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Results for the Protein: P10253
317373572
GAA

LYAG_HUMAN RecName: Full=Lysosomal alpha-glucosidase; AltName: Full=Acid maltase; AltName: Full=Aglucosidase alfa; Contains: RecName: Full=76 kDa lysosomal alpha-glucosidase; Contains: RecName: Full=70 kDa lysosomal alpha-glucosidase; Flags: Precursor

Known Diseases associated with this Protein:
  ACID ALPHA-GLUCOSIDASE, ALLELE 2
  ACID ALPHA-GLUCOSIDASE, ALLELE 4
  GLYCOGEN STORAGE DISEASE 2 (GSD2)
  GLYCOGEN STORAGE DISEASE II
  GLYCOGEN STORAGE DISEASE II, ADULT FORM
  GLYCOGEN STORAGE DISEASE II, INFANTILE FORM
143
25
13
8
147
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Default View:

PD - smart00018
Trefoil - cd00111
Trefoil - pfam00088
COG1501 - COG1501
Glyco_hydro_31 - pfam01055
GH31_glucosidase_KIA - cd06592
GH31_MGAM_SI_GAA - cd06602
GH31_GANC_GANAB_alph - cd06603
GH31_glucosidase_II_ - cd06604
GH31_lyase_GLase - cd06601
GH31_glycosidase_Aec - cd06599
GH31 - cd06589
GH31_xylosidase_YicI - cd06593
GH31_MGAM-like - cd06600
GH31_transferase_Cts - cd06597
GH31_transferase_Cts - cd06598
GH31_glucosidase_Yih - cd06594
GH31_xylosidase_XylS - cd06591
GH31_CPE1046 - cd06596
GH31_xylosidase_XylS - cd06595




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
Trefoilcd001111.8e-2280131
COG1501COG15011.8e-131111928
GH31_glucosidase_KIAcd065921.4e-08345682
GH31cd065897.5e-93359696
GH31_xylosidase_XylScd065916e-14359696
GH31_xylosidase_YicIcd065939.9e-20359705
GH31_transferase_Ctscd065971.1e-08359704
GH31_glucosidase_Yihcd065941.1e-05359696
GH31_transferase_Ctscd065981.1e-20359703
GH31_glycosidase_Aeccd065992.8e-14359695
GH31_MGAM-likecd066004.4e-148359720
GH31_lyase_GLasecd066011.2e-10359703
GH31_MGAM_SI_GAAcd066023.1e-258359738
GH31_GANC_GANAB_alphcd066031.6e-87359720
GH31_glucosidase_II_cd066043.6e-115359720
GH31_CPE1046cd065963.2e-05492710
GH31_xylosidase_XylScd065950.00028497696
Trefoilpfam000882.7e-2181130
Glyco_hydro_31pfam010554.9e-232340824
PDsmart000185.2e-2380133

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_018097Diseasep.ALA880ASPGlycogen storage disease 2 (GSD2)
Swiss-ProtVAR_029036Diseasep.ALA445PROGlycogen storage disease 2 (GSD2)
Swiss-ProtVAR_068600Diseasep.ALA486PROGlycogen storage disease 2 (GSD2)
Swiss-ProtVAR_029027Diseasep.ALA237VALGlycogen storage disease 2 (GSD2)
Swiss-ProtVAR_068616Diseasep.ALA610VALGlycogen storage disease 2 (GSD2)
Swiss-ProtVAR_029035Diseasep.ARG437CYSGlycogen storage disease 2 (GSD2)
Swiss-ProtVAR_018095Diseasep.ARG600CYSGlycogen storage disease 2 (GSD2)
Swiss-ProtVAR_046479Diseasep.ARG702CYSGlycogen storage disease 2 (GSD2)
Swiss-ProtVAR_068575Diseasep.ARG224GLNGlycogen storage disease 2 (GSD2)
