Results for the protein: NP

Results for the Protein: NP_742054

26051273

3757

KCNH2

NCBI

potassium voltage-gated channel subfamily H member 2 isoform c [Homo sapiens]

Known Diseases associated with this Protein:
  LONG QT SYNDROME 1/2, DIGENIC
  LONG QT SYNDROME 2
  LONG QT SYNDROME 2, ACQUIRED, SUSCEPTIBILITY TO
  LONG QT SYNDROME 2/5, DIGENIC, INCLUDED
  LONG QT SYNDROME 2/9, DIGENIC, INCLUDED
  LONG QT SYNDROME, BRADYCARDIA-INDUCED
  SHORT QT SYNDROME 1

19

2

19

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: Ion_trans - pfam00520 Ion_trans_2 - pfam07885 CAP_ED - cd00038 cNMP - smart00100 cNMP_binding - pfam00027	RefSeq Protein: NP_742054 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
Ion_trans	pfam00520	7e-28	114	319
cNMP_binding	pfam00027	3.7e-15	420	507
Ion_trans_2	pfam07885	2.8e-07	242	320
cNMP	smart00100	8.9e-23	402	519

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs1805123	Polymorphism	p.LYS557THR	N/A
dbSNP	rs41307271	Polymorphism	p.PRO686LEU	N/A
OMIM	152427.0025	Disease	p.ALA218PRO	LONG QT SYNDROME 2
OMIM	152427.0011	Disease	p.ALA150THR	LONG QT SYNDROME, BRADYCARDIA-INDUCED
OMIM	152427.0001	Disease	p.ALA221VAL	LONG QT SYNDROME 2
OMIM	152427.0026	Disease	p.ALA274VAL	LONG QT SYNDROME 2
OMIM	152427.0009	Disease	p.ARG242CYS	LONG QT SYNDROME 2
OMIM	152427.0022	Disease	p.ARG608CYS	LONG QT SYNDROME 1/2, DIGENIC
OMIM	152427.0016	Disease	p.ARG412GLN	LONG QT SYNDROME 2
OMIM	152427.0014	Disease	p.ARG444TRP	LONG QT SYNDROME 2, ACQUIRED, SUSCEPTIBILITY TO
OMIM	152427.0024	Disease	p.ARG573VAL	LONG QT SYNDROME 2\|\|LONG QT SYNDROME 2/9, DIGENIC, INCLUDED
OMIM	152427.0002	Disease	p.ASN130ASP	LONG QT SYNDROME 2
OMIM	152427.0021	Disease	p.ASN521ILE	LONG QT SYNDROME 2\|\|LONG QT SYNDROME 2/5, DIGENIC, INCLUDED
OMIM	152427.0017 152427.0018	Disease	p.ASN248LYS	SHORT QT SYNDROME 1
OMIM	152427.0010	Disease	p.GLY232ARG	LONG QT SYNDROME 2
OMIM	152427.0008	Disease	p.GLY288SER	LONG QT SYNDROME 2
OMIM	152427.0004	Disease	p.ILE253ARG	LONG QT SYNDROME 2
OMIM	152427.0013	Disease	p.SER478LEU	LONG QT SYNDROME 2
OMIM	152427.0012	Disease	p.TRP661TER	LONG QT SYNDROME 2
OMIM	152427.0027	Disease	p.TYR271HIS	LONG QT SYNDROME 2
OMIM	152427.0005	Disease	p.VAL482MET	LONG QT SYNDROME 2

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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