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Results for the Protein: Q99698
76803797

LYST_HUMAN RecName: Full=Lysosomal-trafficking regulator; AltName: Full=Beige homolog

Known Diseases associated with this Protein:
  CHEDIAK-HIGASHI SYNDROME (CHS)
  CHEDIAK-HIGASHI SYNDROME, ADULT TYPE
  CHEDIAK-HIGASHI SYNDROME, CHILDHOOD TYPE
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Default View:

PH_BEACH - cd01201
Beach - pfam02138
Beach - cd06071
COG2319 - COG2319
WD40 - cd00200
WD40 - smart00320
WD40 - pfam00400


Swiss-Prot Protein: Q99698
Identical to: NP_000072
   Default View:






Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
PH_BEACHcd012010.00130123122
Beachcd060715.7e-15031323422
WD40cd002007.9e-0734683779
Beachpfam021382.4e-16431323422
COG2319COG23190.0005733503799
WD40pfam004008.8e-0736063644
WD40smart003204.5e-0536053644

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_013556Diseasep.ARG1563HISChediak-Higashi syndrome (CHS)
dbSNPrs74641549 Polymorphismp.ASP1330ALAN/A
dbSNPrs6665568 Polymorphismp.GLN1949HISN/A
Swiss-ProtVAR_053404Polymorphismp.GLU702GLYN/A
dbSNPrs35333195 Polymorphismp.GLY2804ASPN/A
Swiss-ProtVAR_022029Polymorphismp.HIS123ARGN/A
dbSNPrs7524261 Polymorphismp.LEU192VALN/A
dbSNPrs34642241 Polymorphismp.PHE2598TYRN/A
dbSNPrs10465613 Polymorphismp.SER1017ASNN/A
Swiss-ProtVAR_060040Polymorphismp.THR2116METN/A
Swiss-ProtVAR_013557Diseasep.VAL1999ASPChediak-Higashi syndrome (CHS)
Swiss-ProtVAR_053409Polymorphismp.VAL2936ILEN/A
OMIM606897.0009 Diseasep.ARG1563HISCHEDIAK-HIGASHI SYNDROME, ADULT TYPE
OMIM606897.0002 Diseasep.ARG1103TERCHEDIAK-HIGASHI SYNDROME, ADULT TYPE
OMIM606897.0006 Diseasep.ARG50TERCHEDIAK-HIGASHI SYNDROME, CHILDHOOD TYPE
OMIM606897.0007 Diseasep.GLN1029TERCHEDIAK-HIGASHI SYNDROME, CHILDHOOD TYPE
OMIM606897.0010 Diseasep.VAL1999ASPCHEDIAK-HIGASHI SYNDROME, ADULT TYPE



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