Variant position: 301 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 EMGEAPAPE---------QYLVLEELIDM NQHHLN-ALGVGHASLDQLCQV
Mouse EMVAAPVPE---------QYLVLEELIDM NQHHLN-ALGVG
Rat EMAAAPVPE---------QYLVLEELMDM NQHHLN-ALGVG
Bovine EMAAAPTPE---------HYLTLEELIDM NQHHLN-ALGVG
Slime mold QYHTDKDYE--------KLQQTMDLMFDM NQHLLSGCYGVG
Baker's yeast KLSKCKGTDDEAVETNNELYEQLLELIRI NHGLLV-SIGVS
Fission yeast SESDKNSSA-----------KKLGEFIVL NQKLLE-CLGVS
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.
288 – 307
Molecular cloning of human mevalonate kinase and identification of a missense mutation in the genetic disease mevalonic aciduria.
Schafer B.L.; Bishop R.W.; Kratunis V.J.; Kalinowski S.S.; Mosley S.T.; Gibson K.M.; Tanaka R.D.;
J. Biol. Chem. 267:13229-13238(1992)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; VARIANT MEVA THR-301;
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