Results for the protein: Q14203

Results for the Protein: Q14203

17375490

1639

DCTN1

NCBI, UniProt

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

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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 ↕
Dynactin	pfam12455	2.3e-112	526	805

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_001373	Polymorphism	p.ALA163PRO	N/A
Swiss-Prot	VAR_048678	Polymorphism	p.ARG495GLN	N/A
Swiss-Prot	VAR_063874	Polymorphism	p.ARG1101LYS	N/A
Swiss-Prot	VAR_063873	Polymorphism	p.ARG785TRP	N/A
Swiss-Prot	VAR_063871	Disease	p.GLN74PRO	Perry syndrome (PERRYS)
Swiss-Prot	VAR_063867	Disease	p.GLY71ALA	Perry syndrome (PERRYS)
Swiss-Prot	VAR_063869	Disease	p.GLY71ARG	Perry syndrome (PERRYS)
Swiss-Prot	VAR_063868	Disease	p.GLY71GLU	Perry syndrome (PERRYS)
Swiss-Prot	VAR_015850	Disease	p.GLY59SER	Neuronopathy, distal hereditary motor, 7B (HMN7B)
dbSNP	rs13420401	Polymorphism	p.LEU287MET	N/A
Swiss-Prot	VAR_063872	Polymorphism	p.MET571THR	N/A
Swiss-Prot	VAR_063875	Polymorphism	p.THR1249ILE	N/A
Swiss-Prot	VAR_063870	Disease	p.THR72PRO	Perry syndrome (PERRYS)
OMIM	601143.0005	Disease	p.ARG1101LYS	AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO
OMIM	601143.0004	Disease	p.ARG785TRP	AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO
OMIM	601143.0007	Disease	p.GLN74PRO	PERRY SYNDROME
OMIM	601143.0006	Disease	p.GLY71ARG	PERRY SYNDROME
OMIM	601143.0001	Disease	p.GLY59SER	NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIB
OMIM	601143.0003	Disease	p.MET571THR	AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO
OMIM	601143.0002	Disease	p.THR1249ILE	AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO

Please Cite: Peterson, T.A., Adadey, A., Santana-Cruz ,I., Sun, Y., Winder A, Kann, M.G., (2010) DMDM: Domain Mapping of Disease Mutations. Bioinformatics 26 (19), 2458-2459.

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