Variant position: 344 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 359 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 RVTGADVPMPYAKILEDNSI PQVKDIIFAIKKTLNI--
Mouse RVTGADVPMPYAKVLEDNSV PQVKDIIFAVKKTLNI
Rat RVTGADVPMPYAKILEDNSI PQVKDIIFAIKKTLNI
Bovine RVTGADVPMPYAKILEDNSV PQVKDIIFAIKKTLNI
Caenorhabditis elegans RVTGVDVPMPYTQTLEAAAL PTAEHVVKAVKKSLNI
Slime mold RICGADVPMPYASNLENAAM VQTQNIVNAAKRVTQR
Baker's yeast RVTGADVPTPYAKELEDFAF PDTPTIVKAVKEVLSI
Fission yeast RVSMADVPMPYSHPVEAASV PNADVVVAAAKKCLYI
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
31 – 359 Pyruvate dehydrogenase E1 component subunit beta, mitochondrial
354 – 354 N6-acetyllysine
359 – 359 I -> A. Reduces pyruvate decarboxylase and multienzyme pyruvate dehydrogenase complex activity. Does not affect interaction with DLAT.
359 – 359 Missing. Reduces pyruvate decarboxylase and multienzyme pyruvate dehydrogenase complex activity. Does not affect interaction with DLAT.
Mutations in the gene for the E1beta subunit: a novel cause of pyruvate dehydrogenase deficiency.
Brown R.M.; Head R.A.; Boubriak I.I.; Leonard J.V.; Thomas N.H.; Brown G.K.;
Hum. Genet. 115:123-127(2004)
Cited for: VARIANTS PDHBD CYS-132 AND SER-344;
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