Results for the protein: Q6ZW61

Results for the Protein: Q6ZW61

296434408

166379

BBS12

NCBI, UniProt

BBS12_HUMAN RecName: Full=Bardet-Biedl syndrome 12 protein

Known Diseases associated with this Protein:
BARDET-BIEDL SYNDROME 12
BARDET-BIEDL SYNDROME 12 (BBS12)

14

16

2

7

21

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Default View:	Swiss-Prot Protein: Q6ZW61 Identical to: NP_001171478, NP_689831 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 ↕
Swiss-Prot	VAR_034926	Disease	p.ALA289PRO	Bardet-Biedl syndrome 12 (BBS12)
Swiss-Prot	VAR_034933	Polymorphism	p.ALA615VAL	N/A
Swiss-Prot	VAR_066277	Disease	p.ARG674CYS	Bardet-Biedl syndrome 12 (BBS12)
Swiss-Prot	VAR_066270	Disease	p.ARG355GLN	Bardet-Biedl syndrome 12 (BBS12)
dbSNP	rs309370	Polymorphism	p.ARG386GLN	N/A
Swiss-Prot	VAR_066275	Disease	p.ARG525HIS	Bardet-Biedl syndrome 12 (BBS12)
Swiss-Prot	VAR_034931	Polymorphism	p.ARG484LYS	N/A
dbSNP	rs10027479	Polymorphism	p.ASN461HIS	N/A
dbSNP	rs17006082	Polymorphism	p.ASN238LYS	N/A
dbSNP	rs13135778	Polymorphism	p.ASP467ASN	N/A
Swiss-Prot	VAR_066269	Disease	p.GLN293GLU	Bardet-Biedl syndrome 12 (BBS12)
dbSNP	rs309369	Polymorphism	p.GLU126ASP	N/A
Swiss-Prot	VAR_066276	Disease	p.GLY539ASP	Bardet-Biedl syndrome 12 (BBS12)
Swiss-Prot	VAR_066267	Polymorphism	p.GLY119SER	N/A
Swiss-Prot	VAR_034932	Disease	p.GLY540VAL	Bardet-Biedl syndrome 12 (BBS12)
Swiss-Prot	VAR_062964	Disease	p.ILE346THR	Bardet-Biedl syndrome 12 (BBS12)
Swiss-Prot	VAR_034919	Polymorphism	p.ILE39THR	N/A
Swiss-Prot	VAR_034923	Polymorphism	p.ILE170VAL	N/A
Swiss-Prot	VAR_066266	Disease	p.LEU88ARG	Bardet-Biedl syndrome 12 (BBS12)
Swiss-Prot	VAR_034924	Polymorphism	p.LYS195ARG	N/A
Swiss-Prot	VAR_066272	Polymorphism	p.LYS408ARG	N/A
Swiss-Prot	VAR_034922	Disease	p.PRO159LEU	Bardet-Biedl syndrome 12 (BBS12)
dbSNP	rs28507107	Polymorphism	p.SER616ASN	N/A
dbSNP	rs7665271	Polymorphism	p.SER429THR	N/A
Swiss-Prot	VAR_062965	Disease	p.THR501MET	Bardet-Biedl syndrome 12 (BBS12)
Swiss-Prot	VAR_066274	Polymorphism	p.TYR524CYS	N/A
Swiss-Prot	VAR_066268	Polymorphism	p.TYR263HIS	N/A
Swiss-Prot	VAR_066271	Disease	p.VAL400MET	Bardet-Biedl syndrome 12 (BBS12)
OMIM	610683.0004	Disease	p.ALA289PRO	BARDET-BIEDL SYNDROME 12
OMIM	610683.0001	Disease	p.ARG355TER	BARDET-BIEDL SYNDROME 12

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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