Sequence information
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:
EMGEAPAPEQYLVLEELIDM
N QHHLNALGVGHASLDQLCQV
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---------QYLVLEELIDMN QHHLN-ALGVGHASLDQLCQV
Mouse EMVAAPVPE---------QYLVLEELIDMN QHHLN-ALGVG
Rat EMAAAPVPE---------QYLVLEELMDMN QHHLN-ALGVG
Bovine EMAAAPTPE---------HYLTLEELIDMN QHHLN-ALGVG
Slime mold QYHTDKDYE--------KLQQTMDLMFDMN QHLLSGCYGVG
Baker's yeast KLSKCKGTDDEAVETNNELYEQLLELIRIN HGLLV-SIGVS
Fission yeast SESDKNSSA-----------KKLGEFIVLN QKLLE-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
Chain
1 – 396
Mevalonate kinase
Mutagenesis
296 – 296
E -> Q. No change in protein stability. No effect on kinase activity.
Helix
288 – 307
Literature citations
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;
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.