Results for the protein: P07911

Results for the Protein: P07911

137116

7369

UMOD

NCBI, UniProt

UROM_HUMAN RecName: Full=Uromodulin; AltName: Full=Tamm-Horsfall urinary glycoprotein; Short=THP; Contains: RecName: Full=Uromodulin, secreted form; Flags: Precursor

Known Diseases associated with this Protein:
  FAMILIAL JUVENILE HYPERURICEMIC NEPHROPATHY 1 (HNFJ1)
  GLOMERULOCYSTIC KIDNEY DISEASE WITH HYPERURICEMIA AND ISOSTHENURIA (GCKDHI)
  MEDULLARY CYSTIC KIDNEY DISEASE 2 (MCKD2)

12

4

0

0

16

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Default View: EGF - smart00181 EGF_CA - smart00179 EGF_CA - pfam07645 ZP - smart00241	Swiss-Prot Protein: P07911 Identical to: NP_001008390, NP_003352 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
EGF_CA	pfam07645	3.8e-16	65	106
EGF_CA	smart00179	6.2e-15	65	107
EGF	smart00181	3e-10	68	107
EGF_CA	pfam07645	1.2e-14	108	148
EGF_CA	smart00179	1.8e-14	108	149
EGF	smart00181	5e-12	111	149
ZP	smart00241	3.5e-77	334	585

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_025953	Disease	p.ASN128SER	Familial juvenile hyperuricemic nephropathy 1 (HNFJ1)
Swiss-Prot	VAR_025952	Disease	p.CYS126ARG	Familial juvenile hyperuricemic nephropathy 1 (HNFJ1)
Swiss-Prot	VAR_017668	Disease	p.CYS217ARG	Familial juvenile hyperuricemic nephropathy 1 (HNFJ1)
Swiss-Prot	VAR_025961	Disease	p.CYS315ARG	Glomerulocystic kidney disease with hyperuricemia and isosthenuria (GCKDHI)
Swiss-Prot	VAR_025960	Disease	p.CYS300GLY	Familial juvenile hyperuricemic nephropathy 1 (HNFJ1)
Swiss-Prot	VAR_025955	Polymorphism	p.CYS150SER	N/A
Swiss-Prot	VAR_025954	Polymorphism	p.CYS148TRP	N/A
Swiss-Prot	VAR_025958	Disease	p.CYS248TRP	Medullary cystic kidney disease 2 (MCKD2)
Swiss-Prot	VAR_017667	Disease	p.CYS148TYR	Familial juvenile hyperuricemic nephropathy 1 (HNFJ1)
Swiss-Prot	VAR_025956	Disease	p.CYS223TYR	Familial juvenile hyperuricemic nephropathy 1 (HNFJ1)
Swiss-Prot	VAR_025959	Disease	p.CYS255TYR	Familial juvenile hyperuricemic nephropathy 1 (HNFJ1)
Swiss-Prot	VAR_025962	Polymorphism	p.CYS317TYR	N/A
Swiss-Prot	VAR_025950	Disease	p.CYS77TYR	Familial juvenile hyperuricemic nephropathy 1 (HNFJ1)
Swiss-Prot	VAR_017666	Disease	p.GLY103CYS	Medullary cystic kidney disease 2 (MCKD2)
Swiss-Prot	VAR_025957	Disease	p.THR225LYS	Medullary cystic kidney disease 2 (MCKD2)
Swiss-Prot	VAR_061993	Polymorphism	p.VAL458LEU	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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