Results for the protein: P11310

Results for the Protein: P11310

113017

34

ACADM

NCBI, UniProt

ACADM_HUMAN RecName: Full=Medium-chain specific acyl-CoA dehydrogenase, mitochondrial; Short=MCAD; Flags: Precursor

Known Diseases associated with this Protein:
ACYL-COA DEHYDROGENASE MEDIUM-CHAIN DEFICIENCY (ACADMD)

19

1

0

0

20

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: Acyl-CoA_dh_2 - pfam08028	Swiss-Prot Protein: P11310 Identical to: NP_000007 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_000317	Disease	p.ARG53CYS	Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD)
Swiss-Prot	VAR_015957	Disease	p.ARG206LEU	Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD)
Swiss-Prot	VAR_013700	Disease	p.ARG281THR	Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD)
Swiss-Prot	VAR_000322	Disease	p.CYS244ARG	Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD)
Swiss-Prot	VAR_015955	Disease	p.CYS116TYR	Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD)
Swiss-Prot	VAR_000321	Disease	p.GLY195ARG	Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD)
Swiss-Prot	VAR_000323	Disease	p.GLY267ARG	Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD)
Swiss-Prot	VAR_015958	Disease	p.GLY310ARG	Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD)
Swiss-Prot	VAR_000327	Disease	p.ILE375THR	Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD)
Swiss-Prot	VAR_015954	Disease	p.ILE78THR	Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD)
Swiss-Prot	VAR_000325	Disease	p.LYS329GLU	Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD)
Swiss-Prot	VAR_000319	Disease	p.MET149ILE	Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD)
Swiss-Prot	VAR_000324	Disease	p.MET326THR	Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD)
Swiss-Prot	VAR_035716	Polymorphism	p.PRO132ARG	N/A
Swiss-Prot	VAR_000326	Disease	p.SER336ARG	Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD)
Swiss-Prot	VAR_013699	Disease	p.SER245LEU	Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD)
Swiss-Prot	VAR_000320	Disease	p.THR193ALA	Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD)
Swiss-Prot	VAR_015956	Disease	p.THR121ILE	Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD)
Swiss-Prot	VAR_015959	Disease	p.TYR352CYS	Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD)
Swiss-Prot	VAR_013698	Disease	p.TYR67HIS	Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD)

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.

DMDM_info@umbc.edu | 1000 Hilltop Circle, Baltimore, MD 21250 | Department of Biological Sciences | Phone: 410-455-2258