Results for the protein: Q96RQ3

Results for the Protein: Q96RQ3

108861983

56922

MCCC1

NCBI, UniProt

MCCA_HUMAN RecName: Full=Methylcrotonoyl-CoA carboxylase subunit alpha, mitochondrial; Short=MCCase subunit alpha; AltName: Full=3-methylcrotonyl-CoA carboxylase 1; AltName: Full=3-methylcrotonyl-CoA carboxylase biotin-containing subunit; AltName: Full=3-methylcrotonyl-CoA:carbon dioxide ligase subunit alpha; Flags: Precursor

Known Diseases associated with this Protein:
3-@METHYLCROTONYL-COA CARBOXYLASE 1 DEFICIENCY
METHYLCROTONOYL-COA CARBOXYLASE 1 DEFICIENCY (MCC1D)

15

2

7

1

9

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: PycA - COG1038 CarB - COG0458 COG4770 - COG4770 AccC - COG0439 CPSase_L_chain - pfam00289 DdlA - COG1181 RimK - pfam08443 CPSase_L_D2 - pfam02786 Dala_Dala_lig_C - pfam07478 ATP-grasp - pfam02222 Biotin_carb_C - smart00878 Biotin_carb_C - pfam02785 AccB - COG0511 lipoyl_domain - cd06849 biotinyl_domain - cd06850 Biotinyl_lipoyl_doma - cd06663 Biotin_lipoyl - pfam00364	Swiss-Prot Protein: Q96RQ3 Identical to: NP_064551 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
CarB	COG0458	5.3e-05	45	451
AccC	COG0439	4.3e-238	48	497
DdlA	COG1181	4.5e-06	72	364
AccB	COG0511	2.2e-07	583	716
lipoyl_domain	cd06849	2e-06	629	714
Biotinyl_lipoyl_doma	cd06663	1.8e-33	648	714
biotinyl_domain	cd06850	1.7e-28	648	714
COG4770	COG4770		48	716
CPSase_L_chain	pfam00289	3.8e-69	49	157
CPSase_L_D2	pfam02786	1.4e-101	163	371
ATP-grasp	pfam02222	1.5e-05	170	332
Biotin_carb_C	pfam02785	2.6e-56	383	490
Biotin_lipoyl	pfam00364	1.6e-17	650	714
RimK	pfam08443	0.00014	163	363
Dala_Dala_lig_C	pfam07478	1.2e-06	169	351
Biotin_carb_C	smart00878	2.8e-54	383	490

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_012785	Disease	p.ALA289VAL	Methylcrotonoyl-CoA carboxylase 1 deficiency (MCC1D)
Swiss-Prot	VAR_067198	Disease	p.ARG281GLN	Methylcrotonoyl-CoA carboxylase 1 deficiency (MCC1D)
Swiss-Prot	VAR_012787	Disease	p.ARG385SER	Methylcrotonoyl-CoA carboxylase 1 deficiency (MCC1D)
Swiss-Prot	VAR_038631	Polymorphism	p.ASN560THR	N/A
Swiss-Prot	VAR_012790	Disease	p.ASP532HIS	Methylcrotonoyl-CoA carboxylase 1 deficiency (MCC1D)
Swiss-Prot	VAR_067197	Disease	p.CYS276ARG	Methylcrotonoyl-CoA carboxylase 1 deficiency (MCC1D)
dbSNP	rs2270968	Polymorphism	p.HIS464PRO	N/A
Swiss-Prot	VAR_012788	Disease	p.LEU437PRO	Methylcrotonoyl-CoA carboxylase 1 deficiency (MCC1D)
Swiss-Prot	VAR_012786	Disease	p.MET325ARG	Methylcrotonoyl-CoA carboxylase 1 deficiency (MCC1D)
Swiss-Prot	VAR_012791	Disease	p.SER535PHE	Methylcrotonoyl-CoA carboxylase 1 deficiency (MCC1D)
OMIM	609010.0002	Disease	p.ARG385SER	3-@METHYLCROTONYL-CoA CARBOXYLASE 1 DEFICIENCY
OMIM	609010.0003	Disease	p.ASP532HIS	3-@METHYLCROTONYL-CoA CARBOXYLASE 1 DEFICIENCY
OMIM	609010.0007	Disease	p.ILE460MET	3-@METHYLCROTONYL-CoA CARBOXYLASE 1 DEFICIENCY
OMIM	609010.0004	Disease	p.LEU437PRO	3-@METHYLCROTONYL-CoA CARBOXYLASE 1 DEFICIENCY
OMIM	609010.0001	Disease	p.MET325ARG	3-@METHYLCROTONYL-CoA CARBOXYLASE 1 DEFICIENCY
OMIM	609010.0005	Disease	p.SER535PHE	3-@METHYLCROTONYL-CoA CARBOXYLASE 1 DEFICIENCY
OMIM	609010.0006	Disease	p.VAL694TER	3-@METHYLCROTONYL-CoA CARBOXYLASE 1 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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