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Results for the Protein: P49748
1703068
37

ACADV_HUMAN RecName: Full=Very long-chain specific acyl-CoA dehydrogenase, mitochondrial; Short=VLCAD; Flags: Precursor

Known Diseases associated with this Protein:
  ACYL-COA DEHYDROGENASE VERY LONG-CHAIN DEFICIENCY (ACADVLD)
  VLCAD DEFICIENCY
46
5
9
3
39
Tips:
 The Domains on the Default View are decided by the Domain's E-Value.

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 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
GCD - cd01151
AidB - cd01154
AXO - cd01150
IVD - cd01156
ACAD_fadE5 - cd01153
MCAD - cd01157
IBD - cd01162
Acyl-CoA_dh_N - pfam02771
SCAD_SBCAD - cd01158
ACAD_fadE6_17_26 - cd01152
CaiA - COG1960
ACAD_FadE2 - cd01155
ACAD - cd00567
LCAD - cd01160
DszC - cd01163
Acyl-CoA_dh_M - pfam02770
Acyl-CoA_dh_1 - pfam00441
Acyl-CoA_dh_2 - pfam08028


Swiss-Prot Protein: P49748
Identical to: NP_000009
   Default View:



















Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
VLCADcd0116172481
GCDcd011519.7e-2977477
AidBcd011546.1e-0978473
AXOcd011500.000280639
ACAD_fadE5cd011531.3e-1893473
IVDcd011561.3e-7293478
MCADcd011576.5e-6294480
IBDcd011629.4e-4794480
ACAD_fadE6_17_26cd011522.4e-1496475
SCAD_SBCADcd011581.5e-10296480
CaiACOG19602e-12097481
ACADcd005671e-123100474
ACAD_FadE2cd011556.9e-12100456
LCADcd011607e-46107477
DszCcd011637e-05111466
Acyl-CoA_dh_Npfam027711.9e-2395209
Acyl-CoA_dh_Mpfam027701e-20213267
Acyl-CoA_dh_1pfam004412.6e-48327477
Acyl-CoA_dh_2pfam080282e-05342466

