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Results for the Protein: NP_001177765
299890871

dynactin subunit 1 isoform 5 [Homo sapiens]

Known Diseases associated with this Protein:
  AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO
  NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIB
  PERRY SYNDROME
7
1
7
1
0
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Default View:

CAP_GLY - pfam01302
Dynactin - pfam12455




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
Dynactinpfam124552.3e-112489768

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs13420401 Polymorphismp.LEU250METN/A
OMIM601143.0005 Diseasep.ARG1059LYSAMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO
OMIM601143.0004 Diseasep.ARG748TRPAMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO
OMIM601143.0007 Diseasep.GLN57PROPERRY SYNDROME
OMIM601143.0006 Diseasep.GLY54ARGPERRY SYNDROME
OMIM601143.0001 Diseasep.GLY42SERNEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIB
OMIM601143.0003 Diseasep.MET534THRAMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO
OMIM601143.0002 Diseasep.THR1207ILEAMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO



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