Results for the protein: O14638

Results for the Protein: O14638

206729860

5169

ENPP3

NCBI, UniProt

ENPP3_HUMAN RecName: Full=Ectonucleotide pyrophosphatase/phosphodiesterase family member 3; Short=E-NPP 3; AltName: Full=Phosphodiesterase I beta; Short=PD-Ibeta; AltName: Full=Phosphodiesterase I/nucleotide pyrophosphatase 3; AltName: CD_antigen=CD203c; Includes: RecName: Full=Alkaline phosphodiesterase I; Includes: RecName: Full=Nucleotide pyrophosphatase; Short=NPPase

			0 4 0 3 1

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Default View: SO - smart00201 Somatomedin_B - pfam01033 COG1524 - COG1524 Phosphodiest - pfam01663 NUC - cd00091 NUC - smart00477	Swiss-Prot Protein: O14638 Identical to: NP_005012 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
NUC	cd00091	2e-94	608	867
Somatomedin_B	pfam01033	1.1e-12	51	94
Somatomedin_B	pfam01033	6.4e-17	96	138
Phosphodiest	pfam01663	1e-122	161	486
SO	smart00201	9.4e-14	50	93
SO	smart00201	1.2e-17	94	137
NUC	smart00477	3.5e-108	627	857

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_046538	Polymorphism	p.ASN744HIS	N/A
dbSNP	rs77610153	Polymorphism	p.PHE721LEU	N/A
dbSNP	rs17601580	Polymorphism	p.SER786ASN	N/A
dbSNP	rs9321309	Polymorphism	p.VAL620MET	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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