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_000341Diseasep.ALA281ASPAcyl-CoA dehydrogenase very long-chain deficiency (ACADVLD)
Swiss-ProtVAR_010101Diseasep.ALA213PROAcyl-CoA dehydrogenase very long-chain deficiency (ACADVLD)
Swiss-ProtVAR_010104Diseasep.ALA490PROAcyl-CoA dehydrogenase very long-chain deficiency (ACADVLD)
Swiss-ProtVAR_011990Polymorphismp.ALA359SERN/A
Swiss-ProtVAR_000349Diseasep.ARG366CYSAcyl-CoA dehydrogenase very long-chain deficiency (ACADVLD)
Swiss-ProtVAR_000356Diseasep.ARG453GLNAcyl-CoA dehydrogenase very long-chain deficiency (ACADVLD)
Swiss-ProtVAR_000361Diseasep.ARG469GLNAcyl-CoA dehydrogenase very long-chain deficiency (ACADVLD)
Swiss-ProtVAR_010106Diseasep.ARG615GLNAcyl-CoA dehydrogenase very long-chain deficiency (ACADVLD)
Swiss-ProtVAR_000350Diseasep.ARG366HISAcyl-CoA dehydrogenase very long-chain deficiency (ACADVLD)
Swiss-ProtVAR_000355Diseasep.ARG450HISAcyl-CoA dehydrogenase very long-chain deficiency (ACADVLD)
Swiss-ProtVAR_000358Diseasep.ARG456HISAcyl-CoA dehydrogenase very long-chain deficiency (ACADVLD)
Swiss-ProtVAR_000359Diseasep.ARG459TRPAcyl-CoA dehydrogenase very long-chain deficiency (ACADVLD)
Swiss-ProtVAR_000362Diseasep.ARG469TRPAcyl-CoA dehydrogenase very long-chain deficiency (ACADVLD)
Swiss-ProtVAR_000365Diseasep.ARG613TRPAcyl-CoA dehydrogenase very long-chain deficiency (ACADVLD)
Swiss-ProtVAR_000357Diseasep.ASP454ASNAcyl-CoA dehydrogenase very long-chain deficiency (ACADVLD)
Swiss-ProtVAR_000353Diseasep.ASP405HISAcyl-CoA dehydrogenase very long-chain deficiency (ACADVLD)
Swiss-ProtVAR_000333Diseasep.GLN159ARGAcyl-CoA dehydrogenase very long-chain deficiency (ACADVLD)
Swiss-ProtVAR_000336Diseasep.GLU218LYSAcyl-CoA dehydrogenase very long-chain deficiency (ACADVLD)
Swiss-ProtVAR_010105Diseasep.GLU534LYSAcyl-CoA dehydrogenase very long-chain deficiency (ACADVLD)
Swiss-ProtVAR_000343Diseasep.GLY290ASPAcyl-CoA dehydrogenase very long-chain deficiency (ACADVLD)
dbSNPrs2230178 Polymorphismp.GLY43ASPN/A
Swiss-ProtVAR_000354Diseasep.GLY441ASPAcyl-CoA dehydrogenase very long-chain deficiency (ACADVLD)
Swiss-ProtVAR_000344Diseasep.GLY294GLUAcyl-CoA dehydrogenase very long-chain deficiency (ACADVLD)
Swiss-ProtVAR_000360Diseasep.GLY463GLUAcyl-CoA dehydrogenase very long-chain deficiency (ACADVLD)
Swiss-ProtVAR_000335Diseasep.GLY185SERAcyl-CoA dehydrogenase very long-chain deficiency (ACADVLD)
Swiss-ProtVAR_000337Diseasep.LEU243ARGAcyl-CoA dehydrogenase very long-chain deficiency (ACADVLD)
Swiss-ProtVAR_000364Diseasep.LEU602ILEAcyl-CoA dehydrogenase very long-chain deficiency (ACADVLD)
dbSNPrs2230179 Polymorphismp.LEU17PHEN/A
Swiss-ProtVAR_000363Diseasep.LEU502PROAcyl-CoA dehydrogenase very long-chain deficiency (ACADVLD)
Swiss-ProtVAR_000345Diseasep.LYS299ASNAcyl-CoA dehydrogenase very long-chain deficiency (ACADVLD)
Swiss-ProtVAR_000352Diseasep.LYS382GLNAcyl-CoA dehydrogenase very long-chain deficiency (ACADVLD)
Swiss-ProtVAR_010102Diseasep.LYS247GLUAcyl-CoA dehydrogenase very long-chain deficiency (ACADVLD)
Swiss-ProtVAR_000338Diseasep.LYS247THRAcyl-CoA dehydrogenase very long-chain deficiency (ACADVLD)
Swiss-ProtVAR_000348Diseasep.MET352VALAcyl-CoA dehydrogenase very long-chain deficiency (ACADVLD)
Swiss-ProtVAR_010103Diseasep.PHE458LEUAcyl-CoA dehydrogenase very long-chain deficiency (ACADVLD)
dbSNPrs28934585 Polymorphismp.PRO65LEUN/A
Swiss-ProtVAR_011991Polymorphismp.SER623PHEN/A
Swiss-ProtVAR_000332Diseasep.THR158ASNAcyl-CoA dehydrogenase very long-chain deficiency (ACADVLD)
Swiss-ProtVAR_000339Diseasep.THR260METAcyl-CoA dehydrogenase very long-chain deficiency (ACADVLD)
Swiss-ProtVAR_000342Diseasep.VAL283ALAAcyl-CoA dehydrogenase very long-chain deficiency (ACADVLD)
Swiss-ProtVAR_000347Diseasep.VAL317ALAAcyl-CoA dehydrogenase very long-chain deficiency (ACADVLD)
Swiss-ProtVAR_000334Diseasep.VAL174METAcyl-CoA dehydrogenase very long-chain deficiency (ACADVLD)
OMIM609575.0013 Diseasep.ALA393THRVLCAD DEFICIENCY
OMIM609575.0010 Diseasep.ARG387HISVLCAD DEFICIENCY
OMIM609575.0014 Diseasep.ARG427HISVLCAD DEFICIENCY
OMIM609575.0003 Diseasep.ARG590TRPVLCAD DEFICIENCY
OMIM609575.0009 Diseasep.GLY378ASPVLCAD DEFICIENCY
OMIM609575.0011 Diseasep.LYS224GLNVLCAD DEFICIENCY
OMIM609575.0008 Diseasep.LYS359GLNVLCAD DEFICIENCY
OMIM609575.0012 Diseasep.PHE435LEUVLCAD DEFICIENCY
OMIM609575.0011 Diseasep.PRO42LEUVLCAD DEFICIENCY



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