Sequence information
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:
SLKRSPALQILLTNTKVPRN
T RALVAGVRNRLLKFPEIVAP
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--KRSPALQILLTNTKVPRNT RALVAGVRNRL-LKFPEIVAP
Mouse S------L--KSLPSLQILLTNTKVPRST KALVAAVRSRL-
Rat S------L--KRLPALQILLTNTKVPRST KALVAGVRSRL-
Bovine S------L--KRPPVLKILLINTKVPRST KVLVANVRSRL-
Slime mold K------ILENGIPPLRILITNTRVSRST KTLVEGVIQRS-
Baker's yeast T-NNFKFL--DDFPAIPMILTYTRIPRST KDLVARVRVLVT
Fission yeast QSAMKEFL--KPKDTLSVMITDTKQPKST KKLVQGVFELK-
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
Mutagenesis
243 – 243
T -> A. Modest changes in KM for ATP. 40-fold increase in KM for mevalonate. Approximately 2-fold decrease in Vmax.
Helix
243 – 256
Literature citations
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;
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.