Results for the protein: Q9UEF7

Results for the Protein: Q9UEF7

77416517

9365

KL

NCBI, UniProt

KLOT_HUMAN RecName: Full=Klotho; Contains: RecName: Full=Klotho peptide; Flags: Precursor

Known Diseases associated with this Protein:
TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC
TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL (HFTC)

2

6

1

3

4

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Default View:	Swiss-Prot Protein: Q9UEF7 Identical to: NP_004786 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 ↕
dbSNP	rs9527025	Polymorphism	p.CYS370SER	N/A
Swiss-Prot	VAR_064554	Disease	p.HIS193ARG	Tumoral calcinosis, hyperphosphatemic, familial (HFTC)
dbSNP	rs9536314	Polymorphism	p.PHE352VAL	N/A
Swiss-Prot	VAR_023583	Polymorphism	p.PHE45VAL	N/A
Swiss-Prot	VAR_023582	Polymorphism	p.PRO15GLN	N/A
Swiss-Prot	VAR_036449	Polymorphism	p.PRO954LEU	N/A
dbSNP	rs3752472	Polymorphism	p.PRO514SER	N/A
OMIM	604824.0002	Disease	p.HIS193ARG	TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC

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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