Results for the protein: P22309

Results for the Protein: P22309

136729

54658

UGT1A1

NCBI, UniProt

UD11_HUMAN RecName: Full=UDP-glucuronosyltransferase 1-1; Short=UDPGT 1-1; Short=UGT1*1; Short=UGT1-01; Short=UGT1.1; AltName: Full=Bilirubin-specific UDPGT isozyme 1; Short=hUG-BR1; AltName: Full=UDP-glucuronosyltransferase 1-A; Short=UGT-1A; Short=UGT1A; AltName: Full=UDP-glucuronosyltransferase 1A1; Flags: Precursor

Known Diseases associated with this Protein:
  BILIRUBIN, SERUM LEVEL OF, QUANTITATIVE T
  CRIGLER-NAJJAR SYNDROME 1 (CN1)
  CRIGLER-NAJJAR SYNDROME 2 (CN2)
  CRIGLER-NAJJAR SYNDROME, TYPE I
  CRIGLER-NAJJAR SYNDROME, TYPE II
  CRIGLER-NAJJAR SYNDROME, TYPE II, INCLUDED
  GILBERT SYNDROME
  GILBERT SYNDROME (GILBS)
  GILBERT SYNDROME, INCLUDED
  HYPERBILIRUBINEMIA, TRANSIENT FAMILIAL NEONATAL
  HYPERBILIRUBINEMIA, TRANSIENT FAMILIAL NEONATAL, INCLUDED;;
  TRANSIENT FAMILIAL NEONATAL HYPERBILIRUBINEMIA (HBLRTFN)

55

1

13

1

42

Tips:

The Domains on the Default View are decided by the Domain's E-Value.

Clicking a check box will display or hide the correlated domain.

To view the Gene page, either click on the link to the left or the blue bar above the Protein's graphic.

