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Results for the Protein: NP_001166969
291045220

lysosomal alpha-mannosidase isoform 2 precursor [Homo sapiens]

Known Diseases associated with this Protein:
  ALPHA-MANNOSIDOSIS
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Default View:

Glyco_hydro_38 - pfam01074
Alpha-mann_mid - pfam09261
Alpha-mann_mid - smart00872
Glyco_hydro_38C - pfam07748




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
Alpha-mann_midpfam092618.2e-26385464
Alpha-mann_midsmart008721.5e-27386464
Glyco_hydro_38Cpfam077489.4e-151509999

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs34544747 Polymorphismp.ALA480SERN/A
dbSNPrs1133330 Polymorphismp.ARG337GLNN/A
dbSNPrs35836657 Polymorphismp.ASN412SERN/A
dbSNPrs61234887 Polymorphismp.GLY740ARGN/A
dbSNPrs1054486 Polymorphismp.LEU278VALN/A
dbSNPrs1054487 Polymorphismp.THR312ILEN/A
OMIM609458.0002 Diseasep.ARG759TERALPHA-MANNOSIDOSIS
OMIM609458.0004 Diseasep.ARG749TRPALPHA-MANNOSIDOSIS
OMIM609458.0003 Diseasep.GLN638TERALPHA-MANNOSIDOSIS
OMIM609458.0001 Diseasep.HIS71LEUALPHA-MANNOSIDOSIS
OMIM609458.0007 Diseasep.LEU808PROALPHA-MANNOSIDOSIS
OMIM609458.0005 Diseasep.PRO355ARGALPHA-MANNOSIDOSIS



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