Results for the protein: NP

Results for the Protein: NP_001166927

291084757

5160

PDHA1

NCBI

pyruvate dehydrogenase E1 component subunit alpha, somatic form, mitochondrial isoform 4 precursor [Homo sapiens]

Known Diseases associated with this Protein:
LEIGH SYNDROME, X-LINKED
PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY

10

1

10

1

0

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Default View:	RefSeq Protein: NP_001166927 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs2229137	Polymorphism	p.MET251LEU	N/A
OMIM	300502.0009	Disease	p.ARG233CYS	PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY
OMIM	300502.0022	Disease	p.ARG194GLY	LEIGH SYNDROME, X-LINKED
OMIM	300502.0020	Disease	p.ARG219HIS	PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY
OMIM	300502.0003	Disease	p.ARG309HIS	PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY
OMIM	300502.0017	Disease	p.ARG10PRO	PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY
OMIM	300502.0011	Disease	p.ASP189ALA	LEIGH SYNDROME, X-LINKED
OMIM	300502.0014	Disease	p.ASP246ASN	PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY
OMIM	300502.0015	Disease	p.MET213LEU	PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY
OMIM	300502.0012	Disease	p.PHE167LEU	PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY
OMIM	300502.0013	Disease	p.TYR174ASN	PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY

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