Results for the protein: Q96HY7

Results for the Protein: Q96HY7

296434477

55526

DHTKD1

NCBI, UniProt

DHTK1_HUMAN RecName: Full=Probable 2-oxoglutarate dehydrogenase E1 component DHKTD1, mitochondrial; AltName: Full=Dehydrogenase E1 and transketolase domain-containing protein 1; Flags: Precursor

Known Diseases associated with this Protein:
2-AMINOADIPIC 2-OXOADIPIC ACIDURIA (AMOXAD)

1

5

0

0

6

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: SucA - COG0567 TPP_E1_PDC_ADC_BCADC - cd02000 TPP_E1_OGDC_like - cd02016 E1_dh - pfam00676 Transket_pyr - pfam02779 Transket_pyr - smart00861	Swiss-Prot Protein: Q96HY7 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
TPP_E1_PDC_ADC_BCADC	cd02000	8.1e-05	166	495
TPP_E1_OGDC_like	cd02016	2e-188	176	449
E1_dh	pfam00676	1.4e-24	193	504
Transket_pyr	pfam02779	3.9e-69	567	773
Transket_pyr	smart00861	1e-63	570	812

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_036717	Polymorphism	p.ARG308LEU	N/A
Swiss-Prot	VAR_036718	Polymorphism	p.ASN350ASP	N/A
Swiss-Prot	VAR_069585	Disease	p.GLY729ARG	2-aminoadipic 2-oxoadipic aciduria (AMOXAD)
Swiss-Prot	VAR_036719	Polymorphism	p.ILE607MET	N/A
Swiss-Prot	VAR_036715	Polymorphism	p.PHE20LEU	N/A
Swiss-Prot	VAR_036716	Polymorphism	p.TYR272ASP	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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