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Results for the Protein: Q9NTJ4
27923805

MA2C1_HUMAN RecName: Full=Alpha-mannosidase 2C1; AltName: Full=Alpha mannosidase 6A8B; AltName: Full=Alpha-D-mannoside mannohydrolase; AltName: Full=Mannosidase alpha class 2C member 1
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Default View:

Alpha-mann_mid - pfam09261
Alpha-mann_mid - smart00872
Glyco_hydro_38C - pfam07748


Swiss-Prot Protein: Q9NTJ4
Identical to: NP_006706
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Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
Alpha-mann_midpfam092617.3e-39517596
Alpha-mann_midsmart008726.4e-37518596
Glyco_hydro_38Cpfam077484.2e-1376221031

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_069180Polymorphismp.ARG323CYSN/A
Swiss-ProtVAR_061192Polymorphismp.ARG818HISN/A
Swiss-ProtVAR_049212Polymorphismp.ARG975LYSN/A
dbSNPrs3803466 Polymorphismp.VAL960ILEN/A
Swiss-ProtVAR_049211Polymorphismp.VAL950METN/A



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