Results for the protein: P22310

Results for the Protein: P22310

136731

54657

UGT1A4

NCBI, UniProt

UD14_HUMAN RecName: Full=UDP-glucuronosyltransferase 1-4; Short=UDPGT 1-4; Short=UGT1*4; Short=UGT1-04; Short=UGT1.4; AltName: Full=Bilirubin-specific UDPGT isozyme 2; Short=hUG-BR2; AltName: Full=UDP-glucuronosyltransferase 1-D; Short=UGT-1D; Short=UGT1D; AltName: Full=UDP-glucuronosyltransferase 1A4; Flags: Precursor

Known Diseases associated with this Protein:
CRIGLER-NAJJAR SYNDROME 1 (CN1)
CRIGLER-NAJJAR SYNDROME 2 (CN2)

4

5

0

4

5

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Default View: COG1819 - COG1819 UDPGT - pfam00201 GT1_Gtf_like - cd03784	Swiss-Prot Protein: P22310 Identical to: NP_009051 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
GT1_Gtf_like	cd03784	2.4e-10	29	462
UDPGT	pfam00201		29	526

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs3892221	Polymorphism	p.ARG11TRP	N/A
Swiss-Prot	VAR_007710	Disease	p.GLN332ARG	Crigler-Najjar syndrome 2 (CN2)
Swiss-Prot	VAR_061870	Polymorphism	p.HIS68TYR	N/A
dbSNP	rs45540231	Polymorphism	p.ILE176PHE	N/A
Swiss-Prot	VAR_009506	Disease	p.LEU132PRO	Crigler-Najjar syndrome 2 (CN2)
dbSNP	rs2011425	Polymorphism	p.LEU48VAL	N/A
dbSNP	rs6755571	Polymorphism	p.PRO24THR	N/A
Swiss-Prot	VAR_007711	Disease	p.SER376PHE	Crigler-Najjar syndrome 1 (CN1)
Swiss-Prot	VAR_009507	Disease	p.TYR487ASP	Crigler-Najjar syndrome 2 (CN2)

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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