Variant position: 264 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 RALVAGVRNRL-LKFPEIVAP LLTSIDAISLECERVLGEMGE
Mouse KALVAAVRSRL-TKFPEIVAP LLTSIDAISLECERVLGEMV
Rat KALVAGVRSRL-IKFPEIMAP LLTSIDAISLECERVLGEMA
Bovine KVLVANVRSRL-LKFPEIVAP LLTSIDAISLECERVLGEMA
Slime mold KTLVEGVIQRS-KLYPTLIDP VSNLIDTISSQCIESFNQYH
Baker's yeast KDLVARVRVLVTEKFPEVMKP ILDAMGECALQGLEIMTKLS
Fission yeast KKLVQGVFELK-ERLPTVIDS IIDAIDGISKSAVLALTSES
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.
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;
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.