Results for the protein: Q8TAM1

Results for the Protein: Q8TAM1

97043964

79738

BBS10

NCBI, UniProt

BBS10_HUMAN RecName: Full=Bardet-Biedl syndrome 10 protein

Known Diseases associated with this Protein:
BARDET-BIEDL SYNDROME 10 (BBS10)

23

6

0

1

28

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Default View: Cpn60_TCP1 - pfam00118	Swiss-Prot Protein: Q8TAM1 Identical to: NP_078961 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_066256	Polymorphism	p.ALA296THR	N/A
Swiss-Prot	VAR_066259	Disease	p.ALA636VAL	Bardet-Biedl syndrome 10 (BBS10)
Swiss-Prot	VAR_026391	Disease	p.ARG34PRO	Bardet-Biedl syndrome 10 (BBS10)
Swiss-Prot	VAR_026392	Disease	p.ARG49TRP	Bardet-Biedl syndrome 10 (BBS10)
Swiss-Prot	VAR_066253	Polymorphism	p.ASP142ASN	N/A
Swiss-Prot	VAR_026395	Disease	p.CYS195TRP	Bardet-Biedl syndrome 10 (BBS10)
Swiss-Prot	VAR_026393	Disease	p.CYS91TRP	Bardet-Biedl syndrome 10 (BBS10)
Swiss-Prot	VAR_026407	Disease	p.GLY677VAL	Bardet-Biedl syndrome 10 (BBS10)
Swiss-Prot	VAR_066261	Polymorphism	p.HIS715ARG	N/A
Swiss-Prot	VAR_066257	Disease	p.HIS410GLN	Bardet-Biedl syndrome 10 (BBS10)
Swiss-Prot	VAR_026398	Disease	p.LEU308PHE	Bardet-Biedl syndrome 10 (BBS10)
Swiss-Prot	VAR_026402	Polymorphism	p.LEU376PHE	N/A
Swiss-Prot	VAR_066252	Disease	p.LEU55PRO	Bardet-Biedl syndrome 10 (BBS10)
Swiss-Prot	VAR_066260	Disease	p.LEU687PRO	Bardet-Biedl syndrome 10 (BBS10)
Swiss-Prot	VAR_026394	Disease	p.LEU170SER	Bardet-Biedl syndrome 10 (BBS10)
Swiss-Prot	VAR_026403	Disease	p.LEU414SER	Bardet-Biedl syndrome 10 (BBS10)
Swiss-Prot	VAR_066258	Disease	p.LEU600SER	Bardet-Biedl syndrome 10 (BBS10)
Swiss-Prot	VAR_026404	Disease	p.LYS579ARG	Bardet-Biedl syndrome 10 (BBS10)
Swiss-Prot	VAR_066254	Disease	p.LYS188THR	Bardet-Biedl syndrome 10 (BBS10)
Swiss-Prot	VAR_066255	Polymorphism	p.MET255ILE	N/A
Swiss-Prot	VAR_026401	Disease	p.PRO363LEU	Bardet-Biedl syndrome 10 (BBS10)
dbSNP	rs35676114	Polymorphism	p.PRO539LEU	N/A
Swiss-Prot	VAR_026399	Disease	p.SER311ALA	Bardet-Biedl syndrome 10 (BBS10)
Swiss-Prot	VAR_026400	Disease	p.SER329LEU	Bardet-Biedl syndrome 10 (BBS10)
Swiss-Prot	VAR_026408	Disease	p.THR689PRO	Bardet-Biedl syndrome 10 (BBS10)
Swiss-Prot	VAR_026396	Disease	p.TYR197CYS	Bardet-Biedl syndrome 10 (BBS10)
Swiss-Prot	VAR_026405	Disease	p.TYR613CYS	Bardet-Biedl syndrome 10 (BBS10)
Swiss-Prot	VAR_026406	Disease	p.TYR613HIS	Bardet-Biedl syndrome 10 (BBS10)
Swiss-Prot	VAR_026397	Disease	p.VAL240GLY	Bardet-Biedl syndrome 10 (BBS10)

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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