Swiss-ProtVAR_004307Diseasep.ARG672GLNGlycogen storage disease 2 (GSD2)
Swiss-ProtVAR_068570Diseasep.ARG190HISGlycogen storage disease 2 (GSD2)
dbSNPrs1042395 Polymorphismp.ARG223HISN/A
Swiss-ProtVAR_068612Diseasep.ARG594HISGlycogen storage disease 2 (GSD2)
Swiss-ProtVAR_008689Diseasep.ARG600HISGlycogen storage disease 2 (GSD2)
Swiss-ProtVAR_046477Diseasep.ARG660HISGlycogen storage disease 2 (GSD2)
Swiss-ProtVAR_068565Polymorphismp.ARG74HISN/A
Swiss-ProtVAR_068566Polymorphismp.ARG89HISN/A
Swiss-ProtVAR_046469Diseasep.ARG375LEUGlycogen storage disease 2 (GSD2)
Swiss-ProtVAR_068626Diseasep.ARG702LEUGlycogen storage disease 2 (GSD2)
Swiss-ProtVAR_068611Polymorphismp.ARG585LYSN/A
Swiss-ProtVAR_046472Diseasep.ARG585METGlycogen storage disease 2 (GSD2)
Swiss-ProtVAR_068574Diseasep.ARG224PROGlycogen storage disease 2 (GSD2)
Swiss-ProtVAR_068613Diseasep.ARG594PROGlycogen storage disease 2 (GSD2)
Swiss-ProtVAR_068633Diseasep.ARG819PROGlycogen storage disease 2 (GSD2)
Swiss-ProtVAR_046478Diseasep.ARG672THRGlycogen storage disease 2 (GSD2)
Swiss-ProtVAR_029026Diseasep.ARG224TRPGlycogen storage disease 2 (GSD2)
Swiss-ProtVAR_004308Diseasep.ARG672TRPGlycogen storage disease 2 (GSD2)
Swiss-ProtVAR_004310Diseasep.ARG725TRPGlycogen storage disease 2 (GSD2)
Swiss-ProtVAR_068583Polymorphismp.ASN290ASPN/A
Swiss-ProtVAR_068587Diseasep.ASN316ILEGlycogen storage disease 2 (GSD2)
Swiss-ProtVAR_068607Diseasep.ASN570LYSGlycogen storage disease 2 (GSD2)
Swiss-ProtVAR_068622Diseasep.ASN635LYSGlycogen storage disease 2 (GSD2)
Swiss-ProtVAR_029033Diseasep.ASP404ASNGlycogen storage disease 2 (GSD2)
Swiss-ProtVAR_029037Diseasep.ASP489ASNGlycogen storage disease 2 (GSD2)
Swiss-ProtVAR_004304Diseasep.ASP645ASNGlycogen storage disease 2 (GSD2)
dbSNPrs1800299 Polymorphismp.ASP91ASNN/A
Swiss-ProtVAR_004302Diseasep.ASP645GLUGlycogen storage disease 2 (GSD2)
Swiss-ProtVAR_004303Diseasep.ASP645HISGlycogen storage disease 2 (GSD2)
Swiss-ProtVAR_068595Diseasep.ASP419VALGlycogen storage disease 2 (GSD2)
Swiss-ProtVAR_068567Diseasep.CYS103ARGGlycogen storage disease 2 (GSD2)
Swiss-ProtVAR_018087Diseasep.CYS374ARGGlycogen storage disease 2 (GSD2)
Swiss-ProtVAR_018078Diseasep.CYS103GLYGlycogen storage disease 2 (GSD2)
Swiss-ProtVAR_068568Diseasep.CYS108GLYGlycogen storage disease 2 (GSD2)
Swiss-ProtVAR_068569Diseasep.CYS127PHEGlycogen storage disease 2 (GSD2)
Swiss-ProtVAR_068606Diseasep.CYS558SERGlycogen storage disease 2 (GSD2)
Swiss-ProtVAR_004305Diseasep.CYS647TRPGlycogen storage disease 2 (GSD2)
Swiss-ProtVAR_046470Diseasep.GLN401ARGGlycogen storage disease 2 (GSD2)
Swiss-ProtVAR_068630Diseasep.GLN743LYSGlycogen storage disease 2 (GSD2)
Swiss-ProtVAR_068601Diseasep.GLU521GLNGlycogen storage disease 2 (GSD2)
