Results for the protein: NP

Results for the Protein: NP_009228

237681121

672

BRCA1

NCBI

breast cancer type 1 susceptibility protein isoform 3 [Homo sapiens]

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

15

12

15

12

0

Tips:

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Default View: EIN3 - pfam04873 BRCT - pfam00533 BRCT - smart00292 BRCT - cd00027	RefSeq Protein: NP_009228 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
BRCT	cd00027	5.3e-11	1716	1796
EIN3	pfam04873	1.8e-173	601	931
BRCT	pfam00533	6e-11	1595	1676
BRCT	pfam00533	4e-12	1709	1795
BRCT	smart00292	7e-07	1598	1679
BRCT	smart00292	9.2e-15	1712	1798

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs4986849	Polymorphism	p.ARG1396GLN	N/A
dbSNP	rs4986845	Polymorphism	p.ASN676ASP	N/A
dbSNP	rs4986850	Polymorphism	p.ASP646ASN	N/A
dbSNP	rs1799950	Polymorphism	p.GLN309ARG	N/A
dbSNP	rs16941	Polymorphism	p.GLU991GLY	N/A
dbSNP	rs201196020	Polymorphism	p.HIS1813PRO	N/A
dbSNP	rs16942	Polymorphism	p.LYS1136ARG	N/A
dbSNP	rs56082113	Polymorphism	p.LYS773GLU	N/A
dbSNP	rs799917	Polymorphism	p.PRO824LEU	N/A
dbSNP	rs4986852	Polymorphism	p.SER993ASN	N/A
dbSNP	rs1799966	Polymorphism	p.SER1566CYS	N/A
dbSNP	rs2227945	Polymorphism	p.SER1093GLY	N/A
OMIM	113705.0037	Disease	p.ARG1601GLU	BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
OMIM	113705.0017	Disease	p.ARG1396GLY	BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
OMIM	113705.0034	Disease	p.ARG24GLY	BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
OMIM	113705.0012	Disease	p.ARG1156TER	BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
OMIM	113705.0016	Disease	p.ARG1396TER	BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
OMIM	113705.0022	Disease	p.ARG794TRP	BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
OMIM	113705.0002	Disease	p.CYS14GLY	BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
OMIM	113705.0001	Disease	p.CYS17GLY	BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
OMIM	113705.0013	Disease	p.GLU1203TER	BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
OMIM	113705.0035	Disease	p.MET1707ARG	BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
OMIM	113705.0036	Disease	p.MET1707LYS	BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
OMIM	113705.0011	Disease	p.SER993ASN	BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
OMIM	113705.0007	Disease	p.SER719TER	BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
OMIM	113705.0009	Disease	p.SER868TER	BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
OMIM	113705.0019	Disease	p.TYR1785TER	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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