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Results for the Protein: P45954
1168283
36

ACDSB_HUMAN RecName: Full=Short/branched chain specific acyl-CoA dehydrogenase, mitochondrial; Short=SBCAD; AltName: Full=2-methyl branched chain acyl-CoA dehydrogenase; Short=2-MEBCAD; AltName: Full=2-methylbutyryl-coenzyme A dehydrogenase; Short=2-methylbutyryl-CoA dehydrogenase; Flags: Precursor

Known Diseases associated with this Protein:
  2-@METHYLBUTYRYL-COA DEHYDROGENASE DEFICIENCY
  SHORT/BRANCHED-CHAIN ACYL-COA DEHYDROGENASE DEFICIENCY (SBCADD)
4
5
3
3
3
Tips:
 The Domains on the Default View are decided by the Domain's E-Value.

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Default View:

VLCAD - cd01161
GCD - cd01151
CaiA - COG1960
IVD - cd01156
IBD - cd01162
AidB - cd01154
MCAD - cd01157
Acyl-CoA_dh_N - pfam02771
LCAD - cd01160
SCAD_SBCAD - cd01158
ACAD_fadE6_17_26 - cd01152
ACAD - cd00567
ACAD_fadE5 - cd01153
DszC - cd01163
NcnH - cd01159
ACAD_FadE2 - cd01155
Acyl-CoA_dh_M - pfam02770
Acyl-CoA_dh_1 - pfam00441
Acyl-CoA_dh_2 - pfam08028


Swiss-Prot Protein: P45954
Identical to: NP_001600
   Default View:



















Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
GCDcd011513.2e-4845424
CaiACOG19608.2e-14253431
IVDcd011562.3e-10256430
AidBcd011541.8e-0957426
MCADcd011572.7e-8957431
IBDcd011621.5e-8057431
ACADcd005677.5e-13759426
ACAD_fadE6_17_26cd011524.6e-1759430
SCAD_SBCADcd011584.4e-27159430
LCADcd011603.5e-8659429
ACAD_fadE5cd011531.8e-3164430
DszCcd011634.1e-0574411
NcnHcd011598.1e-0674430
ACAD_FadE2cd011559.9e-1287427
Acyl-CoA_dh_Npfam027712.5e-3258170
Acyl-CoA_dh_Mpfam027701.6e-21173224
Acyl-CoA_dh_1pfam004413.9e-64280429
Acyl-CoA_dh_2pfam080281.2e-29295418

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs12263012 Polymorphismp.ARG13LYSN/A
Swiss-ProtVAR_048179Polymorphismp.GLU376GLYN/A
dbSNPrs1140591 Polymorphismp.HIS213GLNN/A
dbSNPrs1131430 Polymorphismp.ILE316VALN/A
Swiss-ProtVAR_013010Diseasep.LEU255PHEShort/branched-chain acyl-CoA dehydrogenase deficiency (SBCADD)
Swiss-ProtVAR_014749Polymorphismp.SER209GLYN/A
OMIM600301.0005 Diseasep.GLU387LYS2-@METHYLBUTYRYL-CoA DEHYDROGENASE DEFICIENCY
OMIM600301.0002 Diseasep.LEU222PHE2-@METHYLBUTYRYL-CoA DEHYDROGENASE DEFICIENCY
OMIM600301.0004 Diseasep.THR148ILE2-@METHYLBUTYRYL-CoA DEHYDROGENASE DEFICIENCY



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