Default View:	Swiss-Prot Protein: P22309 Identical to: NP_000454 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_026150	Disease	p.ALA478ASP	Crigler-Najjar syndrome 2 (CN2)
Swiss-Prot	VAR_007707	Disease	p.ALA401PRO	Crigler-Najjar syndrome 1 (CN1)
Swiss-Prot	VAR_025355	Polymorphism	p.ALA511PRO	N/A
Swiss-Prot	VAR_007704	Disease	p.ALA368THR	Crigler-Najjar syndrome 1 (CN1)
Swiss-Prot	VAR_007700	Disease	p.ALA292VAL	Crigler-Najjar syndrome 1 (CN1)
Swiss-Prot	VAR_026148	Disease	p.ARG403CYS	Crigler-Najjar syndrome 2 (CN2)
Swiss-Prot	VAR_026141	Disease	p.ARG336GLN	Crigler-Najjar syndrome 1 (CN1)
Swiss-Prot	VAR_012283	Disease	p.ARG367GLY	Gilbert syndrome (GILBS)
Swiss-Prot	VAR_026140	Disease	p.ARG336LEU	Crigler-Najjar syndrome 2 (CN2)
Swiss-Prot	VAR_007698	Disease	p.ARG209TRP	Crigler-Najjar syndrome 2 (CN2)
Swiss-Prot	VAR_026142	Disease	p.ARG336TRP	Crigler-Najjar syndrome 2 (CN2)
Swiss-Prot	VAR_019412	Disease	p.ASN400ASP	Crigler-Najjar syndrome 2 (CN2)
Swiss-Prot	VAR_064957	Disease	p.ASN279TYR	Crigler-Najjar syndrome 2 (CN2)
Swiss-Prot	VAR_007697	Disease	p.CYS177ARG	Crigler-Najjar syndrome 1 (CN1)
Swiss-Prot	VAR_007702	Disease	p.GLN331ARG	Crigler-Najjar syndrome 2 (CN2)
Swiss-Prot	VAR_007703	Disease	p.GLN357ARG	Crigler-Najjar syndrome 1 (CN1)
Swiss-Prot	VAR_026138	Disease	p.GLU291VAL	Crigler-Najjar syndrome 1 (CN1)
Swiss-Prot	VAR_007699	Disease	p.GLY276ARG	Crigler-Najjar syndrome 1 (CN1)
dbSNP	rs4148323	Disease	p.GLY71ARG	Transient familial neonatal hyperbilirubinemia (HBLRTFN)
Swiss-Prot	VAR_007701	Disease	p.GLY308GLU	Crigler-Najjar syndrome 1 (CN1)
Swiss-Prot	VAR_026145	Disease	p.GLY377VAL	Crigler-Najjar syndrome 2 (CN2)
Swiss-Prot	VAR_026147	Disease	p.GLY395VAL	Crigler-Najjar syndrome 1 (CN1)
Swiss-Prot	VAR_026144	Disease	p.HIS376ARG	Crigler-Najjar syndrome 2 (CN2)
Swiss-Prot	VAR_026135	Disease	p.HIS39ASP	Crigler-Najjar syndrome 1 (CN1)
Swiss-Prot	VAR_026139	Disease	p.ILE294THR	Gilbert syndrome (GILBS)
Swiss-Prot	VAR_064958	Disease	p.ILE370VAL	Crigler-Najjar syndrome 2 (CN2)
Swiss-Prot	VAR_019410	Disease	p.LEU15ARG	Crigler-Najjar syndrome 2 (CN2)
Swiss-Prot	VAR_019411	Disease	p.LEU175GLN	Crigler-Najjar syndrome 2 (CN2)
Swiss-Prot	VAR_064961	Disease	p.LEU443PRO	Crigler-Najjar syndrome 2 (CN2)
Swiss-Prot	VAR_007708	Disease	p.LYS428GLU	Crigler-Najjar syndrome 1 (CN1)
Swiss-Prot	VAR_064960	Disease	p.LYS402THR	Crigler-Najjar syndrome 1 (CN1)
Swiss-Prot	VAR_026136	Disease	p.PHE83LEU	Gilbert syndrome (GILBS)
Swiss-Prot	VAR_009505	Disease	p.PRO229GLN	Gilbert syndrome (GILBS)
Swiss-Prot	VAR_026134	Disease	p.PRO34GLN	Crigler-Najjar syndrome 2 (CN2)
Swiss-Prot	VAR_064959	Disease	p.PRO387HIS	Crigler-Najjar syndrome 2 (CN2)
Swiss-Prot	VAR_026146	Disease	p.PRO387SER	Crigler-Najjar syndrome 1 (CN1)
Swiss-Prot	VAR_007706	Disease	p.SER381ARG	Crigler-Najjar syndrome 1 (CN1)
Swiss-Prot	VAR_064956	Disease	p.SER191PHE	Crigler-Najjar syndrome 2 (CN2)
Swiss-Prot	VAR_007705	Disease	p.SER375PHE	Crigler-Najjar syndrome 1 (CN1)
Swiss-Prot	VAR_026143	Disease	p.TRP354ARG	Crigler-Najjar syndrome 2 (CN2)
Swiss-Prot	VAR_026149	Disease	p.TRP461ARG	Crigler-Najjar syndrome 2 (CN2)
Swiss-Prot	VAR_007709	Disease	p.TYR486ASP	Transient familial neonatal hyperbilirubinemia (HBLRTFN)
Swiss-Prot	VAR_026137	Disease	p.VAL225GLY	Crigler-Najjar syndrome 2 (CN2)
OMIM	191740.0004	Disease	p.ARG341TER	CRIGLER-NAJJAR SYNDROME, TYPE I\|\|GILBERT SYNDROME, INCLUDED
OMIM	191740.0022	Disease	p.ASN400ASP	CRIGLER-NAJJAR SYNDROME, TYPE II\|\|GILBERT SYNDROME, INCLUDED
OMIM	191740.0009	Disease	p.CYS1TER	CRIGLER-NAJJAR SYNDROME, TYPE I
OMIM	191740.0005	Disease	p.GLN331ARG	CRIGLER-NAJJAR SYNDROME, TYPE II
OMIM	191740.0019	Disease	p.GLN357ARG	CRIGLER-NAJJAR SYNDROME, TYPE I
OMIM	191740.0003	Disease	p.GLN331TER	CRIGLER-NAJJAR SYNDROME, TYPE I
OMIM	191740.0016	Disease	p.GLY71ARG	GILBERT SYNDROME\|\|HYPERBILIRUBINEMIA, TRANSIENT FAMILIAL NEONATAL, INCLUDED;;\|\|BILIRUBIN, SERUM LEVEL OF, QUANTITATIVE T
OMIM	191740.0008	Disease	p.GLY309GLU	CRIGLER-NAJJAR SYNDROME, TYPE I
OMIM	191740.0023	Disease	p.LEU15ARG	CRIGLER-NAJJAR SYNDROME, TYPE II
OMIM	191740.0021	Disease	p.LEU175GLN	CRIGLER-NAJJAR SYNDROME, TYPE II
OMIM	191740.0010	Disease	p.PRO229GLN	GILBERT SYNDROME\|\|CRIGLER-NAJJAR SYNDROME, TYPE II, INCLUDED
OMIM	191740.0002	Disease	p.SER376PHE	CRIGLER-NAJJAR SYNDROME, TYPE I
OMIM	191740.0017	Disease	p.TYR486ASP	HYPERBILIRUBINEMIA, TRANSIENT FAMILIAL NEONATAL\|\|CRIGLER-NAJJAR SYNDROME, TYPE II, INCLUDED

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.

DMDM_info@umbc.edu | 1000 Hilltop Circle, Baltimore, MD 21250 | Department of Biological Sciences | Phone: 410-455-2258