Results for the protein: NP

Results for the Protein: NP_001152980

226958414

3712

IVD

NCBI

isovaleryl-CoA dehydrogenase, mitochondrial isoform 2 precursor [Homo sapiens]

Known Diseases associated with this Protein:
ISOVALERIC ACIDEMIA
ISOVALERIC ACIDEMIA, TYPE I

4

0

4

0

0

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: VLCAD - cd01161 ACAD_fadE5 - cd01153 CaiA - COG1960 IVD - cd01156 ACAD_fadE6_17_26 - cd01152 Acyl-CoA_dh_N - pfam02771 GCD - cd01151 MCAD - cd01157 LCAD - cd01160 ACAD - cd00567 DszC - cd01163 AidB - cd01154 IBD - cd01162 SCAD_SBCAD - cd01158 ACAD_FadE2 - cd01155 Acyl-CoA_dh_M - pfam02770 Acyl-CoA_dh_1 - pfam00441 Acyl-CoA_dh_2 - pfam08028	RefSeq Protein: NP_001152980 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
ACAD_fadE5	cd01153	1.6e-15	4	386
CaiA	COG1960	2.7e-137	9	394
IVD	cd01156	3.7e-277	12	393
ACAD_fadE6_17_26	cd01152	6e-16	15	392
GCD	cd01151	8.7e-37	16	395
MCAD	cd01157	8e-70	19	394
LCAD	cd01160	3.7e-82	20	392
ACAD	cd00567	1.9e-143	22	389
DszC	cd01163	9.9e-05	30	381
AidB	cd01154	1.2e-08	32	393
IBD	cd01162	9.3e-54	45	394
SCAD_SBCAD	cd01158	1.6e-112	47	393
ACAD_FadE2	cd01155	2.6e-09	48	393
Acyl-CoA_dh_N	pfam02771	3.4e-28	15	130
Acyl-CoA_dh_M	pfam02770	1.9e-20	134	185
Acyl-CoA_dh_1	pfam00441	2e-52	243	392
Acyl-CoA_dh_2	pfam08028	2e-05	258	381

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
OMIM	607036.0007	Disease	p.ALA252VAL	ISOVALERIC ACIDEMIA
OMIM	607036.0006	Disease	p.ARG21CYS	ISOVALERIC ACIDEMIA
OMIM	607036.0002	Disease	p.GLY140VAL	ISOVALERIC ACIDEMIA, TYPE I
OMIM	607036.0001	Disease	p.LEU13PRO	ISOVALERIC ACIDEMIA, TYPE I

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