Results for the protein: P10515

Results for the Protein: P10515

215274207

1737

DLAT

NCBI, UniProt

ODP2_HUMAN RecName: Full=Dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex, mitochondrial; AltName: Full=70 kDa mitochondrial autoantigen of primary biliary cirrhosis; Short=PBC; AltName: Full=Dihydrolipoamide acetyltransferase component of pyruvate dehydrogenase complex; AltName: Full=M2 antigen complex 70 kDa subunit; AltName: Full=Pyruvate dehydrogenase complex component E2; Short=PDC-E2; Short=PDCE2; Flags: Precursor

Known Diseases associated with this Protein:
PYRUVATE DEHYDROGENASE E2 DEFICIENCY

1

7

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4

3

Tips:

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

Clicking a check box will display or hide the correlated domain.

To view the Gene page, either click on the link to the left or the blue bar above the Protein's graphic.

Default View: lipoyl_domain - cd06849 Biotin_lipoyl - pfam00364 Biotinyl_lipoyl_doma - cd06663 AceF - COG0508 biotinyl_domain - cd06850 E3_binding - pfam02817 2-oxoacid_dh - pfam00198	Swiss-Prot Protein: P10515 Identical to: NP_001922 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
Biotinyl_lipoyl_doma	cd06663	1.9e-21	93	166
AceF	COG0508	4.1e-149	217	647
lipoyl_domain	cd06849	3.1e-30	219	293
Biotinyl_lipoyl_doma	cd06663	4.4e-36	220	293
biotinyl_domain	cd06850	0.00085	225	293
Biotin_lipoyl	pfam00364	1.3e-13	92	166
Biotin_lipoyl	pfam00364	2.4e-16	219	293
E3_binding	pfam02817	1.6e-20	353	391
2-oxoacid_dh	pfam00198	1.5e-116	417	647

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs2303436	Polymorphism	p.ALA43VAL	N/A
dbSNP	rs10891314	Polymorphism	p.ASP451ASN	N/A
Swiss-Prot	VAR_047414	Polymorphism	p.ASP313VAL	N/A
dbSNP	rs11553595	Polymorphism	p.GLN209ARG	N/A
Swiss-Prot	VAR_047412	Polymorphism	p.LEU99PHE	N/A
Swiss-Prot	VAR_047411	Polymorphism	p.SER98PHE	N/A
dbSNP	rs627441	Polymorphism	p.VAL318ALA	N/A
OMIM	608770.0002	Disease	p.PHE576LEU	PYRUVATE DEHYDROGENASE E2 DEFICIENCY

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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