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Results for the Protein: P54132
1705486
641
BLM

BLM_HUMAN RecName: Full=Bloom syndrome protein; AltName: Full=DNA helicase, RecQ-like type 2; Short=RecQ2; AltName: Full=RecQ protein-like 3

Known Diseases associated with this Protein:
  BLOOM SYNDROME (BLM)
8
9
0
3
14
Tips:
 The Domains on the Default View are decided by the Domain's E-Value.

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Default View:

BDHCT - pfam08072
SSL2 - COG1061
SrmB - COG0513
RecQ - COG0514
DEXDc - smart00487
DEAD - pfam00270
DEXDc - cd00046
HELICc - cd00079
HELICc - smart00490
Helicase_C - pfam00271
RQC - pfam09382
HRDC - smart00341
HRDC - pfam00570


Swiss-Prot Protein: P54132
Identical to: NP_000048
   Default View:








Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
SSL2COG10613.4e-056271048
SrmBCOG05131.8e-066281153
RecQCOG05142.6e-1836521288
DEXDccd000461.4e-21683833
HELICccd000794.3e-38861992
DEADpfam002704.3e-38669841
Helicase_Cpfam002712.9e-25906984
HRDCpfam005703.2e-1212151282
BDHCTpfam080722.9e-29371411
DEXDcsmart004874.4e-27660865
HELICcsmart004901.7e-25902984
RQCpfam093821.8e-1510761181
HRDCsmart003415.7e-2412121292

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_051731Polymorphismp.ALA1043ASPN/A
Swiss-ProtVAR_022297Polymorphismp.ARG591GLNN/A
Swiss-ProtVAR_016033Diseasep.CYS878ARGBloom syndrome (BLM)
Swiss-ProtVAR_009140Diseasep.CYS1036PHEBloom syndrome (BLM)
Swiss-ProtVAR_006903Diseasep.CYS1055SERBloom syndrome (BLM)
Swiss-ProtVAR_009139Diseasep.CYS901TYRBloom syndrome (BLM)
Swiss-ProtVAR_006901Diseasep.GLN672ARGBloom syndrome (BLM)
Swiss-ProtVAR_022300Polymorphismp.GLU1213LYSN/A
Swiss-ProtVAR_009138Diseasep.GLY891GLUBloom syndrome (BLM)
Swiss-ProtVAR_016032Diseasep.ILE841THRBloom syndrome (BLM)
Swiss-ProtVAR_022295Polymorphismp.LYS137ARGN/A
dbSNPrs11852361 Polymorphismp.PRO868LEUN/A
Swiss-ProtVAR_014912Polymorphismp.SER1209THRN/A
Swiss-ProtVAR_006902Diseasep.THR843ILEBloom syndrome (BLM)
dbSNPrs28384991 Polymorphismp.THR298METN/A
Swiss-ProtVAR_022299Polymorphismp.VAL1205ILEN/A
dbSNPrs7167216 Polymorphismp.VAL1321ILEN/A



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