Results for the protein: Q8NCN5

Results for the Protein: Q8NCN5

182668644

55066

PDPR

NCBI, UniProt

PDPR_HUMAN RecName: Full=Pyruvate dehydrogenase phosphatase regulatory subunit, mitochondrial; Short=PDPr; Flags: Precursor

			0 7 0 6 1

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The Domains on the Default View are decided by the Domain's E-Value.

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Default View: GlpA - COG0578 DadA - COG0665 COG0579 - COG0579 DAO - pfam01266 GcvT - COG0404 GCV_T - pfam01571 GCV_T_C - pfam08669	Swiss-Prot Protein: Q8NCN5 Identical to: NP_060460 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
DadA	COG0665	6.9e-73	39	426
COG0579	COG0579	1.5e-06	40	457
GcvT	COG0404	1.6e-75	453	871
DAO	pfam01266	1.1e-85	44	402
GCV_T	pfam01571	7.9e-68	523	741
GCV_T_C	pfam08669	4.6e-30	747	856

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs142218067	Polymorphism	p.ARG427CYS	N/A
dbSNP	rs2549566	Polymorphism	p.LYS531GLU	N/A
dbSNP	rs200469748	Polymorphism	p.THR29ALA	N/A
Swiss-Prot	VAR_042504	Polymorphism	p.TYR109HIS	N/A
dbSNP	rs2549532	Polymorphism	p.TYR110HIS	N/A
dbSNP	rs200566106	Polymorphism	p.TYR640PHE	N/A
dbSNP	rs59034887	Polymorphism	p.VAL375LEU	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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