Results for the protein: Q05932

Results for the Protein: Q05932

1706884

2356

FPGS

NCBI, UniProt

FOLC_HUMAN RecName: Full=Folylpolyglutamate synthase, mitochondrial; AltName: Full=Folylpoly-gamma-glutamate synthetase; Short=FPGS; AltName: Full=Tetrahydrofolylpolyglutamate synthase; Short=Tetrahydrofolate synthase; Flags: Precursor

			0 7 0 1 6

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Default View: FolC - COG0285 Mur_ligase_C - pfam02875	Swiss-Prot Protein: Q05932 Identical to: NP_004948 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
Mur_ligase_C	pfam02875	0.00033	360	444

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_043930	Polymorphism	p.ALA489VAL	N/A
Swiss-Prot	VAR_066017	Polymorphism	p.ARG466CYS	N/A
dbSNP	rs10760502	Polymorphism	p.ILE22VAL	N/A
Swiss-Prot	VAR_066016	Polymorphism	p.PHE13LEU	N/A
Swiss-Prot	VAR_066018	Polymorphism	p.SER499PHE	N/A
Swiss-Prot	VAR_043931	Polymorphism	p.SER528THR	N/A
Swiss-Prot	VAR_043929	Polymorphism	p.VAL437ASP	N/A

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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