Results for the protein: Q3SYG4

Results for the Protein: Q3SYG4

97180305

27241

BBS9

NCBI, UniProt

PTHB1_HUMAN RecName: Full=Protein PTHB1; AltName: Full=Bardet-Biedl syndrome 9 protein; AltName: Full=Parathyroid hormone-responsive B1 gene protein

Known Diseases associated with this Protein:
BARDET-BIEDL SYNDROME 9 (BBS9)

1

7

0

2

6

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Default View:	Swiss-Prot Protein: Q3SYG4 Identical to: NP_940820 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	rs11773504	Polymorphism	p.ALA455THR	N/A
Swiss-Prot	VAR_026390	Polymorphism	p.ALA455VAL	N/A
Swiss-Prot	VAR_051291	Polymorphism	p.ARG521GLN	N/A
Swiss-Prot	VAR_026389	Disease	p.GLY141ARG	Bardet-Biedl syndrome 9 (BBS9)
Swiss-Prot	VAR_066294	Polymorphism	p.LEU779GLN	N/A
Swiss-Prot	VAR_066293	Polymorphism	p.LEU665PHE	N/A
dbSNP	rs4498440	Polymorphism	p.THR12ALA	N/A
Swiss-Prot	VAR_066292	Polymorphism	p.THR549ILE	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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