Results for the protein: P49959

Results for the Protein: P49959

17380137

4361

MRE11A

NCBI, UniProt

MRE11_HUMAN RecName: Full=Double-strand break repair protein MRE11A; AltName: Full=Meiotic recombination 11 homolog 1; Short=MRE11 homolog 1; AltName: Full=Meiotic recombination 11 homolog A; Short=MRE11 homolog A

Known Diseases associated with this Protein:
ATAXIA-TELANGIECTASIA-LIKE DISORDER
ATAXIA-TELANGIECTASIA-LIKE DISORDER (ATLD)

6

9

5

1

9

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Default View: SbcD - COG0420 Metallophos - pfam00149 MPP_Mre11_N - cd00840 Mre11_DNA_bind - pfam04152	Swiss-Prot Protein: P49959 Identical to: NP_005582 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
MPP_Mre11_N	cd00840	1.3e-96	14	275
Metallophos	pfam00149	3.3e-42	13	249
Mre11_DNA_bind	pfam04152	3.1e-136	250	461

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_011628	Polymorphism	p.ARG572GLN	N/A
Swiss-Prot	VAR_011627	Polymorphism	p.ARG503HIS	N/A
Swiss-Prot	VAR_025528	Polymorphism	p.ARG305TRP	N/A
Swiss-Prot	VAR_008513	Disease	p.ASN117SER	Ataxia-telangiectasia-like disorder (ATLD)
Swiss-Prot	VAR_019288	Polymorphism	p.ASP468GLY	N/A
Swiss-Prot	VAR_036417	Polymorphism	p.HIS302TYR	N/A
Swiss-Prot	VAR_011626	Polymorphism	p.MET157VAL	N/A
dbSNP	rs1805362	Polymorphism	p.MET698VAL	N/A
Swiss-Prot	VAR_036416	Polymorphism	p.PHE237CYS	N/A
Swiss-Prot	VAR_011625	Polymorphism	p.SER104CYS	N/A
OMIM	600814.0003	Disease	p.ARG571TER	ATAXIA-TELANGIECTASIA-LIKE DISORDER
OMIM	600814.0001	Disease	p.ARG633TER	ATAXIA-TELANGIECTASIA-LIKE DISORDER
OMIM	600814.0002	Disease	p.ASN117SER	ATAXIA-TELANGIECTASIA-LIKE DISORDER
OMIM	600814.0004	Disease	p.THR481LYS	ATAXIA-TELANGIECTASIA-LIKE DISORDER
OMIM	600814.0005	Disease	p.TRP210CYS	ATAXIA-TELANGIECTASIA-LIKE DISORDER

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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