Swiss-ProtVAR_029028Diseasep.GLU262LYSGlycogen storage disease 2 (GSD2)
Swiss-ProtVAR_004295Diseasep.GLU521LYSGlycogen storage disease 2 (GSD2)
Swiss-ProtVAR_018094Diseasep.GLU579LYSGlycogen storage disease 2 (GSD2)
dbSNPrs1800309 Polymorphismp.GLU689LYSN/A
Swiss-ProtVAR_004299Polymorphismp.GLY576ALAN/A
Swiss-ProtVAR_018079Diseasep.GLY219ARGGlycogen storage disease 2 (GSD2)
Swiss-ProtVAR_018082Diseasep.GLY293ARGGlycogen storage disease 2 (GSD2)
Swiss-ProtVAR_018084Diseasep.GLY309ARGGlycogen storage disease 2 (GSD2)
Swiss-ProtVAR_068590Diseasep.GLY335ARGGlycogen storage disease 2 (GSD2)
Swiss-ProtVAR_068592Polymorphismp.GLY359ARGN/A
Swiss-ProtVAR_029032Diseasep.GLY377ARGGlycogen storage disease 2 (GSD2)
Swiss-ProtVAR_004291Diseasep.GLY478ARGGlycogen storage disease 2 (GSD2)
Swiss-ProtVAR_018091Diseasep.GLY549ARGGlycogen storage disease 2 (GSD2)
Swiss-ProtVAR_068610Diseasep.GLY576ARGGlycogen storage disease 2 (GSD2)
Swiss-ProtVAR_008690Diseasep.GLY615ARGGlycogen storage disease 2 (GSD2)
Swiss-ProtVAR_004301Diseasep.GLY643ARGGlycogen storage disease 2 (GSD2)
Swiss-ProtVAR_018096Diseasep.GLY607ASPGlycogen storage disease 2 (GSD2)
Swiss-ProtVAR_068617Polymorphismp.GLY611ASPN/A
Swiss-ProtVAR_068624Diseasep.GLY648ASPGlycogen storage disease 2 (GSD2)
Swiss-ProtVAR_068589Diseasep.GLY335GLUGlycogen storage disease 2 (GSD2)
dbSNPrs1800307 Polymorphismp.GLY576SERN/A
Swiss-ProtVAR_004306Diseasep.GLY648SERGlycogen storage disease 2 (GSD2)
Swiss-ProtVAR_046476Diseasep.GLY638TRPGlycogen storage disease 2 (GSD2)
Swiss-ProtVAR_068599Diseasep.GLY483VALGlycogen storage disease 2 (GSD2)
Swiss-ProtVAR_068623Diseasep.GLY638VALGlycogen storage disease 2 (GSD2)
dbSNPrs1042393 Polymorphismp.HIS199ARGN/A
Swiss-ProtVAR_068608Diseasep.HIS572GLNGlycogen storage disease 2 (GSD2)
Swiss-ProtVAR_029038Diseasep.HIS612GLNGlycogen storage disease 2 (GSD2)
Swiss-ProtVAR_046468Diseasep.HIS308LEUGlycogen storage disease 2 (GSD2)
Swiss-ProtVAR_070018Diseasep.HIS568LEUGlycogen storage disease 2 (GSD2)
Swiss-ProtVAR_018083Diseasep.HIS308PROGlycogen storage disease 2 (GSD2)
Swiss-ProtVAR_068618Diseasep.HIS612TYRGlycogen storage disease 2 (GSD2)
Swiss-ProtVAR_068605Diseasep.ILE557PHEGlycogen storage disease 2 (GSD2)
Swiss-ProtVAR_004288Diseasep.LEU299ARGGlycogen storage disease 2 (GSD2)
Swiss-ProtVAR_018085Diseasep.LEU312ARGGlycogen storage disease 2 (GSD2)
Swiss-ProtVAR_029039Diseasep.LEU901GLNGlycogen storage disease 2 (GSD2)
Swiss-ProtVAR_068584Diseasep.LEU291PHEGlycogen storage disease 2 (GSD2)
Swiss-ProtVAR_029025Diseasep.LEU208PROGlycogen storage disease 2 (GSD2)
Swiss-ProtVAR_068585Diseasep.LEU291PROGlycogen storage disease 2 (GSD2)
Swiss-ProtVAR_018086Diseasep.LEU355PROGlycogen storage disease 2 (GSD2)
