Results for the protein: NP

Results for the Protein: NP_077747

100913189

51422

PRKAG2

NCBI

5'-AMP-activated protein kinase subunit gamma-2 isoform b [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

9

1

9

1

0

Tips:

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RefSeq Protein: NP_077747

Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
CBS_pair	cd02205	1.5e-11	37	166
CBS_pair_5	cd04618	9.7e-68	37	166
CBS_pair_ACT_assoc	cd04584	1.4e-07	118	240
CBS_pair_ACT_assoc2	cd04585	1.2e-07	118	240
CBS_pair_14	cd04627	1.2e-07	118	240
CBS_pair_20	cd04633	6.4e-07	118	240
CBS_pair_24	cd04637	0.00044	118	240
CBS_pair_23	cd04636	5.7e-05	118	240
CBS_pair_3	cd04802	0.00069	118	240
CBS_pair_15	cd04803	1.6e-06	118	240
COG0517	COG0517	4.2e-14	176	310
CBS_pair_BON_assoc	cd04586	8.6e-07	192	312
CBS_pair	cd02205	4.2e-21	193	312
CBS_pair_CAP-ED_DUF2	cd04588	4.1e-05	193	312
CBS_pair_CorC_HlyC_a	cd04590	0.00063	193	312
CBS_pair_GGDEF_assoc	cd04599	0.00043	193	312
CBS_pair_PAS_GGDEF_D	cd04611	0.00011	193	312
CBS_pair_SpoIVFB_Eri	cd04612	2.5e-06	193	312
CBS_pair_8	cd04621	0.00022	193	312
CBS_pair_9	cd04622	9.1e-06	193	312
CBS_pair_10	cd04623	1.2e-05	193	312
CBS_pair_16	cd04629	1e-06	193	312
CBS_pair_18	cd04631	1.3e-06	193	312
CBS_pair_21	cd04634	0.00052	193	312
CBS_pair_22	cd04635	0.00019	193	312
CBS_pair_28	cd04641	2.8e-72	193	312
CBS_pair_29	cd04642	1.8e-07	193	312
CBS_pair_CAP-ED_DUF2	cd04800	0.0005	193	312
CBS_pair_HPP_assoc	cd04600	4.1e-06	194	312
CBS_pair_IMPDH	cd04601	0.00045	197	312
CBS	pfam00571	0.00011	108	169
CBS	pfam00571	7.2e-10	184	243
CBS	pfam00571	2.3e-07	253	315
CBS	smart00116	4e-07	38	87
CBS	smart00116	3.9e-10	119	168
CBS	smart00116	1.2e-12	194	242
CBS	smart00116	2e-07	266	314

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs201542789	Polymorphism	p.VAL292GLY	N/A
OMIM	602743.0007	Disease	p.ARG290GLN	GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL
OMIM	602743.0001	Disease	p.ARG61GLN	WOLFF-PARKINSON-WHITE SYNDROME\|\|CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6, INCLUDED
OMIM	602743.0006	Disease	p.ARG290GLY	WOLFF-PARKINSON-WHITE SYNDROME, CHILDHOOD-ONSET
OMIM	602743.0005	Disease	p.ASN247ILE	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6
OMIM	602743.0010	Disease	p.GLU265GLN	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6
OMIM	602743.0009	Disease	p.HIS289ARG	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6
OMIM	602743.0011	Disease	p.SER307PRO	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6
OMIM	602743.0004	Disease	p.THR159ASN	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6
OMIM	602743.0008	Disease	p.TYR246HIS	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6

Please Cite: Peterson, T.A., Adadey, A., Santana-Cruz ,I., Sun, Y., Winder A, Kann, M.G., (2010) DMDM: Domain Mapping of Disease Mutations. Bioinformatics 26 (19), 2458-2459.

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