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Results for the Protein: P04792
19855073

HSPB1_HUMAN RecName: Full=Heat shock protein beta-1; Short=HspB1; AltName: Full=28 kDa heat shock protein; AltName: Full=Estrogen-regulated 24 kDa protein; AltName: Full=Heat shock 27 kDa protein; Short=HSP 27; AltName: Full=Stress-responsive protein 27; Short=SRP27

Known Diseases associated with this Protein:
  CHARCOT-MARIE-TOOTH DISEASE 2F (CMT2F)
  CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F
  CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F, INCLUDED
  NEURONOPATHY, DISTAL HEREDITARY MOTOR, 2B (HMN2B)
  NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB
  NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB, AUTOSOMAL RECESSIVE
14
0
8
0
6
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Default View:

ACD_HspB8_like - cd06480
metazoan_ACD - cd06526
ACD_alphaA-crystalli - cd06497
ACD_HspB1_like - cd06475
ACD_HspB7_like - cd06479
ACD_HspB9_like - cd06481
ACD_HspB2_like - cd06476
ACD_alphaB-crystalli - cd06498
HSP20 - pfam00011
ACD_HspB4-5-6 - cd06478
ACD_HspB3_Like - cd06477
ACD_sHsps-like - cd06464
ACD_sHsps_p23-like - cd00298
ACD_HspB10 - cd06482


Swiss-Prot Protein: P04792
Identical to: NP_001531
   Default View:
















Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
ACD_HspB8_likecd064805.5e-3079169
ACD_HspB1_likecd064751.2e-7184169
ACD_alphaA-crystallicd064972.4e-3484169
metazoan_ACDcd065266.8e-4684169
ACD_HspB2_likecd064762.2e-2886169
ACD_HspB7_likecd064791.2e-1186169
ACD_HspB9_likecd064812.7e-1086169
ACD_sHsps-likecd064646.3e-2287169
ACD_HspB3_Likecd064772.8e-1587169
ACD_HspB4-5-6cd064786.1e-3887169
ACD_alphaB-crystallicd064983.2e-3587170
ACD_sHsps_p23-likecd002984.1e-1588169
ACD_HspB10cd064824.9e-0588169
HSP20pfam000113.7e-3987184

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_018506Diseasep.ARG127TRPNeuronopathy, distal hereditary motor, 2B (HMN2B)
Swiss-ProtVAR_018508Diseasep.ARG136TRPCharcot-Marie-Tooth disease 2F (CMT2F)
Swiss-ProtVAR_018510Diseasep.PRO182LEUNeuronopathy, distal hereditary motor, 2B (HMN2B)
Swiss-ProtVAR_018507Diseasep.SER135PHENeuronopathy, distal hereditary motor, 2B (HMN2B)
Swiss-ProtVAR_067085Diseasep.THR164ALACharcot-Marie-Tooth disease 2F (CMT2F)
Swiss-ProtVAR_018509Diseasep.THR151ILENeuronopathy, distal hereditary motor, 2B (HMN2B)
OMIM602195.0007 Diseasep.ARG140GLYNEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB
OMIM602195.0002 Diseasep.ARG127TRPNEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB||CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F, INCLUDED
OMIM602195.0005 Diseasep.ARG136TRPCHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F
OMIM602195.0008 Diseasep.LEU99METNEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB, AUTOSOMAL RECESSIVE
OMIM602195.0004 Diseasep.PRO182LEUNEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB
OMIM602195.0006 Diseasep.PRO182SERNEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB
OMIM602195.0001 Diseasep.SER135PHECHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F||NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB
OMIM602195.0003 Diseasep.THR151ILENEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB



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