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Results for the Protein: P49959
17380137

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 ↕
SbcDCOG04201.1e-6013575
MPP_Mre11_Ncd008401.3e-9614275
Metallophospfam001493.3e-4213249
Mre11_DNA_bindpfam041523.1e-136250461

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_011628Polymorphismp.ARG572GLNN/A
Swiss-ProtVAR_011627Polymorphismp.ARG503HISN/A
Swiss-ProtVAR_025528Polymorphismp.ARG305TRPN/A
Swiss-ProtVAR_008513Diseasep.ASN117SERAtaxia-telangiectasia-like disorder (ATLD)
Swiss-ProtVAR_019288Polymorphismp.ASP468GLYN/A
Swiss-ProtVAR_036417Polymorphismp.HIS302TYRN/A
Swiss-ProtVAR_011626Polymorphismp.MET157VALN/A
dbSNPrs1805362 Polymorphismp.MET698VALN/A
Swiss-ProtVAR_036416Polymorphismp.PHE237CYSN/A
Swiss-ProtVAR_011625Polymorphismp.SER104CYSN/A
OMIM600814.0003 Diseasep.ARG571TERATAXIA-TELANGIECTASIA-LIKE DISORDER
OMIM600814.0001 Diseasep.ARG633TERATAXIA-TELANGIECTASIA-LIKE DISORDER
OMIM600814.0002 Diseasep.ASN117SERATAXIA-TELANGIECTASIA-LIKE DISORDER
OMIM600814.0004 Diseasep.THR481LYSATAXIA-TELANGIECTASIA-LIKE DISORDER
OMIM600814.0005 Diseasep.TRP210CYSATAXIA-TELANGIECTASIA-LIKE DISORDER



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