Results for the protein: Q16654

Results for the Protein: Q16654

3183120

5166

PDK4

NCBI, UniProt

PDK4_HUMAN RecName: Full=[Pyruvate dehydrogenase (acetyl-transferring)] kinase isozyme 4, mitochondrial; AltName: Full=Pyruvate dehydrogenase kinase isoform 4; Flags: Precursor

			0 3 0 0 3

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Default View: BaeS - COG0642 BCDHK_Adom3 - pfam10436 HATPase_c - smart00387 HATPase_c - pfam02518 HATPase_c - cd00075	Swiss-Prot Protein: Q16654 Identical to: NP_002603 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
HATPase_c	cd00075	3.7e-17	248	364
HATPase_c	pfam02518	3.7e-21	243	367
BCDHK_Adom3	pfam10436	2.2e-75	33	196
HATPase_c	smart00387	1e-18	243	367

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_042298	Polymorphism	p.ALA17VAL	N/A
Swiss-Prot	VAR_042300	Polymorphism	p.ASP109GLY	N/A
Swiss-Prot	VAR_042299	Polymorphism	p.LEU19MET	N/A

Please Cite: Peterson, T.A., Adadey, A., Santana-Cruz ,I., Sun, Y., Winder A, Kann, M.G., (2010) DMDM: Domain Mapping of Disease Mutations. Bioinformatics 26 (19), 2458-2459.

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