrome.
Houten S.M.; Koster J.; Romeijn G.-J.; Frenkel J.; Di Rocco M.; Caruso U.; Landrieu P.; Kelley R.I.; Kuis W.; Poll-The B.T.; Gibson K.M.; Wanders R.J.A.; Waterham H.R.;
Eur. J. Hum. Genet. 9:253-259(2001)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS HIDS PRO-20; PRO-39; LEU-135; THR-148; THR-268 AND ILE-377; VARIANTS MEVA PRO-20; PHE-264; THR-268; MET-310 AND THR-334;
Mutations in MVK, encoding mevalonate kinase, cause hyperimmunoglobulinaemia D and periodic fever syndrome.
Houten S.M.; Kuis W.; Duran M.; de Koning T.J.; van Royen-Kerkhof A.; Romeijn G.J.; Frenkel J.; Dorland L.; de Barse M.M.J.; Huijbers W.A.R.; Rijkers G.T.; Waterham H.R.; Wanders R.J.A.; Poll-The B.T.;
Nat. Genet. 22:175-177(1999)
Cited for: VARIANTS HIDS PRO-20; THR-268 AND ILE-377;
Molecular analysis of MVK mutations and enzymatic activity in hyper-IgD and periodic fever syndrome.
Cuisset L.; Drenth J.P.H.; Simon A.; Vincent M.-F.; van der Velde-Visser S.D.; van der Meer J.W.M.; Grateau G.; Delpech M.;
Eur. J. Hum. Genet. 9:260-266(2001)
Cited for: VARIANTS HIDS ASN-20; PRO-20; PRO-39; LEU-150; LEU-167; ARG-202; GLN-215; THR-268; SER-309; ARG-326 AND ILE-377; VARIANT MEVA THR-334; VARIANT ASN-52;
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.