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Results for the Protein: Q86WG5
74750502

MTMRD_HUMAN RecName: Full=Myotubularin-related protein 13; AltName: Full=SET-binding factor 2

Known Diseases associated with this Protein:
  CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B2, WITH EARLY-ONSET GLAUCOMA
3
3
3
2
1
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_AGAP - cd01250
PH_Sbf1_hMTMR5 - cd01235
PH-like - cd00900
- cd01246
PH_FAPP1_FAPP2 - cd01247
PH - cd00821
PH_GRP1-like - cd01252
PH_TBC1D2A - cd01265


Swiss-Prot Protein: Q86WG5
Identical to: NP_112224
   Default View:












Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
PHcd008211.5e-1917461845
PH-likecd009007.1e-1517461845
cd012461.2e-0817461845
PH_FAPP1_FAPP2cd012474.5e-0517461845
PH_AGAPcd012501.8e-0517461845
PH_Sbf1_hMTMR5cd012352.2e-8117461846
PH_GRP1-likecd012520.000417471849
PH_TBC1D2Acd012655.2e-0517481847
uDENNpfam034569.8e-38186
DENNpfam021412.6e-86116298
dDENNpfam034557.9e-24351420
GRAMpfam028937.5e-09879957
PHpfam001699.2e-1517441847
uDENNsmart008009.6e-33186
DENNsmart007993.8e-71117298
dDENNsmart008011.8e-21352420
SBF2pfam123358.2e-171528754
GRAMsmart005687.4e-17878957
Myotub-relatedpfam066021.3e-2811471242
PHsmart002331.6e-1817441847

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs12574508 Polymorphismp.GLN1216GLUN/A
dbSNPrs7102464 Polymorphismp.GLU679LYSN/A
Swiss-ProtVAR_051766Polymorphismp.PRO303LEUN/A
OMIM607697.0003 Diseasep.ARG1196TERCHARCOT-MARIE-TOOTH DISEASE, TYPE 4B2, WITH EARLY-ONSET GLAUCOMA
OMIM607697.0004 Diseasep.ARG487TERCHARCOT-MARIE-TOOTH DISEASE, TYPE 4B2, WITH EARLY-ONSET GLAUCOMA
OMIM607697.0002 Diseasep.GLN956TERCHARCOT-MARIE-TOOTH DISEASE, TYPE 4B2, WITH EARLY-ONSET GLAUCOMA



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