Sequence information
Variant position: 268 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:
AGVRNRLLKFPEIVAPLLTS
I DAISLECERVLGEMGEAPAP
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 AGVRNRL-LKFPEIVAPLLTSI DAISLECERVLGEMGEAPAP
Mouse AAVRSRL-TKFPEIVAPLLTSI DAISLECERVLGEMVAAPV
Rat AGVRSRL-IKFPEIMAPLLTSI DAISLECERVLGEMAAAPV
Bovine ANVRSRL-LKFPEIVAPLLTSI DAISLECERVLGEMAAAPT
Slime mold EGVIQRS-KLYPTLIDPVSNLI DTISSQCIESFNQYHTDKD
Baker's yeast ARVRVLVTEKFPEVMKPILDAM GECALQGLEIMTKLSKCKG
Fission yeast QGVFELK-ERLPTVIDSIIDAI DGISKSAVLALTSESDKNS
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.
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;
Identification of a mutation cluster in mevalonate kinase deficiency, including a new mutation in a patient of Mennonite ancestry.
Hinson D.D.; Ross R.M.; Krisans S.; Shaw J.L.; Kozich V.; Rolland M.-O.; Divry P.; Mancini J.; Hoffmann G.F.; Gibson K.M.;
Am. J. Hum. Genet. 65:327-335(1999)
Cited for: VARIANTS MEVA ILE-243; PHE-264; PRO-265 AND THR-268;
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;
Mutations in the gene encoding mevalonate kinase cause hyper-IgD and periodic fever syndrome.
Drenth J.P.H.; Cuisset L.; Grateau G.; Vasseur C.; van der Velde-Visser S.D.; de Jong J.G.N.; Beckmann J.S.; van der Meer J.W.M.; Delpech M.;
Nat. Genet. 22:178-181(1999)
Cited for: VARIANTS HIDS LEU-167; 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;
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.