Variant position: 310 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:
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 QYLVLEELIDMNQHHLN-ALG VGHASLDQLCQVTRARGL-HSK
Mouse QYLVLEELIDMNQHHLN-ALG VGHNSLDQLCQVTAAHGL-H
Rat QYLVLEELMDMNQHHLN-ALG VGHASLDQLCQVTAAHGL-H
Bovine HYLTLEELIDMNQHHLN-ALG VGHASLDQLCQVTTAHGL-H
Slime mold LQQTMDLMFDMNQHLLSGCYG VGHSSIDTIVSITKSLGF-H
Baker's yeast LYEQLLELIRINHGLLV-SIG VSHPGLELIKNLSDDLRIGS
Fission yeast --KKLGEFIVLNQKLLE-CLG VSHYSIDRVLQATKSIGW--
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
1 – 396 Mevalonate kinase
296 – 296 E -> Q. No change in protein stability. No effect on kinase activity.
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;
Identification and characterization of three novel missense mutations in mevalonate kinase cDNA causing mevalonic aciduria, a disorder of isoprene biosynthesis.
Houten S.M.; Romeijn G.J.; Koster J.; Gray R.G.F.; Darbyshire P.; Smit G.P.A.; de Klerk J.B.C.; Duran R.; Gibson K.M.; Wanders R.J.A.; Waterham H.R.;
Hum. Mol. Genet. 8:1523-1528(1999)
Cited for: VARIANTS MEVA MET-310 AND THR-334;
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;
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.