Results for the protein: NP

Results for the Protein: NP_000050

119395734

675

BRCA2

NCBI

breast cancer type 2 susceptibility protein [Homo sapiens]

Known Diseases associated with this Protein:
  BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2
  FANCONI ANEMIA, COMPLEMENTATION GROUP D1
  GLIOMA SUSCEPTIBILITY 3, INCLUDED;;
  MEDULLOBLASTOMA, INCLUDED;;
  PRE-B-CELL ACUTE LYMPHOBLASTIC LEUKEMIA,
  RECLASSIFIED - VARIANT OF UNKNOWN SIGNIFICANCE
  WILMS TUMOR

7

15

7

15

0

Tips:

The Domains on the Default View are decided by the Domain's E-Value.

Clicking a check box will display or hide the correlated domain.

To view the Gene page, either click on the link to the left or the blue bar above the Protein's graphic.

Default View: BRCA2 - pfam00634 BRCA-2_helical - pfam09169 BRCA-2_OB1 - pfam09103 BRCA2DBD_OB1 - cd04493 BRCA2DBD_OB2 - cd04494 RPA2_OBF_family - cd03524 Tower - pfam09121 BRCA-2_OB3 - pfam09104 BRCA2DBD_OB3 - cd04495	RefSeq Protein: NP_000050 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
BRCA2DBD_OB2	cd04494	2.4e-143	2804	3054
RPA2_OBF_family	cd03524	2.2e-68	2817	3037
BRCA2DBD_OB3	cd04495	2.8e-46	3073	3167
BRCA2	pfam00634	9.1e-13	1002	1036
BRCA2	pfam00634	2.2e-12	1212	1246
BRCA2	pfam00634	6.5e-12	1421	1455
BRCA2	pfam00634	1.8e-14	1517	1551
BRCA2	pfam00634	5.6e-10	1664	1698
BRCA2	pfam00634	3.6e-12	1837	1871
BRCA2	pfam00634	5.6e-14	1971	2005
BRCA2	pfam00634	2.5e-12	2051	2085
BRCA-2_helical	pfam09169	1.1e-150	2479	2667
BRCA-2_OB1	pfam09103	1.5e-69	2670	2800
Tower	pfam09121	5.1e-26	2831	2872
BRCA-2_OB3	pfam09104	3e-95	3052	3190

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs11571769	Polymorphism	p.ALA2951THR	N/A
dbSNP	rs1799954	Polymorphism	p.ARG2034CYS	N/A
dbSNP	rs1799944	Polymorphism	p.ASN991ASP	N/A
dbSNP	rs766173	Polymorphism	p.ASN289HIS	N/A
dbSNP	rs144848	Polymorphism	p.ASN372HIS	N/A
dbSNP	rs4986860	Polymorphism	p.HIS2440ARG	N/A
dbSNP	rs4987047	Polymorphism	p.ILE2944PHE	N/A
dbSNP	rs11571707	Polymorphism	p.ILE2490THR	N/A
dbSNP	rs1801426	Polymorphism	p.ILE3412VAL	N/A
dbSNP	rs11571653	Polymorphism	p.MET784VAL	N/A
dbSNP	rs28897706	Polymorphism	p.SER326ARG	N/A
dbSNP	rs1046984	Polymorphism	p.SER599PHE	N/A
dbSNP	rs4987117	Polymorphism	p.THR1915MET	N/A
dbSNP	rs169547	Polymorphism	p.VAL2466ALA	N/A
dbSNP	rs11571831	Polymorphism	p.VAL3244ILE	N/A
OMIM	600185.0013	Disease	p.ASN372HIS	BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2
OMIM	600185.0032	Disease	p.GLN3066TER	FANCONI ANEMIA, COMPLEMENTATION GROUP D1
OMIM	600185.0029	Disease	p.GLU1550TER	FANCONI ANEMIA, COMPLEMENTATION GROUP D1
OMIM	600185.0030	Disease	p.LEU2510PRO	FANCONI ANEMIA, COMPLEMENTATION GROUP D1
OMIM	600185.0028	Disease	p.LEU2740TER	FANCONI ANEMIA, COMPLEMENTATION GROUP D1
OMIM	600185.0031	Disease	p.SER1882TER	WILMS TUMOR\|\|GLIOMA SUSCEPTIBILITY 3, INCLUDED;;\|\|MEDULLOBLASTOMA, INCLUDED;;\|\|PRE-B-CELL ACUTE LYMPHOBLASTIC LEUKEMIA,
OMIM	600185.0025	Disease	p.THR2722ARG	RECLASSIFIED - VARIANT OF UNKNOWN SIGNIFICANCE

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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