Results for the protein: P22102

Results for the Protein: P22102

131616

2618

GART

NCBI, UniProt

PUR2_HUMAN RecName: Full=Trifunctional purine biosynthetic protein adenosine-3; Includes: RecName: Full=Phosphoribosylamine--glycine ligase; AltName: Full=Glycinamide ribonucleotide synthetase; Short=GARS; AltName: Full=Phosphoribosylglycinamide synthetase; Includes: RecName: Full=Phosphoribosylformylglycinamidine cyclo-ligase; AltName: Full=AIR synthase; Short=AIRS; AltName: Full=Phosphoribosyl-aminoimidazole synthetase; Includes: RecName: Full=Phosphoribosylglycinamide formyltransferase; AltName: Full=5'-phosphoribosylglycinamide transformylase; AltName: Full=GAR transformylase; Short=GART

			0 7 0 2 5

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Default View: AccC - COG0439 PurD - COG0151 GARS_N - pfam02844 GARS_A - pfam01071 GARS_C - pfam02843 PurM - COG0150 PurM - cd02196 AIRS - pfam00586 ThiL - cd02194 PurM-like - cd00396 AIRS_C - pfam02769 PurU - COG0788 Formyl_trans_N - pfam00551 PurN - COG0299	Swiss-Prot Protein: P22102 Identical to: NP_001129477, NP_001129478, NP_000810 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
PurD	COG0151	3e-235	3	431
PurM	COG0150	7.5e-195	432	779
PurM	cd02196	1.8e-201	468	767
ThiL	cd02194	0.00066	472	767
PurM-like	cd00396	2.6e-45	488	765
PurU	COG0788	9e-15	727	985
PurN	COG0299	5.8e-96	808	1009
GARS_N	pfam02844	2.2e-60	4	104
GARS_A	pfam01071	3.4e-146	105	298
GARS_C	pfam02843	6.2e-42	333	426
AIRS	pfam00586	7e-39	471	571
AIRS_C	pfam02769	2.2e-55	606	777
Formyl_trans_N	pfam00551	8e-82	808	988

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs59920090	Polymorphism	p.ALA632VAL	N/A
Swiss-Prot	VAR_051882	Polymorphism	p.ASP510GLY	N/A
Swiss-Prot	VAR_011819	Polymorphism	p.ASP752GLY	N/A
Swiss-Prot	VAR_011817	Polymorphism	p.LEU21PHE	N/A
Swiss-Prot	VAR_051883	Polymorphism	p.PRO641ALA	N/A
Swiss-Prot	VAR_011818	Polymorphism	p.VAL421ILE	N/A
dbSNP	rs8788	Polymorphism	p.VAL421PHE	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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