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Results for the Protein: NP_958438
41350318

myotubularin-related protein 2 isoform 2 [Homo sapiens]

Known Diseases associated with this Protein:
  CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B1
3
2
3
2
0
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Default View:

GRAM - smart00568
GRAM - pfam02893
Myotub-related - pfam06602
PTPc_motif - smart00404
PTPc_DSPc - smart00012


RefSeq Protein: NP_958438
   Default View:




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
GRAMsmart005681.1e-15567
Myotub-relatedpfam066028.4e-77162279
PTPc_DSPcsmart000121.7e-24293441
PTPc_motifsmart004041.7e-24293441

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs558018 Polymorphismp.ASN473SERN/A
dbSNPrs61735578 Polymorphismp.GLU430GLNN/A
OMIM603557.0001 Diseasep.GLN354TERCHARCOT-MARIE-TOOTH DISEASE, TYPE 4B1
OMIM603557.0004 Diseasep.GLN410TERCHARCOT-MARIE-TOOTH DISEASE, TYPE 4B1
OMIM603557.0003 Diseasep.GLU204TERCHARCOT-MARIE-TOOTH DISEASE, TYPE 4B1



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