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Results for the Protein: Q9NZM1
20139241

MYOF_HUMAN RecName: Full=Myoferlin; AltName: Full=Fer-1-like protein 3
0
6
0
2
4
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Default View:

C2 - smart00239
FerI - pfam08151
FerA - pfam08165
FerB - pfam08150
DysFN - smart00693
DysFC - smart00694


Swiss-Prot Protein: Q9NZM1
Identical to: NP_038479
   Default View:




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
C2smart002391.7e-13200296
FerIpfam081511.6e-47282353
C2smart002397e-20359473
FerApfam081652.9e-34676741
FerBpfam081508.4e-57768843
DysFNsmart006931.5e-23856914
DysFNsmart006937.7e-22927983
DysFCsmart006948.7e-159921030
DysFCsmart006946.1e-1010501083
C2smart002392.1e-1411401247
C2smart002391.1e-1915541658
C2smart002391.1e-1117891919

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_031251Polymorphismp.ARG1399CYSN/A
Swiss-ProtVAR_031252Polymorphismp.ARG1783GLNN/A
Swiss-ProtVAR_049059Polymorphismp.GLY1701ALAN/A
dbSNPrs36072133 Polymorphismp.THR308SERN/A
dbSNPrs12256834 Polymorphismp.TYR1198PHEN/A
Swiss-ProtVAR_049058Polymorphismp.VAL1136ILEN/A



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