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Results for the Protein: P16278
215273939

BGAL_HUMAN RecName: Full=Beta-galactosidase; AltName: Full=Acid beta-galactosidase; Short=Lactase; AltName: Full=Elastin receptor 1; Flags: Precursor

Known Diseases associated with this Protein:
  GM1-GANGLIOSIDOSIS 1 (GM1G1)
  GM1-GANGLIOSIDOSIS 2 (GM1G2)
  GM1-GANGLIOSIDOSIS 3 (GM1G3)
  GM1-GANGLIOSIDOSIS, TYPE I
  GM1-GANGLIOSIDOSIS, TYPE I, INCLUDED
  GM1-GANGLIOSIDOSIS, TYPE I, WITH CARDIAC INVOLVEMENT
  GM1-GANGLIOSIDOSIS, TYPE II
  GM1-GANGLIOSIDOSIS, TYPE III
  MUCOPOLYSACCHARIDOSIS 4B (MPS4B)
  MUCOPOLYSACCHARIDOSIS TYPE IVB
101
10
22
3
86
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LacA - COG1874
Glyco_hydro_35 - pfam01301
Glyco_hydro_42 - pfam02449


Swiss-Prot Protein: P16278
Identical to: NP_000395
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Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
LacACOG18746.3e-0934611
Glyco_hydro_35pfam013012.4e-19240357
Glyco_hydro_42pfam024491.4e-0759360

