Variant position: 378 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 390 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 EPPLEE--LGYHIY-SSDPPFEV RGA---NQW-IKFKSVS---------
Chimpanzee EPPLEE--LGYHIY-SSDPPFEV RGA---NQW-
Mouse EPPLEE--LGYHIY-SSDPPFEV RGA---NQW-
Rat EPPLEE--LGYHIY-SSDPPFEV RGA---NQW-
Bovine EPPLEE--LGYHIY-CNDPPFEV RGA---NQW-
Caenorhabditis elegans VLPPEA--LYADIY-HNTPAQEI RGATIDETIV
Slime mold LPQARE--LFTNVYLQEVP---V RGVEFVNS--
Baker's yeast PPEAKLSILFEDVYVKGTETPTL RGRIPEDTW-
Fission yeast FPDPIEESLFSDVYVAGTEPAYA RGRNSLEYH-
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
30 – 390 Pyruvate dehydrogenase E1 component subunit alpha, somatic form, mitochondrial
385 – 385 N6-succinyllysine
375 – 378
Characterization of the mutations in three patients with pyruvate dehydrogenase E1 alpha deficiency.
Hansen L.L.; Brown G.K.; Kirby D.M.; Dahl H.-H.M.;
J. Inherit. Metab. Dis. 14:140-151(1991)
Cited for: VARIANTS PDHAD LYS-313 DEL AND HIS-378;
Pyruvate dehydrogenase deficiency. Clinical presentation and molecular genetic characterization of five new patients.
Matthews P.M.; Brown R.M.; Otero L.J.; Marchington D.R.; LeGris M.; Howes R.; Meadows L.S.; Shevell M.; Scriver C.R.; Brown G.K.;
Cited for: VARIANTS PDHAD ASN-243; ASN-315 AND HIS-378; VARIANT LEU-282;
Mutations in the X-linked E1 alpha subunit of pyruvate dehydrogenase: exon skipping, insertion of duplicate sequence, and missense mutations leading to the deficiency of the pyruvate dehydrogenase complex.
Chun K.; MacKay N.; Petrova-Benedict R.; Federico A.; Fois A.; Cole D.E.C.; Robertson E.; Robinson B.H.;
Am. J. Hum. Genet. 56:558-569(1995)
Cited for: VARIANTS PDHAD CYS-72; LEU-205; GLY-263; ARG-311 DEL AND HIS-378;
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.