Results for the protein: Q92947

Results for the Protein: Q92947

2492631

2639

GCDH

NCBI, UniProt

GCDH_HUMAN RecName: Full=Glutaryl-CoA dehydrogenase, mitochondrial; Short=GCD; Flags: Precursor

Known Diseases associated with this Protein:
GLUTARIC ACIDEMIA I
GLUTARIC ACIDURIA 1 (GA1)

64

2

8

0

58

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Default View: Acyl-CoA_dh_2 - pfam08028	Swiss-Prot Protein: Q92947 Identical to: NP_000150 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_000422	Disease	p.ALA433GLU	Glutaric aciduria 1 (GA1)
Swiss-Prot	VAR_000379	Disease	p.ALA195THR	Glutaric aciduria 1 (GA1)
Swiss-Prot	VAR_000387	Disease	p.ALA293THR	Glutaric aciduria 1 (GA1)
Swiss-Prot	VAR_000390	Polymorphism	p.ALA298THR	N/A
Swiss-Prot	VAR_000397	Disease	p.ALA349THR	Glutaric aciduria 1 (GA1)
Swiss-Prot	VAR_000404	Disease	p.ALA382THR	Glutaric aciduria 1 (GA1)
Swiss-Prot	VAR_000419	Disease	p.ALA421THR	Glutaric aciduria 1 (GA1)
Swiss-Prot	VAR_000370	Disease	p.ALA122VAL	Glutaric aciduria 1 (GA1)
Swiss-Prot	VAR_000391	Polymorphism	p.ALA298VAL	N/A
Swiss-Prot	VAR_000420	Disease	p.ALA421VAL	Glutaric aciduria 1 (GA1)
Swiss-Prot	VAR_000400	Disease	p.ARG355CYS	Glutaric aciduria 1 (GA1)
Swiss-Prot	VAR_000405	Disease	p.ARG383CYS	Glutaric aciduria 1 (GA1)
Swiss-Prot	VAR_000366	Disease	p.ARG88CYS	Glutaric aciduria 1 (GA1)
Swiss-Prot	VAR_000375	Disease	p.ARG161GLN	Glutaric aciduria 1 (GA1)
Swiss-Prot	VAR_000382	Disease	p.ARG257GLN	Glutaric aciduria 1 (GA1)
Swiss-Prot	VAR_000407	Disease	p.ARG386GLN	Glutaric aciduria 1 (GA1)
Swiss-Prot	VAR_000413	Disease	p.ARG402GLN	Glutaric aciduria 1 (GA1)
Swiss-Prot	VAR_000371	Disease	p.ARG128GLY	Glutaric aciduria 1 (GA1)
Swiss-Prot	VAR_000372	Disease	p.ARG138GLY	Glutaric aciduria 1 (GA1)
Swiss-Prot	VAR_000401	Disease	p.ARG355HIS	Glutaric aciduria 1 (GA1)
Swiss-Prot	VAR_000406	Disease	p.ARG383HIS	Glutaric aciduria 1 (GA1)
Swiss-Prot	VAR_000367	Disease	p.ARG94LEU	Glutaric aciduria 1 (GA1)
Swiss-Prot	VAR_000380	Disease	p.ARG227PRO	Glutaric aciduria 1 (GA1)
Swiss-Prot	VAR_000383	Disease	p.ARG257TRP	Glutaric aciduria 1 (GA1)
Swiss-Prot	VAR_000388	Disease	p.ARG294TRP	Glutaric aciduria 1 (GA1)
Swiss-Prot	VAR_000395	Disease	p.ARG313TRP	Glutaric aciduria 1 (GA1)
Swiss-Prot	VAR_000412	Disease	p.ARG402TRP	Glutaric aciduria 1 (GA1)
Swiss-Prot	VAR_000410	Disease	p.ASN392ASP	Glutaric aciduria 1 (GA1)
Swiss-Prot	VAR_000415	Disease	p.ASN406LYS	Glutaric aciduria 1 (GA1)
Swiss-Prot	VAR_000403	Disease	p.CYS375ARG	Glutaric aciduria 1 (GA1)
