Results for the protein: P43304

Results for the Protein: P43304

229462943

2820

GPD2

NCBI, UniProt

GPDM_HUMAN RecName: Full=Glycerol-3-phosphate dehydrogenase, mitochondrial; Short=GPD-M; Short=GPDH-M; AltName: Full=mtGPD; Flags: Precursor

Known Diseases associated with this Protein:
DIABETES MELLITUS, TYPE II

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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: GlpA - COG0578 DadA - COG0665 COG0579 - COG0579 DAO - pfam01266 EFh - cd00051 EH - cd00052 EFh - smart00054 efhand - pfam00036	Swiss-Prot Protein: P43304 Identical to: NP_000399, NP_001076581 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
DadA	COG0665	1.6e-05	66	475
COG0579	COG0579	0.00066	67	509
EFh	cd00051	7.6e-18	627	689
EH	cd00052	0.0004	628	696
DAO	pfam01266	1.2e-58	71	441
efhand	pfam00036	1e-05	663	691
EFh	smart00054	3.5e-06	663	691

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs2116665	Polymorphism	p.ARG264HIS	N/A
Swiss-Prot	VAR_025215	Polymorphism	p.ARG525HIS	N/A
dbSNP	rs35096779	Polymorphism	p.LYS453GLN	N/A
OMIM	138430.0001	Disease	p.PHE635SER	DIABETES MELLITUS, TYPE II

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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