Results for the protein: Q8N3I7

Results for the Protein: Q8N3I7

74750959

129880

BBS5

NCBI, UniProt

BBS5_HUMAN RecName: Full=Bardet-Biedl syndrome 5 protein

Known Diseases associated with this Protein:
BARDET-BIEDL SYNDROME 5
BARDET-BIEDL SYNDROME 5 (BBS5)

5

3

4

0

4

Tips:

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Default View: DUF1448 - pfam07289 DM16 - smart00683	Swiss-Prot Protein: Q8N3I7 Identical to: NP_689597 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
DM16	smart00683	3.6e-26	28	82
DM16	smart00683	3.7e-32	158	212

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_025317	Polymorphism	p.ARG207HIS	N/A
Swiss-Prot	VAR_066291	Polymorphism	p.ASN251ASP	N/A
Swiss-Prot	VAR_025316	Polymorphism	p.ASN184SER	N/A
Swiss-Prot	VAR_066290	Disease	p.GLY72SER	Bardet-Biedl syndrome 5 (BBS5)
OMIM	603650.0005	Disease	p.GLY72SER	BARDET-BIEDL SYNDROME 5
OMIM	603650.0002	Disease	p.LEU142TER	BARDET-BIEDL SYNDROME 5
OMIM	603650.0006	Disease	p.THR183ALA	BARDET-BIEDL SYNDROME 5
OMIM	603650.0004	Disease	p.TRP59TER	BARDET-BIEDL SYNDROME 5

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