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_062346Diseasep.ARG148CYSGM1-gangliosidosis 3 (GM1G3)
Swiss-ProtVAR_003332Diseasep.ARG201CYSGM1-gangliosidosis 2 (GM1G2)
Swiss-ProtVAR_008676Diseasep.ARG208CYSGM1-gangliosidosis 1 (GM1G1)
Swiss-ProtVAR_008678Diseasep.ARG482CYSMucopolysaccharidosis 4B (MPS4B)
Swiss-ProtVAR_003329Diseasep.ARG49CYSGM1-gangliosidosis 1 (GM1G1)
Swiss-ProtVAR_008680Polymorphismp.ARG521CYSN/A
Swiss-ProtVAR_026129Diseasep.ARG59CYSGM1-gangliosidosis 1 (GM1G1)
Swiss-ProtVAR_037946Diseasep.ARG590CYSGM1-gangliosidosis 1 (GM1G1)
Swiss-ProtVAR_062367Diseasep.ARG442GLNGM1-gangliosidosis 1 (GM1G1)
Swiss-ProtVAR_003335Diseasep.ARG457GLNGM1-gangliosidosis 3 (GM1G3)
Swiss-ProtVAR_062341Diseasep.ARG68GLNGM1-gangliosidosis 2 (GM1G2)
Swiss-ProtVAR_013542Diseasep.ARG201HISGM1-gangliosidosis 2 (GM1G2)
Swiss-ProtVAR_003336Diseasep.ARG482HISMucopolysaccharidosis 4B (MPS4B)
Swiss-ProtVAR_062340Diseasep.ARG49HISGM1-gangliosidosis 3 (GM1G3)
Swiss-ProtVAR_008672Diseasep.ARG59HISGM1-gangliosidosis 1 (GM1G1)
Swiss-ProtVAR_008683Diseasep.ARG590HISGM1-gangliosidosis 2 (GM1G2)
Swiss-ProtVAR_008675Diseasep.ARG121SERGM1-gangliosidosis 1 (GM1G1)
Swiss-ProtVAR_013541Diseasep.ARG148SERGM1-gangliosidosis 1 (GM1G1)
Swiss-ProtVAR_053875Polymorphismp.ARG109TRPN/A
Swiss-ProtVAR_037947Polymorphismp.ARG595TRPN/A
Swiss-ProtVAR_026130Diseasep.ARG68TRPGM1-gangliosidosis 2 (GM1G2)
Swiss-ProtVAR_062356Polymorphismp.ASN318HISN/A
Swiss-ProtVAR_013552Diseasep.ASN484LYSMucopolysaccharidosis 4B (MPS4B)
Swiss-ProtVAR_013546Diseasep.ASN266SERGM1-gangliosidosis 3 (GM1G3)
Swiss-ProtVAR_013549Diseasep.ASP332ASNGM1-gangliosidosis 1 (GM1G1)
Swiss-ProtVAR_062366Diseasep.ASP441ASNGM1-gangliosidosis 1 (GM1G1)
Swiss-ProtVAR_008679Diseasep.ASP491ASNGM1-gangliosidosis 1 (GM1G1)
Swiss-ProtVAR_062358Diseasep.ASP332GLUGM1-gangliosidosis 1 (GM1G1)
Swiss-ProtVAR_026131Diseasep.ASP151TYRGM1-gangliosidosis 1 (GM1G1)
Swiss-ProtVAR_062352Diseasep.ASP198TYRMucopolysaccharidosis 4B (MPS4B)
Swiss-ProtVAR_013543Diseasep.ASP214TYRGM1-gangliosidosis 3 (GM1G3)
Swiss-ProtVAR_037943Diseasep.ASP491TYRGM1-gangliosidosis 1 (GM1G1)
Swiss-ProtVAR_062348Diseasep.ASP151VALGM1-gangliosidosis 1 (GM1G1)
dbSNPrs4302331 Polymorphismp.CYS521ARGN/A
Swiss-ProtVAR_062350Diseasep.GLN184ARGGM1-gangliosidosis 1 (GM1G1)
Swiss-ProtVAR_062354Diseasep.GLN255HISGM1-gangliosidosis 1 (GM1G1)
Swiss-ProtVAR_013550Diseasep.GLN408PROMucopolysaccharidosis 4B (MPS4B)
Swiss-ProtVAR_008686Diseasep.GLU632GLYGM1-gangliosidosis 2 (GM1G2)
Swiss-ProtVAR_003331Diseasep.GLY123ARGGM1-gangliosidosis 1 (GM1G1)
Swiss-ProtVAR_062351Diseasep.GLY190ASPGM1-gangliosidosis 1 (GM1G1)
Swiss-ProtVAR_038346Diseasep.GLY272ASPGM1-gangliosidosis 1 (GM1G1)
Swiss-ProtVAR_013555Diseasep.GLY579ASPGM1-gangliosidosis 2 (GM1G2)
Swiss-ProtVAR_013553Diseasep.GLY494CYSGM1-gangliosidosis 1 (GM1G1)
Swiss-ProtVAR_013551Diseasep.GLY438GLUMucopolysaccharidosis 4B (MPS4B)
Swiss-ProtVAR_037945Polymorphismp.GLY554GLUN/A
Swiss-ProtVAR_062369Diseasep.GLY494SERMucopolysaccharidosis 4B (MPS4B)
Swiss-ProtVAR_037937Diseasep.GLY134VALGM1-gangliosidosis 1 (GM1G1)
Swiss-ProtVAR_013548Diseasep.HIS281TYRGM1-gangliosidosis 3 (GM1G3)
Swiss-ProtVAR_003330Diseasep.ILE51THRGM1-gangliosidosis 3 (GM1G3)
Swiss-ProtVAR_037939Diseasep.LEU155ARGGM1-gangliosidosis 3 (GM1G3)
Swiss-ProtVAR_062365Diseasep.LEU422ARGGM1-gangliosidosis 1 (GM1G1)
Swiss-ProtVAR_026133Polymorphismp.LEU436PHEN/A
Swiss-ProtVAR_062349Diseasep.LEU173PROGM1-gangliosidosis 1 (GM1G1)
Swiss-ProtVAR_037940Diseasep.LEU162SERGM1-gangliosidosis 1 (GM1G1)
Swiss-ProtVAR_062355Diseasep.LEU264SERGM1-gangliosidosis 2 (GM1G2)
Swiss-ProtVAR_008682Diseasep.LYS578ARGGM1-gangliosidosis 1 (GM1G1)
Swiss-ProtVAR_062360Diseasep.LYS346ASNGM1-gangliosidosis 1 (GM1G1)
