Results for the protein: Q9HCC0

Results for the Protein: Q9HCC0

20138731

64087

MCCC2

NCBI, UniProt

MCCB_HUMAN RecName: Full=Methylcrotonoyl-CoA carboxylase beta chain, mitochondrial; Short=MCCase subunit beta; AltName: Full=3-methylcrotonyl-CoA carboxylase 2; AltName: Full=3-methylcrotonyl-CoA carboxylase non-biotin-containing subunit; AltName: Full=3-methylcrotonyl-CoA:carbon dioxide ligase subunit beta; Flags: Precursor

Known Diseases associated with this Protein:
3-@METHYLCROTONYL-COA CARBOXYLASE 2 DEFICIENCY
METHYLCROTONOYL-COA CARBOXYLASE 2 DEFICIENCY (MCC2D)

20

1

8

0

13

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: COG4799 - COG4799 Carboxyl_trans - pfam01039	Swiss-Prot Protein: Q9HCC0 Identical to: NP_071415 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
Carboxyl_trans	pfam01039	3.2e-211	74	556

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_038630	Polymorphism	p.ALA478GLY	N/A
Swiss-Prot	VAR_012797	Disease	p.ALA218THR	Methylcrotonoyl-CoA carboxylase 2 deficiency (MCC2D)
Swiss-Prot	VAR_012796	Disease	p.ARG193CYS	Methylcrotonoyl-CoA carboxylase 2 deficiency (MCC2D)
Swiss-Prot	VAR_012793	Disease	p.ARG155GLN	Methylcrotonoyl-CoA carboxylase 2 deficiency (MCC2D)
Swiss-Prot	VAR_012798	Disease	p.ARG268THR	Methylcrotonoyl-CoA carboxylase 2 deficiency (MCC2D)
Swiss-Prot	VAR_067199	Disease	p.ASP280TYR	Methylcrotonoyl-CoA carboxylase 2 deficiency (MCC2D)
Swiss-Prot	VAR_012794	Disease	p.CYS167ARG	Methylcrotonoyl-CoA carboxylase 2 deficiency (MCC2D)
Swiss-Prot	VAR_012792	Disease	p.GLU99GLN	Methylcrotonoyl-CoA carboxylase 2 deficiency (MCC2D)
Swiss-Prot	VAR_012801	Disease	p.ILE437VAL	Methylcrotonoyl-CoA carboxylase 2 deficiency (MCC2D)
Swiss-Prot	VAR_012799	Disease	p.PRO310ARG	Methylcrotonoyl-CoA carboxylase 2 deficiency (MCC2D)
Swiss-Prot	VAR_067200	Disease	p.PRO459SER	Methylcrotonoyl-CoA carboxylase 2 deficiency (MCC2D)
Swiss-Prot	VAR_012795	Disease	p.SER173LEU	Methylcrotonoyl-CoA carboxylase 2 deficiency (MCC2D)
Swiss-Prot	VAR_012800	Disease	p.VAL339MET	Methylcrotonoyl-CoA carboxylase 2 deficiency (MCC2D)
OMIM	609014.0003	Disease	p.ARG155GLN	3-@METHYLCROTONYL-CoA CARBOXYLASE 2 DEFICIENCY
OMIM	609014.0006	Disease	p.ARG268THR	3-@METHYLCROTONYL-CoA CARBOXYLASE 2 DEFICIENCY
OMIM	609014.0009	Disease	p.ASP280TYR	3-@METHYLCROTONYL-CoA CARBOXYLASE 2 DEFICIENCY
OMIM	609014.0005	Disease	p.CYS167ARG	3-@METHYLCROTONYL-CoA CARBOXYLASE 2 DEFICIENCY
OMIM	609014.0002	Disease	p.GLU99GLN	3-@METHYLCROTONYL-CoA CARBOXYLASE 2 DEFICIENCY
OMIM	609014.0008	Disease	p.HIS190ARG	3-@METHYLCROTONYL-CoA CARBOXYLASE 2 DEFICIENCY
OMIM	609014.0007	Disease	p.ILE437VAL	3-@METHYLCROTONYL-CoA CARBOXYLASE 2 DEFICIENCY
OMIM	609014.0004	Disease	p.PRO310ARG	3-@METHYLCROTONYL-CoA CARBOXYLASE 2 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.

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