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Results for the Protein: Q9UHD8
93141311

SEPT9_HUMAN RecName: Full=Septin-9; AltName: Full=MLL septin-like fusion protein MSF-A; Short=MLL septin-like fusion protein; AltName: Full=Ovarian/Breast septin; Short=Ov/Br septin; AltName: Full=Septin D1

Known Diseases associated with this Protein:
  AMYOTROPHY, HEREDITARY NEURALGIC
  HEREDITARY NEURALGIC AMYOTROPHY (HNA)
4
4
2
2
4
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Default View:

CDC3 - COG5019
CDC_Septin - cd01850
Septin - pfam00735
MMR_HSR1 - pfam01926


Swiss-Prot Protein: Q9UHD8
Identical to: NP_001106963
   Default View:






Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
CDC_Septincd018501.6e-178295569
CDC3COG50196.7e-107276586
Septinpfam007351.9e-147295574
MMR_HSR1pfam019260.0005310445

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_020667Polymorphismp.ARG76CYSN/A
Swiss-ProtVAR_033101Diseasep.ARG106TRPHereditary neuralgic amyotrophy (HNA)
dbSNPrs2627223 Polymorphismp.MET576VALN/A
dbSNPrs34587622 Polymorphismp.PRO145ARGN/A
Swiss-ProtVAR_020668Polymorphismp.PRO145LEUN/A
Swiss-ProtVAR_033102Diseasep.SER111PHEHereditary neuralgic amyotrophy (HNA)
OMIM604061.0001 Diseasep.ARG88TRPAMYOTROPHY, HEREDITARY NEURALGIC
OMIM604061.0002 Diseasep.SER93PHEAMYOTROPHY, HEREDITARY NEURALGIC



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