Swiss-ProtVAR_062342Diseasep.LYS73GLUGM1-gangliosidosis 3 (GM1G3)
Swiss-ProtVAR_062344Diseasep.MET132THRGM1-gangliosidosis 1 (GM1G1)
Swiss-ProtVAR_062362Diseasep.PRO397ALAMucopolysaccharidosis 4B (MPS4B)
dbSNPrs7637099 Diseasep.PRO10LEUGM1-gangliosidosis 1 (GM1G1)
Swiss-ProtVAR_037944Diseasep.PRO549LEUGM1-gangliosidosis 1 (GM1G1)
Swiss-ProtVAR_062345Diseasep.PRO136SERGM1-gangliosidosis 1 (GM1G1)
Swiss-ProtVAR_013545Diseasep.PRO263SERGM1-gangliosidosis 3 (GM1G3)
Swiss-ProtVAR_062370Diseasep.PRO597SERGM1-gangliosidosis 1 (GM1G1)
dbSNPrs73826339 Polymorphismp.SER532CYSN/A
Swiss-ProtVAR_008681Polymorphismp.SER532GLYN/A
Swiss-ProtVAR_037942Polymorphismp.SER434LEUN/A
Swiss-ProtVAR_062347Diseasep.SER149PHEMucopolysaccharidosis 4B (MPS4B)
Swiss-ProtVAR_013554Diseasep.THR500ALAMucopolysaccharidosis 4B (MPS4B)
Swiss-ProtVAR_062357Diseasep.THR329ILEGM1-gangliosidosis 1 (GM1G1)
Swiss-ProtVAR_062363Diseasep.THR420LYSGM1-gangliosidosis 3 (GM1G3)
Swiss-ProtVAR_026132Diseasep.THR239METGM1-gangliosidosis 1 (GM1G1)
Swiss-ProtVAR_008673Diseasep.THR82METGM1-gangliosidosis 3 (GM1G3)
Swiss-ProtVAR_062364Diseasep.THR420PROGM1-gangliosidosis 1 (GM1G1)
Swiss-ProtVAR_003337Diseasep.TRP509CYSMucopolysaccharidosis 4B (MPS4B)
Swiss-ProtVAR_003333Diseasep.TRP273LEUMucopolysaccharidosis 4B (MPS4B)
Swiss-ProtVAR_008685Diseasep.TYR591ASNGM1-gangliosidosis 1 (GM1G1)
Swiss-ProtVAR_013547Diseasep.TYR270ASPGM1-gangliosidosis 3 (GM1G3)
Swiss-ProtVAR_062353Diseasep.TYR199CYSGM1-gangliosidosis 1 (GM1G1)
Swiss-ProtVAR_003334Diseasep.TYR316CYSGM1-gangliosidosis 1 (GM1G1)
Swiss-ProtVAR_062361Diseasep.TYR347CYSGM1-gangliosidosis 1 (GM1G1)
Swiss-ProtVAR_062368Diseasep.TYR444CYSMucopolysaccharidosis 4B (MPS4B)
Swiss-ProtVAR_008684Diseasep.TYR591CYSGM1-gangliosidosis 1 (GM1G1)
Swiss-ProtVAR_062343Diseasep.TYR83CYSMucopolysaccharidosis 4B (MPS4B)
Swiss-ProtVAR_062359Diseasep.TYR333HISGM1-gangliosidosis 2 (GM1G2)
Swiss-ProtVAR_008674Diseasep.TYR83HISMucopolysaccharidosis 4B (MPS4B)
Swiss-ProtVAR_013544Diseasep.VAL216ALAGM1-gangliosidosis 1 (GM1G1)
Swiss-ProtVAR_008677Diseasep.VAL240METGM1-gangliosidosis 1 (GM1G1)
OMIM611458.0003 Diseasep.ARG201CYSGM1-GANGLIOSIDOSIS, TYPE II
OMIM611458.0017 Diseasep.ARG208CYSGM1-GANGLIOSIDOSIS, TYPE I
OMIM611458.0016 Diseasep.ARG482CYSMUCOPOLYSACCHARIDOSIS TYPE IVB
OMIM611458.0001 Diseasep.ARG49CYSGM1-GANGLIOSIDOSIS, TYPE I
OMIM611458.0008 Diseasep.ARG457GLNGM1-GANGLIOSIDOSIS, TYPE III
OMIM611458.0010 Diseasep.ARG482HISMUCOPOLYSACCHARIDOSIS TYPE IVB||GM1-GANGLIOSIDOSIS, TYPE I, INCLUDED
OMIM611458.0023 Diseasep.ARG59HISGM1-GANGLIOSIDOSIS, TYPE I, WITH CARDIAC INVOLVEMENT||GM1-GANGLIOSIDOSIS, TYPE I, INCLUDED
OMIM611458.0019 Diseasep.ARG351TERGM1-GANGLIOSIDOSIS, TYPE I, WITH CARDIAC INVOLVEMENT
OMIM611458.0002 Diseasep.ARG457TERGM1-GANGLIOSIDOSIS, TYPE I
OMIM611458.0022 Diseasep.ARG68TRPGM1-GANGLIOSIDOSIS, TYPE II
OMIM611458.0021 Diseasep.GLN408PROMUCOPOLYSACCHARIDOSIS TYPE IVB
OMIM611458.0006 Diseasep.GLY123ARGGM1-GANGLIOSIDOSIS, TYPE I
OMIM611458.0018 Diseasep.GLY438GLUMUCOPOLYSACCHARIDOSIS TYPE IVB
OMIM611458.0004 Diseasep.ILE51THRGM1-GANGLIOSIDOSIS, TYPE III
OMIM611458.0020 Diseasep.THR500ALAMUCOPOLYSACCHARIDOSIS TYPE IVB
OMIM611458.0013 Diseasep.THR82METGM1-GANGLIOSIDOSIS, TYPE III
OMIM611458.0011 Diseasep.TRP509CYSMUCOPOLYSACCHARIDOSIS TYPE IVB
OMIM611458.0009 Diseasep.TRP273LEUMUCOPOLYSACCHARIDOSIS TYPE IVB
OMIM611458.0025 Diseasep.TYR591ASNGM1-GANGLIOSIDOSIS, TYPE I, WITH CARDIAC INVOLVEMENT
OMIM611458.0007 Diseasep.TYR316CYSGM1-GANGLIOSIDOSIS, TYPE I
OMIM611458.0026 Diseasep.TYR591CYSGM1-GANGLIOSIDOSIS, TYPE I, WITH CARDIAC INVOLVEMENT
OMIM611458.0015 Diseasep.TYR83HISMUCOPOLYSACCHARIDOSIS TYPE IVB



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