Results for the protein: O00300

Results for the Protein: O00300

322510101

4982

TNFRSF11B

NCBI, UniProt

TR11B_HUMAN RecName: Full=Tumor necrosis factor receptor superfamily member 11B; AltName: Full=Osteoclastogenesis inhibitory factor; AltName: Full=Osteoprotegerin; Flags: Precursor

Known Diseases associated with this Protein:
PAGET DISEASE, JUVENILE

2

2

2

1

1

Tips:

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Default View: TNFR - smart00208 TNFR - cd00185 TNFR_c6 - pfam00020 DEATH - smart00005 Death - pfam00531	Swiss-Prot Protein: O00300 Identical to: NP_002537 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
TNFR_c6	pfam00020	1e-08	65	105
TNFR_c6	pfam00020	0.00036	107	142
Death	pfam00531	5.7e-07	279	365
TNFR	smart00208	2.2e-08	24	62
TNFR	smart00208	9.6e-12	65	105
TNFR	smart00208	1e-12	107	142
DEATH	smart00005	1.6e-08	277	364

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs2073618	Polymorphism	p.ASN3LYS	N/A
Swiss-Prot	VAR_018957	Polymorphism	p.VAL104MET	N/A
OMIM	602643.0003	Disease	p.CYS87TYR	PAGET DISEASE, JUVENILE
OMIM	602643.0004	Disease	p.PHE117LEU	PAGET DISEASE, JUVENILE

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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