Swiss-Prot	VAR_000393	Disease	p.CYS308SER	Glutaric aciduria 1 (GA1)
Swiss-Prot	VAR_000369	Disease	p.CYS115TYR	Glutaric aciduria 1 (GA1)
Swiss-Prot	VAR_000396	Disease	p.GLN333GLU	Glutaric aciduria 1 (GA1)
Swiss-Prot	VAR_000402	Disease	p.GLU365LYS	Glutaric aciduria 1 (GA1)
Swiss-Prot	VAR_000417	Disease	p.GLU414LYS	Glutaric aciduria 1 (GA1)
Swiss-Prot	VAR_000409	Disease	p.GLY390ALA	Glutaric aciduria 1 (GA1)
Swiss-Prot	VAR_000368	Disease	p.GLY101ARG	Glutaric aciduria 1 (GA1)
Swiss-Prot	VAR_000376	Disease	p.GLY178ARG	Glutaric aciduria 1 (GA1)
Swiss-Prot	VAR_000398	Disease	p.GLY354ARG	Glutaric aciduria 1 (GA1)
Swiss-Prot	VAR_000408	Disease	p.GLY390ARG	Glutaric aciduria 1 (GA1)
Swiss-Prot	VAR_000399	Disease	p.GLY354SER	Glutaric aciduria 1 (GA1)
Swiss-Prot	VAR_000414	Disease	p.HIS403ARG	Glutaric aciduria 1 (GA1)
Swiss-Prot	VAR_000377	Disease	p.LEU179ARG	Glutaric aciduria 1 (GA1)
Swiss-Prot	VAR_000386	Disease	p.LEU283PRO	Glutaric aciduria 1 (GA1)
Swiss-Prot	VAR_000416	Disease	p.LEU407PRO	Glutaric aciduria 1 (GA1)
Swiss-Prot	VAR_000394	Disease	p.LEU309TRP	Glutaric aciduria 1 (GA1)
Swiss-Prot	VAR_000378	Disease	p.MET191THR	Glutaric aciduria 1 (GA1)
Swiss-Prot	VAR_060588	Disease	p.MET263VAL	Glutaric aciduria 1 (GA1)
Swiss-Prot	VAR_000384	Disease	p.MET266VAL	Glutaric aciduria 1 (GA1)
Swiss-Prot	VAR_000381	Disease	p.PHE236LEU	Glutaric aciduria 1 (GA1)
Swiss-Prot	VAR_000385	Disease	p.PRO278SER	Glutaric aciduria 1 (GA1)
Swiss-Prot	VAR_000373	Disease	p.SER139LEU	Glutaric aciduria 1 (GA1)
Swiss-Prot	VAR_000392	Disease	p.SER305LEU	Glutaric aciduria 1 (GA1)
Swiss-Prot	VAR_000418	Disease	p.THR416ILE	Glutaric aciduria 1 (GA1)
Swiss-Prot	VAR_000421	Disease	p.THR429MET	Glutaric aciduria 1 (GA1)
Swiss-Prot	VAR_000389	Disease	p.TYR295HIS	Glutaric aciduria 1 (GA1)
Swiss-Prot	VAR_000374	Disease	p.VAL148ILE	Glutaric aciduria 1 (GA1)
Swiss-Prot	VAR_000411	Disease	p.VAL400MET	Glutaric aciduria 1 (GA1)
OMIM	608801.0007	Disease	p.ALA293THR	GLUTARIC ACIDEMIA I
OMIM	608801.0002	Disease	p.ALA421VAL	GLUTARIC ACIDEMIA I
OMIM	608801.0009	Disease	p.ARG227PRO	GLUTARIC ACIDEMIA I
OMIM	608801.0004	Disease	p.ARG402TRP	GLUTARIC ACIDEMIA I
OMIM	608801.0005	Disease	p.GLU365LYS	GLUTARIC ACIDEMIA I
OMIM	608801.0003	Disease	p.THR416ILE	GLUTARIC ACIDEMIA I
OMIM	608801.0001	Disease	p.TYR295HIS	GLUTARIC ACIDEMIA I
OMIM	608801.0008	Disease	p.VAL400MET	GLUTARIC ACIDEMIA I

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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