Results for the protein: P20823

Results for the Protein: P20823

51338763

6927

HNF1A

NCBI, UniProt

HNF1A_HUMAN RecName: Full=Hepatocyte nuclear factor 1-alpha; Short=HNF-1-alpha; Short=HNF-1A; AltName: Full=Liver-specific transcription factor LF-B1; Short=LFB1; AltName: Full=Transcription factor 1; Short=TCF-1

Known Diseases associated with this Protein:
  DIABETES MELLITUS, INSULIN-DEPENDENT, 20
  DIABETES MELLITUS, INSULIN-DEPENDENT, 20 (IDDM20)
  DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO
  INSULIN RESISTANCE, SUSCEPTIBILITY TO
  MATURITY-ONSET DIABETES OF THE YOUNG 3 (MODY3)
  MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3
  RENAL CELL CARCINOMA, CHROMO
  RENAL CELL CARCINOMA, CLEAR CELL, INCLUDED;;
  SERUM HDL CHOLESTEROL LEVEL, MODIFIER OF, INCLUDED

53

20

14

3

56

Tips:

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Default View: HNF-1_N - pfam04814 homeodomain - cd00086 HOX - smart00389 HNF-1B_C - pfam04812 HNF-1A_C - pfam04813	Swiss-Prot Protein: P20823 Identical to: NP_000536 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
HNF-1_N	pfam04814	1.6e-118	1	176
HNF-1B_C	pfam04812	9.2e-161	282	541
HNF-1A_C	pfam04813	8.8e-50	542	630
HOX	smart00389	2.4e-17	200	276