Swiss-ProtVAR_018088Diseasep.LEU405PROGlycogen storage disease 2 (GSD2)
Swiss-ProtVAR_018092Diseasep.LEU552PROGlycogen storage disease 2 (GSD2)
Swiss-ProtVAR_068635Diseasep.LEU935PROGlycogen storage disease 2 (GSD2)
Swiss-ProtVAR_068588Diseasep.MET318LYSGlycogen storage disease 2 (GSD2)
Swiss-ProtVAR_004289Diseasep.MET318THRGlycogen storage disease 2 (GSD2)
Swiss-ProtVAR_004293Diseasep.MET519THRGlycogen storage disease 2 (GSD2)
Swiss-ProtVAR_068593Polymorphismp.MET391VALN/A
Swiss-ProtVAR_029034Diseasep.MET408VALGlycogen storage disease 2 (GSD2)
Swiss-ProtVAR_004294Diseasep.MET519VALGlycogen storage disease 2 (GSD2)
Swiss-ProtVAR_068604Diseasep.PHE525TYRGlycogen storage disease 2 (GSD2)
Swiss-ProtVAR_046471Diseasep.PRO522ALAGlycogen storage disease 2 (GSD2)
Swiss-ProtVAR_018080Diseasep.PRO285ARGGlycogen storage disease 2 (GSD2)
Swiss-ProtVAR_068591Diseasep.PRO347ARGGlycogen storage disease 2 (GSD2)
Swiss-ProtVAR_068598Diseasep.PRO482ARGGlycogen storage disease 2 (GSD2)
Swiss-ProtVAR_004312Diseasep.PRO768ARGGlycogen storage disease 2 (GSD2)
Swiss-ProtVAR_070020Diseasep.PRO913ARGGlycogen storage disease 2 (GSD2)
Swiss-ProtVAR_068596Diseasep.PRO457HISGlycogen storage disease 2 (GSD2)
Swiss-ProtVAR_068571Diseasep.PRO217LEUGlycogen storage disease 2 (GSD2)
Swiss-ProtVAR_029029Diseasep.PRO324LEUGlycogen storage disease 2 (GSD2)
Swiss-ProtVAR_029031Diseasep.PRO361LEUGlycogen storage disease 2 (GSD2)
Swiss-ProtVAR_068594Diseasep.PRO397LEUGlycogen storage disease 2 (GSD2)
Swiss-ProtVAR_029040Diseasep.PRO457LEUGlycogen storage disease 2 (GSD2)
Swiss-ProtVAR_004297Diseasep.PRO545LEUGlycogen storage disease 2 (GSD2)
Swiss-ProtVAR_068621Polymorphismp.PRO629LEUN/A
Swiss-ProtVAR_068580Diseasep.PRO266SERGlycogen storage disease 2 (GSD2)
Swiss-ProtVAR_068582Diseasep.PRO285SERGlycogen storage disease 2 (GSD2)
Swiss-ProtVAR_068602Diseasep.PRO522SERGlycogen storage disease 2 (GSD2)
Swiss-ProtVAR_046475Diseasep.SER619ARGGlycogen storage disease 2 (GSD2)
Swiss-ProtVAR_068578Diseasep.SER251LEUGlycogen storage disease 2 (GSD2)
Swiss-ProtVAR_068579Diseasep.SER254LEUGlycogen storage disease 2 (GSD2)
Swiss-ProtVAR_068614Diseasep.SER601LEUGlycogen storage disease 2 (GSD2)
Swiss-ProtVAR_068564Diseasep.SER46PROGlycogen storage disease 2 (GSD2)
Swiss-ProtVAR_004298Diseasep.SER566PROGlycogen storage disease 2 (GSD2)
Swiss-ProtVAR_068620Diseasep.SER627PROGlycogen storage disease 2 (GSD2)
Swiss-ProtVAR_068603Diseasep.SER523TYRGlycogen storage disease 2 (GSD2)
Swiss-ProtVAR_046473Diseasep.SER599TYRGlycogen storage disease 2 (GSD2)
Swiss-ProtVAR_004296Diseasep.SER529VALGlycogen storage disease 2 (GSD2)
Swiss-ProtVAR_068581Polymorphismp.THR271ALAN/A
Swiss-ProtVAR_068615Diseasep.THR602ALAGlycogen storage disease 2 (GSD2)
