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Results for the Protein: Q9UGJ0
14285344

AAKG2_HUMAN RecName: Full=5'-AMP-activated protein kinase subunit gamma-2; Short=AMPK gamma2; Short=AMPK subunit gamma-2; AltName: Full=H91620p

Known Diseases associated with this Protein:
  CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC 6 (CMH6)
  CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6
  CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6, INCLUDED
  GLYCOGEN STORAGE DISEASE OF HEART LETHAL CONGENITAL (GSDH)
  GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL
  WOLFF-PARKINSON-WHITE SYNDROME
  WOLFF-PARKINSON-WHITE SYNDROME (WPWS)
  WOLFF-PARKINSON-WHITE SYNDROME, CHILDHOOD-ONSET
16
4
10
3
7
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CBS - smart00116


Swiss-Prot Protein: Q9UGJ0
Identical to: NP_057287
   Default View:



Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
CBSsmart001164e-07279328
CBSsmart001163.9e-10360409
CBSsmart001161.2e-12435483
CBSsmart001162e-07507555

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_013264Diseasep.ARG302GLNWolff-Parkinson-White syndrome (WPWS)
Swiss-ProtVAR_013269Diseasep.ARG531GLNGlycogen storage disease of heart lethal congenital (GSDH)
Swiss-ProtVAR_032909Diseasep.ARG531GLYWolff-Parkinson-White syndrome (WPWS)
dbSNPrs61746358 Polymorphismp.ARG84TRPN/A
Swiss-ProtVAR_013268Diseasep.ASN488ILECardiomyopathy, familial hypertrophic 6 (CMH6)
Swiss-ProtVAR_013266Diseasep.HIS383ARGCardiomyopathy, familial hypertrophic 6 (CMH6)
Swiss-ProtVAR_048250Polymorphismp.MET6LEUN/A
dbSNPrs116605521 Polymorphismp.SER20ILEN/A
Swiss-ProtVAR_013267Diseasep.THR400ASNCardiomyopathy, familial hypertrophic 6 (CMH6)
dbSNPrs201542789 Polymorphismp.VAL533GLYN/A
OMIM602743.0001 Diseasep.ARG302GLNWOLFF-PARKINSON-WHITE SYNDROME||CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6, INCLUDED
OMIM602743.0007 Diseasep.ARG531GLNGLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL
OMIM602743.0006 Diseasep.ARG531GLYWOLFF-PARKINSON-WHITE SYNDROME, CHILDHOOD-ONSET
OMIM602743.0005 Diseasep.ASN488ILECARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6
OMIM602743.0010 Diseasep.GLU506GLNCARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6
OMIM602743.0002 Diseasep.HIS142ARGCARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6
OMIM602743.0009 Diseasep.HIS530ARGCARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6
OMIM602743.0011 Diseasep.SER548PROCARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6
OMIM602743.0004 Diseasep.THR400ASNCARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6
OMIM602743.0008 Diseasep.TYR487HISCARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6



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