Results for the protein: NP

Results for the Protein: NP_009231

237681119

672

BRCA1

NCBI

breast cancer type 1 susceptibility protein isoform 2 [Homo sapiens]

Known Diseases associated with this Protein:
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1

15

13

15

13

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: RING - cd00162 RING - smart00184 zf-C3HC4 - pfam00097 EIN3 - pfam04873 BRCT - pfam00533 BRCT - smart00292 BRCT - cd00027	RefSeq Protein: NP_009231 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
BRCT	cd00027	6.4e-12	1670	1745
BRCT	cd00027	5.3e-11	1784	1864
zf-C3HC4	pfam00097	1.2e-11	24	64
EIN3	pfam04873	1.8e-173	648	978
BRCT	pfam00533	6e-11	1663	1744
BRCT	pfam00533	4e-12	1777	1863
RING	smart00184	4.6e-12	24	64
BRCT	smart00292	7e-07	1666	1747
BRCT	smart00292	9.2e-15	1780	1866

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs4986849	Polymorphism	p.ARG1443GLN	N/A
dbSNP	rs4986845	Polymorphism	p.ASN723ASP	N/A
dbSNP	rs4986850	Polymorphism	p.ASP693ASN	N/A
dbSNP	rs1799950	Polymorphism	p.GLN356ARG	N/A
dbSNP	rs16941	Polymorphism	p.GLU1038GLY	N/A
dbSNP	rs201196020	Polymorphism	p.HIS1881PRO	N/A
dbSNP	rs16942	Polymorphism	p.LYS1183ARG	N/A
dbSNP	rs1800062	Polymorphism	p.LYS38ASN	N/A
dbSNP	rs56082113	Polymorphism	p.LYS820GLU	N/A
dbSNP	rs799917	Polymorphism	p.PRO871LEU	N/A
dbSNP	rs4986852	Polymorphism	p.SER1040ASN	N/A
dbSNP	rs1799966	Polymorphism	p.SER1634CYS	N/A
dbSNP	rs2227945	Polymorphism	p.SER1140GLY	N/A
OMIM	113705.0037	Disease	p.ARG1669GLU	BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
OMIM	113705.0017	Disease	p.ARG1443GLY	BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
OMIM	113705.0034	Disease	p.ARG71GLY	BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
OMIM	113705.0012	Disease	p.ARG1203TER	BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
OMIM	113705.0016	Disease	p.ARG1443TER	BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
OMIM	113705.0022	Disease	p.ARG841TRP	BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
OMIM	113705.0002	Disease	p.CYS61GLY	BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
OMIM	113705.0001	Disease	p.CYS64GLY	BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
OMIM	113705.0013	Disease	p.GLU1250TER	BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
OMIM	113705.0035	Disease	p.MET1775ARG	BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
OMIM	113705.0036	Disease	p.MET1775LYS	BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
OMIM	113705.0011	Disease	p.SER1040ASN	BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
OMIM	113705.0007	Disease	p.SER766TER	BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
OMIM	113705.0009	Disease	p.SER915TER	BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
OMIM	113705.0019	Disease	p.TYR1853TER	BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1

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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