Swiss-ProtVAR_068577Diseasep.THR234ARGGlycogen storage disease 2 (GSD2)
Swiss-ProtVAR_068627Polymorphismp.THR711ARGN/A
Swiss-ProtVAR_068629Diseasep.THR737ASNGlycogen storage disease 2 (GSD2)
dbSNPrs1800315 Polymorphismp.THR927ILEN/A
Swiss-ProtVAR_068576Diseasep.THR234LYSGlycogen storage disease 2 (GSD2)
Swiss-ProtVAR_068619Diseasep.THR614LYSGlycogen storage disease 2 (GSD2)
Swiss-ProtVAR_004290Diseasep.TRP402ARGGlycogen storage disease 2 (GSD2)
Swiss-ProtVAR_004292Diseasep.TRP481ARGGlycogen storage disease 2 (GSD2)
Swiss-ProtVAR_004311Polymorphismp.TRP746CYSN/A
Swiss-ProtVAR_029030Diseasep.TRP330GLYGlycogen storage disease 2 (GSD2)
Swiss-ProtVAR_068631Diseasep.TRP746GLYGlycogen storage disease 2 (GSD2)
Swiss-ProtVAR_068632Diseasep.TRP746SERGlycogen storage disease 2 (GSD2)
Swiss-ProtVAR_046467Diseasep.TYR191CYSGlycogen storage disease 2 (GSD2)
Swiss-ProtVAR_018081Diseasep.TYR292CYSGlycogen storage disease 2 (GSD2)
Swiss-ProtVAR_068597Polymorphismp.TYR458CYSN/A
Swiss-ProtVAR_068609Diseasep.TYR575CYSGlycogen storage disease 2 (GSD2)
Swiss-ProtVAR_070019Diseasep.TYR766CYSGlycogen storage disease 2 (GSD2)
Swiss-ProtVAR_018089Diseasep.TYR455PHEGlycogen storage disease 2 (GSD2)
Swiss-ProtVAR_018093Diseasep.TYR575SERGlycogen storage disease 2 (GSD2)
Swiss-ProtVAR_004318Diseasep.VAL949ASPGlycogen storage disease 2 (GSD2)
Swiss-ProtVAR_068586Polymorphismp.VAL310GLYN/A
Swiss-ProtVAR_068628Polymorphismp.VAL718ILEN/A
dbSNPrs1126690 Polymorphismp.VAL780ILEN/A
dbSNPrs1800314 Polymorphismp.VAL816ILEN/A
Swiss-ProtVAR_068572Polymorphismp.VAL220LEUN/A
Swiss-ProtVAR_068573Polymorphismp.VAL222METN/A
Swiss-ProtVAR_068634Diseasep.VAL916PHEGlycogen storage disease 2 (GSD2)
OMIM606800.0016 Diseasep.ALA237VALGLYCOGEN STORAGE DISEASE II, ADULT FORM
OMIM606800.0015 Diseasep.ARG854TERGLYCOGEN STORAGE DISEASE II
OMIM606800.0005 Diseasep.ARG725TRPGLYCOGEN STORAGE DISEASE II, ADULT FORM
OMIM606800.0001 Diseasep.ASP91ASNACID ALPHA-GLUCOSIDASE, ALLELE 2
OMIM606800.0010 Diseasep.ASP645GLUGLYCOGEN STORAGE DISEASE II, INFANTILE FORM
OMIM606800.0003 Diseasep.GLU521LYSGLYCOGEN STORAGE DISEASE II, INFANTILE FORM
OMIM606800.0011 Diseasep.GLU689LYSACID ALPHA-GLUCOSIDASE, ALLELE 4
OMIM606800.0017 Diseasep.GLY293ARGGLYCOGEN STORAGE DISEASE II, ADULT FORM
OMIM606800.0004 Diseasep.GLY643ARGGLYCOGEN STORAGE DISEASE II, ADULT FORM
OMIM606800.0008 Diseasep.LEU299ARGGLYCOGEN STORAGE DISEASE II, INFANTILE FORM
OMIM606800.0002 Diseasep.MET318THRGLYCOGEN STORAGE DISEASE II, INFANTILE FORM
OMIM606800.0013 Diseasep.PRO545LEUGLYCOGEN STORAGE DISEASE II, ADULT FORM
OMIM606800.0009 Diseasep.SER529VALGLYCOGEN STORAGE DISEASE II, ADULT FORM



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