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Results for the Protein: NP_002963
239735519

myotubularin-related protein 5 [Homo sapiens]

Known Diseases associated with this Protein:
  CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B3 (1 FAMILY)
2
0
2
0
0
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:

uDENN - smart00800
uDENN - pfam03456
DENN - pfam02141
DENN - smart00799
dDENN - pfam03455
dDENN - smart00801
SBF2 - pfam12335
GRAM - smart00568
GRAM - pfam02893
Myotub-related - pfam06602
PH - smart00233
PH - pfam00169
PH_GRP1-like - cd01252
- cd01246
PH_AGAP - cd01250
PH - cd00821
PH-like - cd00900
PH_Sbf1_hMTMR5 - cd01235
PH_Btk - cd01238
PH_TBC1D2A - cd01265


RefSeq Protein: NP_002963
   Default View:












Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
PH_GRP1-likecd012522.6e-0517891893
PHcd008211.3e-1417901889
PH-likecd009005.4e-1217901889
PH_Sbf1_hMTMR5cd012353.9e-5517901890
cd012465.3e-0717901889
PH_AGAPcd012500.0001717901889
PH_Btkcd012380.000217911889
PH_TBC1D2Acd012650.0003417921891
uDENNpfam034561.8e-34186
DENNpfam021413.1e-81128310
dDENNpfam034555e-22363432
GRAMpfam028933.4e-16890968
PHpfam001692.7e-1417881891
uDENNsmart008009.4e-31186
DENNsmart007991.7e-69129310
dDENNsmart008011.6e-19364432
SBF2pfam123351.7e-165540764
GRAMsmart005689.6e-16889968
Myotub-relatedpfam066023.2e-3111591252
PHsmart002332.1e-2017881891

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
OMIM603560.0001 Diseasep.MET417VALCHARCOT-MARIE-TOOTH DISEASE, TYPE 4B3 (1 family)
OMIM603560.0002 Diseasep.THR1590ALACHARCOT-MARIE-TOOTH DISEASE, TYPE 4B3 (1 family)



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