Results for the protein: O60934

Results for the Protein: O60934

74762960

4683

NBN

NCBI, UniProt

NBN_HUMAN RecName: Full=Nibrin; AltName: Full=Cell cycle regulatory protein p95; AltName: Full=Nijmegen breakage syndrome protein 1

Known Diseases associated with this Protein:
  APLASTIC ANEMIA
  BREAST CANCER (BC)
  LYMPHOBLASTIC LEUKEMIA, ACUTE, SUSCEPTIBILITY TO, INCLUDED
  NIJMEGEN BREAKAGE SYNDROME

5

14

4

2

13

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Default View: FHA - smart00240 Nbs1_C - pfam08599	Swiss-Prot Protein: O60934 Identical to: NP_002476 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
Nbs1_C	pfam08599	2.9e-50	682	746

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_025799	Polymorphism	p.ARG215TRP	N/A
Swiss-Prot	VAR_051226	Polymorphism	p.ASN142SER	N/A
Swiss-Prot	VAR_025793	Polymorphism	p.ASP95ASN	N/A
Swiss-Prot	VAR_025800	Polymorphism	p.GLN216LYS	N/A
dbSNP	rs1805794	Polymorphism	p.GLU185GLN	N/A
Swiss-Prot	VAR_025796	Polymorphism	p.ILE171VAL	N/A
Swiss-Prot	VAR_025803	Polymorphism	p.LEU574ILE	N/A
Swiss-Prot	VAR_025795	Disease	p.LEU150PHE	Breast cancer (BC)
Swiss-Prot	VAR_025794	Polymorphism	p.LYS105ASN	N/A
Swiss-Prot	VAR_051227	Polymorphism	p.LYS408GLU	N/A
dbSNP	rs769420	Polymorphism	p.PRO266LEU	N/A
Swiss-Prot	VAR_025792	Polymorphism	p.SER93LEU	N/A
Swiss-Prot	VAR_025802	Polymorphism	p.THR497ALA	N/A
Swiss-Prot	VAR_064738	Polymorphism	p.TYR679HIS	N/A
Swiss-Prot	VAR_025798	Polymorphism	p.VAL210PHE	N/A
OMIM	602667.0009	Disease	p.ARG215TRP	NIJMEGEN BREAKAGE SYNDROME
OMIM	602667.0006	Disease	p.GLN326TER	NIJMEGEN BREAKAGE SYNDROME
OMIM	602667.0007	Disease	p.ILE171VAL	APLASTIC ANEMIA\|\|LYMPHOBLASTIC LEUKEMIA, ACUTE, SUSCEPTIBILITY TO, INCLUDED
OMIM	602667.0008	Disease	p.TYR363TER	NIJMEGEN BREAKAGE SYNDROME

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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