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Results for the Protein: P09848
311033425
LCT

LPH_HUMAN RecName: Full=Lactase-phlorizin hydrolase; AltName: Full=Lactase-glycosylceramidase; Includes: RecName: Full=Lactase; Includes: RecName: Full=Phlorizin hydrolase; Flags: Precursor

Known Diseases associated with this Protein:
  CONGENITAL LACTASE DEFICIENCY (COLACD)
  LACTASE DEFICIENCY, CONGENITAL
4
6
2
4
4
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Default View:

Glyco_hydro_1 - pfam00232
BglB - COG2723


Swiss-Prot Protein: P09848
Identical to: NP_002290
   Default View:




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
Glyco_hydro_1pfam002329.2e-294378847
BglBCOG27232.6e-97379853
Glyco_hydro_1pfam002321.5e-3008991364
BglBCOG27234.4e-1229001367
Glyco_hydro_1pfam002324.5e-28613731840
BglBCOG27231.9e-12713741846

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs114525655 Polymorphismp.ALA152THRN/A
dbSNPrs2322659 Polymorphismp.ASN1639SERN/A
Swiss-ProtVAR_026706Diseasep.GLN268HISCongenital lactase deficiency (COLACD)
Swiss-ProtVAR_026708Diseasep.GLY1363SERCongenital lactase deficiency (COLACD)
dbSNPrs4954449 Polymorphismp.ILE362VALN/A
Swiss-ProtVAR_055882Polymorphismp.SER190LEUN/A
dbSNPrs3754689 Polymorphismp.VAL219ILEN/A
Swiss-ProtVAR_055883Polymorphismp.VAL1593METN/A
OMIM603202.0003 Diseasep.GLN268HISLACTASE DEFICIENCY, CONGENITAL
OMIM603202.0001 Diseasep.TYR1390TERLACTASE DEFICIENCY, CONGENITAL



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