Results for the protein: P35914

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
DRE_TIM_HOA	cd07943	4.4e-07	33	311
DRE_TIM_HCS	cd07948	5.1e-05	33	308
DRE_TIM_PC_TC_5S	cd07937	2.8e-06	35	316
DRE_TIM_HMGL	cd07938	5.8e-193	35	308
DRE_TIM_metallolyase	cd03174	5.8e-136	36	308
DRE_TIM_CMS	cd07945	0.00011	41	315
DRE_TIM_Re_CS	cd07947	2.7e-05	41	308
DRE_TIM_NifV	cd07939	4.6e-05	50	309
DRE_TIM_IPMS	cd07940	5.8e-09	52	308

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_065453	Disease	p.ARG165GLN	3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD)
Swiss-Prot	VAR_003744	Disease	p.ARG41GLN	3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD)
Swiss-Prot	VAR_058449	Disease	p.ASP204ASN	3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD)
Swiss-Prot	VAR_003745	Disease	p.ASP42GLU	3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD)
Swiss-Prot	VAR_003746	Disease	p.ASP42GLY	3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD)
Swiss-Prot	VAR_003747	Disease	p.ASP42HIS	3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD)
Swiss-Prot	VAR_058444	Disease	p.CYS174TYR	3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD)
Swiss-Prot	VAR_014202	Disease	p.GLU279LYS	3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD)
Swiss-Prot	VAR_058440	Disease	p.GLU37LYS	3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD)
Swiss-Prot	VAR_058448	Disease	p.GLY203GLU	3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD)
Swiss-Prot	VAR_003749	Disease	p.HIS233ARG	3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD)
Swiss-Prot	VAR_058446	Disease	p.ILE200PHE	3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD)
Swiss-Prot	VAR_058450	Disease	p.LEU263PRO	3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD)
Swiss-Prot	VAR_058441	Disease	p.LYS48ASN	3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD)
Swiss-Prot	VAR_058445	Disease	p.PHE192SER	3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD)
Swiss-Prot	VAR_058442	Disease	p.SER75ARG	3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD)
Swiss-Prot	VAR_058443	Disease	p.SER142PHE	3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD)
Swiss-Prot	VAR_058447	Disease	p.SER201TYR	3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD)
Swiss-Prot	VAR_003748	Disease	p.VAL70LEU	3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD)
OMIM	613898.0004	Disease	p.ARG41GLN	HMG-CoA LYASE DEFICIENCY
OMIM	613898.0005	Disease	p.GLU279LYS	HMG-CoA LYASE DEFICIENCY
OMIM	613898.0002	Disease	p.VAL70LEU	HMG-CoA LYASE 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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