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Results for the Protein: P50570
47117856

DYN2_HUMAN RecName: Full=Dynamin-2

Known Diseases associated with this Protein:
  CHARCOT-MARIE-TOOTH DISEASE 2M (CMT2M)
  CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2M
  CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B, WITH NEUTROPENIA
  CHARCOT-MARIE-TOOTH DISEASE, DOMINANT, INTERMEDIATE TYPE, B (CMTDIB)
  LETHAL CONGENITAL CONTRACTURE SYNDROME 5 (1 FAMILY)
  LETHAL CONGENITAL CONTRACTURE SYNDROME 5 (LCCS5)
  MYOPATHY, CENTRONUCLEAR, 1
  MYOPATHY, CENTRONUCLEAR, 1 (CNM1)
33
1
11
0
23
Tips:
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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


Swiss-Prot Protein: P50570
Identical to: NP_001005360
   Default View:









Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
COG0699COG06994.8e-4378738
PH_dynamincd012562.6e-77520629
PHcd008219.4e-16522623
PH-likecd009005.5e-14522623
PH_GRP1-likecd012524.9e-05522632
Dynamin_Npfam003501.4e-8934207
Dynamin_Mpfam010312e-143216509
PHpfam001693.7e-16520625
GEDpfam022129.5e-35648739
DYNcsmart000537.3e-1956245
PHsmart002331.3e-21520625
GEDsmart003021.2e-29648739

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_068370Diseasep.ALA618ASPMyopathy, centronuclear, 1 (CNM1)
Swiss-ProtVAR_039041Diseasep.ALA618THRMyopathy, centronuclear, 1 (CNM1)
Swiss-ProtVAR_068366Diseasep.ARG522CYSMyopathy, centronuclear, 1 (CNM1)
Swiss-ProtVAR_031963Diseasep.ARG369GLNMyopathy, centronuclear, 1 (CNM1)
Swiss-ProtVAR_068368Diseasep.ARG523GLYMyopathy, centronuclear, 1 (CNM1)
Swiss-ProtVAR_068367Diseasep.ARG522HISMyopathy, centronuclear, 1 (CNM1)
Swiss-ProtVAR_031964Diseasep.ARG369TRPMyopathy, centronuclear, 1 (CNM1)
Swiss-ProtVAR_031965Diseasep.ARG465TRPMyopathy, centronuclear, 1 (CNM1)
Swiss-ProtVAR_068365Diseasep.GLU368GLNMyopathy, centronuclear, 1 (CNM1)
Swiss-ProtVAR_031962Diseasep.GLU368LYSMyopathy, centronuclear, 1 (CNM1)
Swiss-ProtVAR_068369Diseasep.GLU560LYSMyopathy, centronuclear, 1 (CNM1)
Swiss-ProtVAR_062576Diseasep.GLU650LYSMyopathy, centronuclear, 1 (CNM1)
Swiss-ProtVAR_068425Diseasep.GLY358ARGCharcot-Marie-Tooth disease 2M (CMT2M)
Swiss-ProtVAR_062574Diseasep.GLY537CYSCharcot-Marie-Tooth disease 2M (CMT2M)
Swiss-ProtVAR_062575Diseasep.LEU570HISCharcot-Marie-Tooth disease 2M (CMT2M)
Swiss-ProtVAR_068371Diseasep.LEU621PROMyopathy, centronuclear, 1 (CNM1)
Swiss-ProtVAR_031967Diseasep.LYS562GLUCharcot-Marie-Tooth disease, dominant, intermediate type, B (CMTDIB)
Swiss-ProtVAR_070163Diseasep.PHE379VALLethal congenital contracture syndrome 5 (LCCS5)
Swiss-ProtVAR_068373Diseasep.PRO627ARGMyopathy, centronuclear, 1 (CNM1)
Swiss-ProtVAR_068372Diseasep.PRO627HISMyopathy, centronuclear, 1 (CNM1)
Swiss-ProtVAR_031961Polymorphismp.PRO263LEUN/A
Swiss-ProtVAR_039042Diseasep.SER619LEUMyopathy, centronuclear, 1 (CNM1)
Swiss-ProtVAR_039043Diseasep.SER619TRPMyopathy, centronuclear, 1 (CNM1)
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.GLY533CYSCHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2M
OMIM602378.0009 Diseasep.LEU566HISCHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2M
OMIM602378.0002 Diseasep.LYS558GLUCHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B, WITH NEUTROPENIA
OMIM602378.0013 Diseasep.PHE379VALLETHAL CONGENITAL CONTRACTURE SYNDROME 5 (1 family)
OMIM602378.0010 Diseasep.SER619LEUMYOPATHY, CENTRONUCLEAR, 1
OMIM602378.0011 Diseasep.SER619TRPMYOPATHY, CENTRONUCLEAR, 1



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