Results for the protein: Q9NPJ1

Results for the Protein: Q9NPJ1

11133565

8195

MKKS

NCBI, UniProt

MKKS_HUMAN RecName: Full=McKusick-Kaufman/Bardet-Biedl syndromes putative chaperonin; AltName: Full=Bardet-Biedl syndrome 6 protein

Known Diseases associated with this Protein:
  BARDET-BIEDL SYNDROME 1, MODIFIER OF
  BARDET-BIEDL SYNDROME 6
  BARDET-BIEDL SYNDROME 6 (BBS6)
  BARDET-BIEDL SYNDROME 6, INCLUDED
  MCKUSICK-KAUFMAN SYNDROME
  MCKUSICK-KAUFMAN SYNDROME (MKKS)

33

5

10

3

25

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Default View: GroL - COG0459 TCP1_delta - cd03338 chaperonin_type_I_II - cd00309 cpn60 - cd03343 TCP1_theta - cd03341 chaperonin_like - cd03333	Swiss-Prot Protein: Q9NPJ1 Identical to: NP_061336, NP_740754 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
chaperonin_type_I_II	cd00309	7.3e-07	14	567
TCP1_delta	cd03338	2.1e-07	14	486
cpn60	cd03343	0.00068	19	569
TCP1_theta	cd03341	7.1e-06	29	569
chaperonin_like	cd03333	6e-05	147	403

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_038898	Disease	p.ALA181PRO	Bardet-Biedl syndrome 6 (BBS6)
Swiss-Prot	VAR_009867	Disease	p.ALA242SER	McKusick-Kaufman syndrome (MKKS)
dbSNP	rs61734546	Polymorphism	p.ALA488THR	N/A
dbSNP	rs1547	Polymorphism	p.ARG517CYS	N/A
Swiss-Prot	VAR_017039	Disease	p.ARG518HIS	Bardet-Biedl syndrome 6 (BBS6)
Swiss-Prot	VAR_017040	Disease	p.ARG155LEU	Bardet-Biedl syndrome 6 (BBS6)
Swiss-Prot	VAR_017037	Disease	p.ASP286ALA	Bardet-Biedl syndrome 6 (BBS6)
Swiss-Prot	VAR_038903	Disease	p.ASP492ASN	Bardet-Biedl syndrome 6 (BBS6)
Swiss-Prot	VAR_066263	Disease	p.CYS99ARG	Bardet-Biedl syndrome 6 (BBS6)
Swiss-Prot	VAR_013161	Disease	p.CYS499SER	Bardet-Biedl syndrome 6 (BBS6)
Swiss-Prot	VAR_066262	Disease	p.GLY41ARG	Bardet-Biedl syndrome 6 (BBS6)
Swiss-Prot	VAR_009882	Disease	p.GLY52ASP	Bardet-Biedl syndrome 6 (BBS6)
Swiss-Prot	VAR_017042	Disease	p.GLY345GLU	Bardet-Biedl syndrome 6 (BBS6)
Swiss-Prot	VAR_009865	Polymorphism	p.GLY49VAL	N/A
dbSNP	rs1545	Polymorphism	p.GLY532VAL	N/A
Swiss-Prot	VAR_009866	Disease	p.HIS84TYR	McKusick-Kaufman syndrome (MKKS)
Swiss-Prot	VAR_017035	Disease	p.ILE32MET	Bardet-Biedl syndrome 6 (BBS6)
Swiss-Prot	VAR_017041	Disease	p.ILE339VAL	Bardet-Biedl syndrome 6 (BBS6)
Swiss-Prot	VAR_009884	Disease	p.LEU277PRO	Bardet-Biedl syndrome 6 (BBS6)
Swiss-Prot	VAR_066264	Disease	p.PRO299LEU	Bardet-Biedl syndrome 6 (BBS6)
Swiss-Prot	VAR_017038	Disease	p.SER511ALA	Bardet-Biedl syndrome 6 (BBS6)
Swiss-Prot	VAR_017036	Disease	p.SER236PRO	Bardet-Biedl syndrome 6 (BBS6)
Swiss-Prot	VAR_038902	Disease	p.SER460PRO	Bardet-Biedl syndrome 6 (BBS6)
Swiss-Prot	VAR_038899	Disease	p.THR237ALA	Bardet-Biedl syndrome 6 (BBS6)
Swiss-Prot	VAR_009883	Disease	p.THR57ALA	Bardet-Biedl syndrome 6 (BBS6)
Swiss-Prot	VAR_038900	Disease	p.THR237PRO	Bardet-Biedl syndrome 6 (BBS6)
Swiss-Prot	VAR_038901	Polymorphism	p.THR325PRO	N/A
Swiss-Prot	VAR_009864	Disease	p.TYR37CYS	McKusick-Kaufman syndrome (MKKS)
OMIM	604896.0001	Disease	p.ALA242SER	MCKUSICK-KAUFMAN SYNDROME
OMIM	604896.0013	Disease	p.CYS499SER	BARDET-BIEDL SYNDROME 6
OMIM	604896.0012	Disease	p.GLN147TER	BARDET-BIEDL SYNDROME 6
OMIM	604896.0005	Disease	p.GLY52ASP	BARDET-BIEDL SYNDROME 6
OMIM	604896.0001	Disease	p.HIS84TYR	MCKUSICK-KAUFMAN SYNDROME
OMIM	604896.0008	Disease	p.LEU277PRO	BARDET-BIEDL SYNDROME 6
OMIM	604896.0010	Disease	p.THR57ALA	BARDET-BIEDL SYNDROME 6
OMIM	604896.0014	Disease	p.THR325PRO	BARDET-BIEDL SYNDROME 1, MODIFIER OF
OMIM	604896.0003	Disease	p.TYR37CYS	MCKUSICK-KAUFMAN SYNDROME\|\|BARDET-BIEDL SYNDROME 6, INCLUDED
OMIM	604896.0006	Disease	p.TYR264TER	BARDET-BIEDL SYNDROME 6

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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