Results for the protein: Q9Y6Q6

Results for the Protein: Q9Y6Q6

19924309

8792

TNFRSF11A

NCBI, UniProt

TNR11_HUMAN RecName: Full=Tumor necrosis factor receptor superfamily member 11A; AltName: Full=Osteoclast differentiation factor receptor; Short=ODFR; AltName: Full=Receptor activator of NF-KB; AltName: CD_antigen=CD265; Flags: Precursor

Known Diseases associated with this Protein:
OSTEOPETROSIS, AUTOSOMAL RECESSIVE 7
OSTEOPETROSIS, AUTOSOMAL RECESSIVE 7 (OPTB7)

10

2

5

2

5

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Default View: TNFR - cd00185 TNFR - smart00208 TNFR_c6 - pfam00020	Swiss-Prot Protein: Q9Y6Q6 Identical to: NP_003830 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
TNFR_c6	pfam00020	5.1e-05	34	68
TNFR	smart00208	6.7e-08	34	68
TNFR	smart00208	2.5e-05	71	112
TNFR	smart00208	1.1e-05	114	151
TNFR	smart00208	8.6e-09	154	194

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_046793	Disease	p.ALA244SER	Osteopetrosis, autosomal recessive 7 (OPTB7)
dbSNP	rs1805034	Polymorphism	p.ALA192VAL	N/A
Swiss-Prot	VAR_046789	Disease	p.ARG129CYS	Osteopetrosis, autosomal recessive 7 (OPTB7)
Swiss-Prot	VAR_046791	Disease	p.ARG170GLY	Osteopetrosis, autosomal recessive 7 (OPTB7)
Swiss-Prot	VAR_046792	Disease	p.CYS175ARG	Osteopetrosis, autosomal recessive 7 (OPTB7)
Swiss-Prot	VAR_046788	Disease	p.GLY53ARG	Osteopetrosis, autosomal recessive 7 (OPTB7)
dbSNP	rs35211496	Polymorphism	p.HIS141TYR	N/A
OMIM	603499.0006	Disease	p.ALA244SER	OSTEOPETROSIS, AUTOSOMAL RECESSIVE 7
OMIM	603499.0005	Disease	p.ARG129CYS	OSTEOPETROSIS, AUTOSOMAL RECESSIVE 7
OMIM	603499.0003	Disease	p.ARG170GLY	OSTEOPETROSIS, AUTOSOMAL RECESSIVE 7
OMIM	603499.0004	Disease	p.CYS175ARG	OSTEOPETROSIS, AUTOSOMAL RECESSIVE 7
OMIM	603499.0007	Disease	p.GLY53ARG	OSTEOPETROSIS, AUTOSOMAL RECESSIVE 7

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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