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Results for the Protein: Q8N335
74750945

GPD1L_HUMAN RecName: Full=Glycerol-3-phosphate dehydrogenase 1-like protein; Short=GPD1-L

Known Diseases associated with this Protein:
  BRUGADA SYNDROME 2
  BRUGADA SYNDROME 2 (BRGDA2)
  SUDDEN INFANT DEATH SYNDROME (SIDS)
8
1
4
0
5
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Default View:

NAD_Gly3P_dh_C - pfam07479


Swiss-Prot Protein: Q8N335
Identical to: NP_055956
   Default View:



Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
NAD_Gly3P_dh_Cpfam074794.7e-83194344

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_044047Diseasep.ALA280VALBrugada syndrome 2 (BRGDA2)
Swiss-ProtVAR_044046Diseasep.ARG273CYSSudden infant death syndrome (SIDS)
Swiss-ProtVAR_044044Diseasep.GLU83LYSSudden infant death syndrome (SIDS)
Swiss-ProtVAR_044045Diseasep.ILE124VALSudden infant death syndrome (SIDS)
Swiss-ProtVAR_032114Polymorphismp.LEU178PHEN/A
OMIM611778.0001 Diseasep.ALA280VALBRUGADA SYNDROME 2
OMIM611778.0004 Diseasep.ARG273CYSBRUGADA SYNDROME 2
OMIM611778.0002 Diseasep.GLU83LYSBRUGADA SYNDROME 2
OMIM611778.0003 Diseasep.ILE124VALBRUGADA SYNDROME 2



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