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Results for the Protein: NP_001035723
100913192

5'-AMP-activated protein kinase subunit gamma-2 isoform c [Homo sapiens]

Known Diseases associated with this Protein:
  CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6
  CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6, INCLUDED
  GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL
  WOLFF-PARKINSON-WHITE SYNDROME
  WOLFF-PARKINSON-WHITE SYNDROME, CHILDHOOD-ONSET
10
2
10
2
0
Tips:
 The Domains on the Default View are decided by the Domain's E-Value.

 Clicking a check box will display or hide the correlated domain.

 To view the Gene page, either click on the link to the left or the blue bar above the Protein's graphic.



Default View:

COG0517 - COG0517
CBS_pair_5 - cd04618
CBS_pair - cd02205
CBS - smart00116
CBS - pfam00571
CBS_pair_3 - cd04802
CBS_pair_24 - cd04637
CBS_pair_15 - cd04803
CBS_pair_20 - cd04633
CBS_pair_ACT_assoc - cd04584
CBS_pair_23 - cd04636
CBS_pair_ACT_assoc2 - cd04585
CBS_pair_14 - cd04627
CBS_pair_BON_assoc - cd04586
CBS_pair_22 - cd04635
CBS_pair_21 - cd04634
CBS_pair_28 - cd04641
CBS_pair_18 - cd04631
CBS_pair_CAP-ED_DUF2 - cd04800
CBS_pair_29 - cd04642
CBS_pair_SpoIVFB_Eri - cd04612
CBS_pair_16 - cd04629
CBS_pair_GGDEF_assoc - cd04599
CBS_pair_CorC_HlyC_a - cd04590
CBS_pair_PAS_GGDEF_D - cd04611
CBS_pair_10 - cd04623
CBS_pair_9 - cd04622
CBS_pair_8 - cd04621
CBS_pair_CAP-ED_DUF2 - cd04588
CBS_pair_HPP_assoc - cd04600
CBS_pair_IMPDH - cd04601




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
CBS_paircd022051.5e-11234363
CBS_pair_5cd046189.7e-68234363
CBS_pair_ACT_assoccd045841.4e-07315437
CBS_pair_ACT_assoc2cd045851.2e-07315437
CBS_pair_14cd046271.2e-07315437
CBS_pair_20cd046336.4e-07315437
CBS_pair_23cd046365.7e-05315437
CBS_pair_24cd046370.00044315437
CBS_pair_3cd048020.00069315437
CBS_pair_15cd048031.6e-06315437
COG0517COG05174.2e-14373507
CBS_pair_BON_assoccd045868.6e-07389509
CBS_paircd022054.2e-21390509
CBS_pair_CAP-ED_DUF2cd045884.1e-05390509
CBS_pair_CorC_HlyC_acd045900.00063390509
CBS_pair_GGDEF_assoccd045990.00043390509
CBS_pair_PAS_GGDEF_Dcd046110.00011390509
CBS_pair_SpoIVFB_Ericd046122.5e-06390509
CBS_pair_8cd046210.00022390509
CBS_pair_9cd046229.1e-06390509
CBS_pair_10cd046231.2e-05390509
CBS_pair_16cd046291e-06390509
CBS_pair_18cd046311.3e-06390509
CBS_pair_21cd046340.00052390509
CBS_pair_22cd046350.00019390509
CBS_pair_28cd046412.8e-72390509
CBS_pair_29cd046421.8e-07390509
CBS_pair_CAP-ED_DUF2cd048000.0005390509
CBS_pair_HPP_assoccd046004.1e-06391509
CBS_pair_IMPDHcd046010.00045394509
CBSpfam005710.00011305366
CBSpfam005717.2e-10381440
CBSpfam005712.3e-07450512
CBSsmart001164e-07235284
CBSsmart001163.9e-10316365
CBSsmart001161.2e-12391439
CBSsmart001162e-07463511

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs61746358 Polymorphismp.ARG40TRPN/A
dbSNPrs201542789 Polymorphismp.VAL489GLYN/A
OMIM602743.0001 Diseasep.ARG258GLNWOLFF-PARKINSON-WHITE SYNDROME||CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6, INCLUDED
OMIM602743.0007 Diseasep.ARG487GLNGLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL
OMIM602743.0006 Diseasep.ARG487GLYWOLFF-PARKINSON-WHITE SYNDROME, CHILDHOOD-ONSET
OMIM602743.0005 Diseasep.ASN444ILECARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6
OMIM602743.0010 Diseasep.GLU462GLNCARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6
OMIM602743.0009 Diseasep.HIS486ARGCARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6
OMIM602743.0002 Diseasep.HIS98ARGCARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6
OMIM602743.0011 Diseasep.SER504PROCARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6
OMIM602743.0004 Diseasep.THR356ASNCARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6
OMIM602743.0008 Diseasep.TYR443HISCARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6



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