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Results for the Protein: NP_000470
157266298
268
AMH

muellerian-inhibiting factor precursor [Homo sapiens]

Known Diseases associated with this Protein:
  PERSISTENT MULLERIAN DUCT SYNDROME, TYPE I
2
1
2
1
0
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Default View:

AMH_N - pfam04709
TGF_beta - pfam00019
TGFB - smart00204


RefSeq Protein: NP_000470
   Default View:




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
TGF_betapfam000197.2e-40459560
TGFBsmart002042.2e-37462560

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs10407022 Polymorphismp.SER49ILEN/A
OMIM600957.0003 Diseasep.ARG191TERPERSISTENT MULLERIAN DUCT SYNDROME, TYPE I
OMIM600957.0001 Diseasep.GLU358TERPERSISTENT MULLERIAN DUCT SYNDROME, TYPE I



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