Home News About DMDM Database Statistics Research Publications Contact  

Results for the Protein: Q14203
17375490

DCTN1_HUMAN RecName: Full=Dynactin subunit 1; AltName: Full=150 kDa dynein-associated polypeptide; AltName: Full=DAP-150; Short=DP-150; AltName: Full=p135; AltName: Full=p150-glued

Known Diseases associated with this Protein:
  AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO
  NEURONOPATHY, DISTAL HEREDITARY MOTOR, 7B (HMN7B)
  NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIB
  PERRY SYNDROME
  PERRY SYNDROME (PERRYS)
13
7
7
1
12
Tips:
 The Domains on the Default View are decided by the Domain's E-Value.

 Clicking a check box will display or hide the correlated domain.

 To view the Gene page, either click on the link to the left or the blue bar above the Protein's graphic.



Default View:

CAP_GLY - pfam01302
Dynactin - pfam12455


Swiss-Prot Protein: Q14203
Identical to: NP_004073
   Default View:



Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
CAP_GLYpfam013026.1e-342995
Dynactinpfam124552.3e-112526805

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_001373Polymorphismp.ALA163PRON/A
Swiss-ProtVAR_048678Polymorphismp.ARG495GLNN/A
Swiss-ProtVAR_063874Polymorphismp.ARG1101LYSN/A
Swiss-ProtVAR_063873Polymorphismp.ARG785TRPN/A
Swiss-ProtVAR_063871Diseasep.GLN74PROPerry syndrome (PERRYS)
Swiss-ProtVAR_063867Diseasep.GLY71ALAPerry syndrome (PERRYS)
Swiss-ProtVAR_063869Diseasep.GLY71ARGPerry syndrome (PERRYS)
Swiss-ProtVAR_063868Diseasep.GLY71GLUPerry syndrome (PERRYS)
Swiss-ProtVAR_015850Diseasep.GLY59SERNeuronopathy, distal hereditary motor, 7B (HMN7B)
dbSNPrs13420401 Polymorphismp.LEU287METN/A
Swiss-ProtVAR_063872Polymorphismp.MET571THRN/A
Swiss-ProtVAR_063875Polymorphismp.THR1249ILEN/A
Swiss-ProtVAR_063870Diseasep.THR72PROPerry syndrome (PERRYS)
OMIM601143.0005 Diseasep.ARG1101LYSAMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO
OMIM601143.0004 Diseasep.ARG785TRPAMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO
OMIM601143.0007 Diseasep.GLN74PROPERRY SYNDROME
OMIM601143.0006 Diseasep.GLY71ARGPERRY SYNDROME
OMIM601143.0001 Diseasep.GLY59SERNEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIB
OMIM601143.0003 Diseasep.MET571THRAMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO
OMIM601143.0002 Diseasep.THR1249ILEAMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO



   |   1000 Hilltop Circle, Baltimore, MD 21250   |   Department of Biological Sciences   |   Phone: 410-455-2258