Results for the protein: P16219

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
GCD	cd01151	1.2e-64	19	410
CaiA	COG1960	3.8e-160	30	410
IVD	cd01156	2.6e-120	33	408
AidB	cd01154	1.7e-11	34	408
MCAD	cd01157	9.4e-102	34	409
IBD	cd01162	1.3e-94	34	409
ACAD	cd00567	2.9e-154	36	404
ACAD_fadE6_17_26	cd01152	9.9e-28	36	408
ACAD_FadE2	cd01155	3.1e-18	36	408
SCAD_SBCAD	cd01158	1e-277	36	408
LCAD	cd01160	2.1e-92	36	407
ACAD_fadE5	cd01153	3.4e-42	41	408
NcnH	cd01159	3.4e-06	43	408
DszC	cd01163	2.5e-08	43	388
Acyl-CoA_dh_N	pfam02771	1.6e-48	35	147
Acyl-CoA_dh_M	pfam02770	1.7e-20	151	202
Acyl-CoA_dh_1	pfam00441	2.7e-66	258	407
Acyl-CoA_dh_2	pfam08028	5.9e-23	273	396

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_013568	Disease	p.ALA192VAL	Acyl-CoA dehydrogenase short-chain deficiency (ACADSD)
Swiss-Prot	VAR_000312	Disease	p.ARG107CYS	Acyl-CoA dehydrogenase short-chain deficiency (ACADSD)
Swiss-Prot	VAR_000316	Disease	p.ARG383CYS	Acyl-CoA dehydrogenase short-chain deficiency (ACADSD)
dbSNP	rs35233375	Polymorphism	p.ARG383HIS	N/A
Swiss-Prot	VAR_013567	Polymorphism	p.ARG171TRP	N/A
Swiss-Prot	VAR_013569	Disease	p.ARG325TRP	Acyl-CoA dehydrogenase short-chain deficiency (ACADSD)
Swiss-Prot	VAR_013571	Disease	p.ARG380TRP	Acyl-CoA dehydrogenase short-chain deficiency (ACADSD)
Swiss-Prot	VAR_000310	Disease	p.ARG46TRP	Acyl-CoA dehydrogenase short-chain deficiency (ACADSD)
Swiss-Prot	VAR_000311	Disease	p.GLY92CYS	Acyl-CoA dehydrogenase short-chain deficiency (ACADSD)
dbSNP	rs1799958	Polymorphism	p.GLY209SER	N/A
Swiss-Prot	VAR_013565	Disease	p.GLY90SER	Acyl-CoA dehydrogenase short-chain deficiency (ACADSD)
Swiss-Prot	VAR_013570	Disease	p.SER353LEU	Acyl-CoA dehydrogenase short-chain deficiency (ACADSD)
Swiss-Prot	VAR_000314	Disease	p.TRP177ARG	Acyl-CoA dehydrogenase short-chain deficiency (ACADSD)
OMIM	606885.0010	Disease	p.ALA168VAL	SCAD DEFICIENCY
OMIM	606885.0002	Disease	p.ARG107CYS	SCAD DEFICIENCY
OMIM	606885.0005	Disease	p.ARG359CYS	SCAD DEFICIENCY
OMIM	606885.0006	Disease	p.ARG147TRP	SCAD DEFICIENCY
OMIM	606885.0011	Disease	p.ARG301TRP	SCAD DEFICIENCY
OMIM	606885.0013	Disease	p.ARG356TRP	SCAD DEFICIENCY
OMIM	606885.0001	Disease	p.ARG46TRP	SCAD DEFICIENCY
OMIM	606885.0015	Disease	p.GLU344GLY	SCAD DEFICIENCY, MILD
OMIM	606885.0016	Disease	p.GLY108ASP	SCAD DEFICIENCY, MILD
OMIM	606885.0003	Disease	p.GLY68CYS	SCAD DEFICIENCY
OMIM	606885.0007	Disease	p.GLY185SER	SCAD DEFICIENCY
OMIM	606885.0008	Disease	p.GLY66SER	SCAD DEFICIENCY
OMIM	606885.0014	Disease	p.PRO55LEU	SCAD DEFICIENCY, MILD
OMIM	606885.0012	Disease	p.SER329LEU	SCAD DEFICIENCY
OMIM	606885.0004	Disease	p.TRP153ARG	SCAD 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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