Variant position: 243 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 S------L--KRSPALQILLTNTKVPRN TRALVAGVRNRL-LKFPEIVAP
Mouse S------L--KSLPSLQILLTNTKVPRS TKALVAAVRSRL-
Rat S------L--KRLPALQILLTNTKVPRS TKALVAGVRSRL-
Bovine S------L--KRPPVLKILLINTKVPRS TKVLVANVRSRL-
Slime mold K------ILENGIPPLRILITNTRVSRS TKTLVEGVIQRS-
Baker's yeast T-NNFKFL--DDFPAIPMILTYTRIPRS TKDLVARVRVLVT
Fission yeast QSAMKEFL--KPKDTLSVMITDTKQPKS TKKLVQGVFELK-
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
243 – 243 T -> A. Modest changes in KM for ATP. 40-fold increase in KM for mevalonate. Approximately 2-fold decrease in Vmax.
243 – 256
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;
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