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Results for the Protein: Q16828
108860971

DUS6_HUMAN RecName: Full=Dual specificity protein phosphatase 6; AltName: Full=Dual specificity protein phosphatase PYST1; AltName: Full=Mitogen-activated protein kinase phosphatase 3; Short=MAP kinase phosphatase 3; Short=MKP-3

Known Diseases associated with this Protein:
  HYPOGONADOTROPIC HYPOGONADISM 19 WITH ANOSMIA
  HYPOGONADOTROPIC HYPOGONADISM 19 WITH ANOSMIA, SUSCEPTIBILITY TO
  HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA (HH19)
  HYPOGONADOTROPIC HYPOGONADISM 19 WITHOUT ANOSMIA
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Default View:

DSP_MapKP - cd01446
Rhodanese - pfam00581
RHOD - cd00158
RHOD - smart00450
CDC14 - COG2453
DSPc - cd00127
DSPc - smart00195
DSPc - pfam00782


Swiss-Prot Protein: Q16828
Identical to: NP_001937
   Default View:






Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
DSP_MapKPcd014461.3e-5917147
RHODcd001589.8e-0822140
DSPccd001271.4e-74206344
Rhodanesepfam005814.5e-2219142
CDC14COG24532.2e-09181365
DSPcpfam007828.2e-65214346
RHODsmart004507.7e-1530145
DSPcsmart001951e-70207346

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_051751Polymorphismp.ASN313ILEN/A
Swiss-ProtVAR_069945Diseasep.ASN189SERHypogonadotropic hypogonadism 19 with or without anosmia (HH19)
Swiss-ProtVAR_069943Diseasep.PHE77ILEHypogonadotropic hypogonadism 19 with or without anosmia (HH19)
dbSNPrs770087 Polymorphismp.SER144ALAN/A
Swiss-ProtVAR_069944Diseasep.SER182PHEHypogonadotropic hypogonadism 19 with or without anosmia (HH19)
dbSNPrs61734372 Polymorphismp.THR87ILEN/A
Swiss-ProtVAR_069946Diseasep.THR346METHypogonadotropic hypogonadism 19 with or without anosmia (HH19)
dbSNPrs2279574 Polymorphismp.VAL114LEUN/A
OMIM602748.0001 Diseasep.ASN189SERHYPOGONADOTROPIC HYPOGONADISM 19 WITH ANOSMIA
OMIM602748.0004 Diseasep.PHE77ILEHYPOGONADOTROPIC HYPOGONADISM 19 WITHOUT ANOSMIA
OMIM602748.0002 Diseasep.SER182PHEHYPOGONADOTROPIC HYPOGONADISM 19 WITH ANOSMIA, SUSCEPTIBILITY TO
OMIM602748.0003 Diseasep.THR346METHYPOGONADOTROPIC HYPOGONADISM 19 WITH ANOSMIA, SUSCEPTIBILITY TO



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