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Results for the Protein: O00462
51338734

MANBA_HUMAN RecName: Full=Beta-mannosidase; AltName: Full=Lysosomal beta A mannosidase; AltName: Full=Mannanase; Short=Mannase; Flags: Precursor

Known Diseases associated with this Protein:
  BETA-MANNOSIDOSIS
3
3
3
2
1
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Default View:

LacZ - COG3250
Glyco_hydro_2_C - pfam02836


Swiss-Prot Protein: O00462
Identical to: NP_005899
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Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
LacZCOG32502.9e-4317878
Glyco_hydro_2_Cpfam028360.00095333564

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs2866413 Polymorphismp.THR701METN/A
Swiss-ProtVAR_026232Polymorphismp.VAL253ILEN/A
dbSNPrs227368 Polymorphismp.VAL253LEUN/A
OMIM609489.0008 Diseasep.GLN426TERBETA-MANNOSIDOSIS
OMIM609489.0007 Diseasep.GLU83TERBETA-MANNOSIDOSIS
OMIM609489.0005 Diseasep.SER505PROBETA-MANNOSIDOSIS



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