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Results for the Protein: NP_001005362
56549125

dynamin-2 isoform 4 [Homo sapiens]

Known Diseases associated with this Protein:
  CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2M
  CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B, WITH NEUTROPENIA
  LETHAL CONGENITAL CONTRACTURE SYNDROME 5 (1 FAMILY)
  MYOPATHY, CENTRONUCLEAR, 1
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Default View:

DYNc - smart00053
Dynamin_N - pfam00350
COG0699 - COG0699
Dynamin_M - pfam01031
PH - smart00233
PH_dynamin - cd01256
PH - pfam00169
PH-like - cd00900
PH_GRP1-like - cd01252
PH - cd00821
GED - smart00302
GED - pfam02212




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
PH_dynamincd012562.6e-77516625
PHcd008219.4e-16518619
PH-likecd009005.5e-14518619
PH_GRP1-likecd012524.9e-05518628
Dynamin_Npfam003501.4e-8934207
Dynamin_Mpfam010313.7e-142216509
PHpfam001693.7e-16516621
GEDpfam022129.5e-35644735
DYNcsmart000537.3e-1956245
PHsmart002331.3e-21516621
GEDsmart003021.2e-29644735

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
OMIM602378.0004 Diseasep.ARG369GLNMYOPATHY, CENTRONUCLEAR, 1
OMIM602378.0005 Diseasep.ARG369TRPMYOPATHY, CENTRONUCLEAR, 1
OMIM602378.0006 Diseasep.ARG465TRPMYOPATHY, CENTRONUCLEAR, 1
OMIM602378.0007 Diseasep.GLU368LYSMYOPATHY, CENTRONUCLEAR, 1
OMIM602378.0012 Diseasep.GLY358ARGCHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2M
OMIM602378.0008 Diseasep.GLY529CYSCHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2M
OMIM602378.0009 Diseasep.LEU562HISCHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2M
OMIM602378.0002 Diseasep.LYS554GLUCHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B, WITH NEUTROPENIA
OMIM602378.0013 Diseasep.PHE379VALLETHAL CONGENITAL CONTRACTURE SYNDROME 5 (1 family)
OMIM602378.0010 Diseasep.SER615LEUMYOPATHY, CENTRONUCLEAR, 1
OMIM602378.0011 Diseasep.SER615TRPMYOPATHY, CENTRONUCLEAR, 1



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