Results for the protein: P09467

Results for the Protein: P09467

311033495

2203

FBP1

NCBI, UniProt

F16P1_HUMAN RecName: Full=Fructose-1,6-bisphosphatase 1; Short=FBPase 1; AltName: Full=D-fructose-1,6-bisphosphate 1-phosphohydrolase 1

Known Diseases associated with this Protein:
FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY
FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY (FBPD)

9

4

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2

6

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Default View: Fbp - COG0158 FBPase - pfam00316 FBPase - cd00354 FIG - cd01636 IMPase_like - cd01637	Swiss-Prot Protein: P09467 Identical to: NP_000498, NP_001121100 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
FBPase	cd00354	2.7e-202	18	332
FIG	cd01636	3.8e-104	35	299
IMPase_like	cd01637	5.1e-56	35	320
FBPase	pfam00316	2e-213	12	335

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_002381	Disease	p.ALA177ASP	Fructose-1,6-bisphosphatase deficiency (FBPD)
Swiss-Prot	VAR_022214	Polymorphism	p.ARG255LEU	N/A
dbSNP	rs1769259	Polymorphism	p.ARG218LYS	N/A
Swiss-Prot	VAR_002380	Disease	p.GLY164SER	Fructose-1,6-bisphosphatase deficiency (FBPD)
dbSNP	rs2297085	Polymorphism	p.PHE233ILE	N/A
Swiss-Prot	VAR_038812	Disease	p.PHE194SER	Fructose-1,6-bisphosphatase deficiency (FBPD)
Swiss-Prot	VAR_038813	Disease	p.PRO284ARG	Fructose-1,6-bisphosphatase deficiency (FBPD)
Swiss-Prot	VAR_002382	Polymorphism	p.VAL325ALA	N/A
OMIM	611570.0003	Disease	p.ALA177ASP	FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY
OMIM	611570.0004	Disease	p.GLU30TER	FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY
OMIM	611570.0002	Disease	p.GLY164SER	FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY
OMIM	611570.0005	Disease	p.PHE194SER	FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY
OMIM	611570.0006	Disease	p.PRO284ARG	FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY

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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