Results for the protein: P35680

Results for the Protein: P35680

547664

6928

HNF1B

NCBI, UniProt

HNF1B_HUMAN RecName: Full=Hepatocyte nuclear factor 1-beta; Short=HNF-1-beta; Short=HNF-1B; AltName: Full=Homeoprotein LFB3; AltName: Full=Transcription factor 2; Short=TCF-2; AltName: Full=Variant hepatic nuclear factor 1; Short=vHNF1

Known Diseases associated with this Protein:
  DIABETES MELLITUS, NON-INSULIN-DEPENDENT (NIDDM)
  DIABETES MELLITUS, NONINSULIN-DEPENDENT
  RENAL CYSTS AND DIABETES SYNDROME
  RENAL CYSTS AND DIABETES SYNDROME (RCAD)

30

1

6

0

25

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Default View: HNF-1_N - pfam04814 homeodomain - cd00086 HOX - smart00389 HNF-1B_C - pfam04812	Swiss-Prot Protein: P35680 Identical to: NP_000449 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
HNF-1_N	pfam04814	1.8e-120	1	182
HNF-1B_C	pfam04812	4.3e-151	314	551
HOX	smart00389	1.9e-19	232	308

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_046026	Disease	p.ALA241THR	Renal cysts and diabetes syndrome (RCAD)
Swiss-Prot	VAR_046031	Disease	p.ARG295CYS	Renal cysts and diabetes syndrome (RCAD)
Swiss-Prot	VAR_046025	Disease	p.ARG235GLN	Renal cysts and diabetes syndrome (RCAD)
Swiss-Prot	VAR_046029	Disease	p.ARG276GLN	Renal cysts and diabetes syndrome (RCAD)
Swiss-Prot	VAR_046028	Disease	p.ARG276GLY	Renal cysts and diabetes syndrome (RCAD)
Swiss-Prot	VAR_046024	Disease	p.ARG165HIS	Renal cysts and diabetes syndrome (RCAD)
Swiss-Prot	VAR_046032	Disease	p.ARG295HIS	Renal cysts and diabetes syndrome (RCAD)
Swiss-Prot	VAR_046016	Disease	p.ARG112PRO	Renal cysts and diabetes syndrome (RCAD)
Swiss-Prot	VAR_046033	Disease	p.ARG295PRO	Renal cysts and diabetes syndrome (RCAD)
Swiss-Prot	VAR_046017	Disease	p.GLN136GLU	Renal cysts and diabetes syndrome (RCAD)
Swiss-Prot	VAR_046027	Disease	p.GLU260ASP	Renal cysts and diabetes syndrome (RCAD)
Swiss-Prot	VAR_046030	Disease	p.GLY285ASP	Renal cysts and diabetes syndrome (RCAD)
Swiss-Prot	VAR_046014	Disease	p.GLY76CYS	Renal cysts and diabetes syndrome (RCAD)
Swiss-Prot	VAR_046034	Disease	p.GLY370SER	Renal cysts and diabetes syndrome (RCAD)
Swiss-Prot	VAR_012058	Polymorphism	p.GLY492SER	N/A
Swiss-Prot	VAR_046021	Disease	p.HIS153ASN	Renal cysts and diabetes syndrome (RCAD)
Swiss-Prot	VAR_046023	Disease	p.LYS164GLN	Renal cysts and diabetes syndrome (RCAD)
Swiss-Prot	VAR_046022	Disease	p.LYS156GLU	Renal cysts and diabetes syndrome (RCAD)
Swiss-Prot	VAR_017665	Disease	p.SER465ARG	Diabetes mellitus, non-insulin-dependent (NIDDM)
Swiss-Prot	VAR_046018	Disease	p.SER148LEU	Renal cysts and diabetes syndrome (RCAD)
Swiss-Prot	VAR_046012	Disease	p.SER36PHE	Renal cysts and diabetes syndrome (RCAD)
Swiss-Prot	VAR_046020	Disease	p.SER151PRO	Renal cysts and diabetes syndrome (RCAD)
Swiss-Prot	VAR_046019	Disease	p.SER148TRP	Renal cysts and diabetes syndrome (RCAD)
Swiss-Prot	VAR_046015	Disease	p.VAL110GLY	Renal cysts and diabetes syndrome (RCAD)
Swiss-Prot	VAR_046013	Disease	p.VAL61GLY	Renal cysts and diabetes syndrome (RCAD)
OMIM	189907.0014	Disease	p.ARG165HIS	RENAL CYSTS AND DIABETES SYNDROME
OMIM	189907.0001	Disease	p.ARG177TER	RENAL CYSTS AND DIABETES SYNDROME
OMIM	189907.0006	Disease	p.ARG276TER	RENAL CYSTS AND DIABETES SYNDROME
OMIM	189907.0004	Disease	p.GLU101TER	RENAL CYSTS AND DIABETES SYNDROME
OMIM	189907.0007	Disease	p.SER465ARG	DIABETES MELLITUS, NONINSULIN-DEPENDENT
OMIM	189907.0011	Disease	p.SER148TRP	RENAL CYSTS AND DIABETES SYNDROME

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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