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_010551	Disease	p.ALA161THR	Maturity-onset diabetes of the young 3 (MODY3)
Swiss-Prot	VAR_010540	Polymorphism	p.ALA98VAL	N/A
Swiss-Prot	VAR_010554	Disease	p.ARG203CYS	Maturity-onset diabetes of the young 3 (MODY3)
Swiss-Prot	VAR_010561	Disease	p.ARG263CYS	Maturity-onset diabetes of the young 3 (MODY3)
Swiss-Prot	VAR_010563	Polymorphism	p.ARG272CYS	N/A
Swiss-Prot	VAR_010545	Disease	p.ARG131GLN	Maturity-onset diabetes of the young 3 (MODY3)
Swiss-Prot	VAR_003758	Disease	p.ARG159GLN	Maturity-onset diabetes of the young 3 (MODY3)
Swiss-Prot	VAR_010556	Disease	p.ARG229GLN	Maturity-onset diabetes of the young 3 (MODY3)
Swiss-Prot	VAR_010570	Polymorphism	p.ARG583GLN	N/A
Swiss-Prot	VAR_033093	Polymorphism	p.ARG244GLY	N/A
Swiss-Prot	VAR_003761	Disease	p.ARG583GLY	Diabetes mellitus, insulin-dependent, 20 (IDDM20)
Swiss-Prot	VAR_012484	Disease	p.ARG203HIS	Maturity-onset diabetes of the young 3 (MODY3)
Swiss-Prot	VAR_003759	Disease	p.ARG272HIS	Maturity-onset diabetes of the young 3 (MODY3)
Swiss-Prot	VAR_010546	Disease	p.ARG131TRP	Maturity-onset diabetes of the young 3 (MODY3)
Swiss-Prot	VAR_010550	Disease	p.ARG159TRP	Maturity-onset diabetes of the young 3 (MODY3)
Swiss-Prot	VAR_063069	Disease	p.ARG200TRP	Maturity-onset diabetes of the young 3 (MODY3)
Swiss-Prot	VAR_010562	Disease	p.ARG271TRP	Maturity-onset diabetes of the young 3 (MODY3)
Swiss-Prot	VAR_033092	Polymorphism	p.ASN237SER	N/A
Swiss-Prot	VAR_033088	Polymorphism	p.ASN127TYR	N/A
Swiss-Prot	VAR_010557	Disease	p.CYS241GLY	Maturity-onset diabetes of the young 3 (MODY3)
Swiss-Prot	VAR_033094	Polymorphism	p.GLN250PRO	N/A
Swiss-Prot	VAR_010539	Disease	p.GLU48LYS	Diabetes mellitus, insulin-dependent, 20 (IDDM20)
Swiss-Prot	VAR_010572	Disease	p.GLU619LYS	Maturity-onset diabetes of the young 3 (MODY3)
Swiss-Prot	VAR_012483	Disease	p.GLY20ARG	Maturity-onset diabetes of the young 3 (MODY3)
Swiss-Prot	VAR_010565	Disease	p.GLY415ARG	Diabetes mellitus, insulin-dependent, 20 (IDDM20)
Swiss-Prot	VAR_010552	Polymorphism	p.GLY191ASP	N/A
Swiss-Prot	VAR_010538	Disease	p.GLY31ASP	Maturity-onset diabetes of the young 3 (MODY3)
Swiss-Prot	VAR_010564	Polymorphism	p.GLY319SER	N/A
Swiss-Prot	VAR_010569	Polymorphism	p.GLY574SER	N/A
Swiss-Prot	VAR_010566	Polymorphism	p.HIS514ARG	N/A
Swiss-Prot	VAR_010548	Disease	p.HIS143TYR	Maturity-onset diabetes of the young 3 (MODY3)
Swiss-Prot	VAR_010543	Disease	p.ILE128ASN	Maturity-onset diabetes of the young 3 (MODY3)
dbSNP	rs1169288	Polymorphism	p.ILE27LEU	N/A
Swiss-Prot	VAR_012486	Disease	p.ILE618MET	Maturity-onset diabetes of the young 3 (MODY3)
Swiss-Prot	VAR_010541	Disease	p.LEU107ARG	Maturity-onset diabetes of the young 3 (MODY3)
Swiss-Prot	VAR_010537	Disease	p.LEU12HIS	Maturity-onset diabetes of the young 3 (MODY3)
Swiss-Prot	VAR_010558	Polymorphism	p.LEU254MET	N/A
Swiss-Prot	VAR_010549	Disease	p.LYS158ASN	Maturity-onset diabetes of the young 3 (MODY3)
Swiss-Prot	VAR_010555	Disease	p.LYS205GLN	Maturity-onset diabetes of the young 3 (MODY3)
Swiss-Prot	VAR_010542	Disease	p.LYS117GLU	Maturity-onset diabetes of the young 3 (MODY3)
Swiss-Prot	VAR_033096	Polymorphism	p.LYS273GLU	N/A
Swiss-Prot	VAR_033095	Polymorphism	p.PHE268CYS	N/A
Swiss-Prot	VAR_003760	Disease	p.PRO447LEU	Maturity-onset diabetes of the young 3 (MODY3)
Swiss-Prot	VAR_010567	Disease	p.PRO519LEU	Maturity-onset diabetes of the young 3 (MODY3)
Swiss-Prot	VAR_010544	Disease	p.PRO129THR	Maturity-onset diabetes of the young 3 (MODY3)
dbSNP	rs2464196	Polymorphism	p.SER487ASN	N/A
Swiss-Prot	VAR_012485	Disease	p.SER432CYS	Maturity-onset diabetes of the young 3 (MODY3)
dbSNP	rs1169305	Polymorphism	p.SER574GLY	N/A
Swiss-Prot	VAR_010571	Disease	p.SER594ILE	Maturity-onset diabetes of the young 3 (MODY3)
Swiss-Prot	VAR_003757	Disease	p.SER142PHE	Maturity-onset diabetes of the young 3 (MODY3)
Swiss-Prot	VAR_010568	Disease	p.THR537ARG	Maturity-onset diabetes of the young 3 (MODY3)
Swiss-Prot	VAR_010573	Disease	p.THR620ILE	Maturity-onset diabetes of the young 3 (MODY3)
Swiss-Prot	VAR_010560	Disease	p.THR260MET	Maturity-onset diabetes of the young 3 (MODY3)
Swiss-Prot	VAR_033089	Polymorphism	p.TRP165CYS	N/A
Swiss-Prot	VAR_033090	Polymorphism	p.TRP206CYS	N/A
Swiss-Prot	VAR_033091	Polymorphism	p.TRP206LEU	N/A
Swiss-Prot	VAR_003756	Disease	p.TYR122CYS	Maturity-onset diabetes of the young 3 (MODY3)
Swiss-Prot	VAR_010559	Disease	p.VAL259ASP	Maturity-onset diabetes of the young 3 (MODY3)
Swiss-Prot	VAR_010547	Disease	p.VAL133MET	Maturity-onset diabetes of the young 3 (MODY3)
OMIM	142410.0019	Disease	p.ALA276ASP	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3
OMIM	142410.0014	Disease	p.ARG583GLN	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3
OMIM	142410.0006	Disease	p.ARG583GLY	DIABETES MELLITUS, INSULIN-DEPENDENT, 20
OMIM	142410.0005	Disease	p.ARG272HIS	DIABETES MELLITUS, INSULIN-DEPENDENT, 20
OMIM	142410.0016	Disease	p.ARG131TRP	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3
OMIM	142410.0022	Disease	p.GLY92ASP	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3\|\|RENAL CELL CARCINOMA, CLEAR CELL, INCLUDED;;\|\|RENAL CELL CARCINOMA, CHROMO
OMIM	142410.0008	Disease	p.GLY319SER	DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO
OMIM	142410.0013	Disease	p.GLY574SER	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3
OMIM	142410.0011	Disease	p.ILE27LEU	INSULIN RESISTANCE, SUSCEPTIBILITY TO\|\|SERUM HDL CHOLESTEROL LEVEL, MODIFIER OF, INCLUDED
OMIM	142410.0015	Disease	p.PRO112LEU	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3
OMIM	142410.0002	Disease	p.PRO447LEU	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3
OMIM	142410.0021	Disease	p.SER531THR	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3
OMIM	142410.0009	Disease	p.THR620ILE	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3
OMIM	142410.0004	Disease	p.TYR122CYS	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3

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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