Results for the protein: Q09470

Results for the Protein: Q09470

223590092

3736

KCNA1

NCBI, UniProt

KCNA1_HUMAN RecName: Full=Potassium voltage-gated channel subfamily A member 1; AltName: Full=Voltage-gated K(+) channel HuKI; AltName: Full=Voltage-gated potassium channel HBK1; AltName: Full=Voltage-gated potassium channel subunit Kv1.1

Known Diseases associated with this Protein:
  EPISODIC ATAXIA 1 (EA1)
  EPISODIC ATAXIA, TYPE 1
  MYOKYMIA 1
  MYOKYMIA 1 WITH HYPOMAGNESEMIA
  MYOKYMIA ISOLATED 1 (MK1)

31

2

15

0

18

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Default View: BTB - smart00225 K_tetra - pfam02214 Ion_trans - pfam00520 Ion_trans_2 - pfam07885	Swiss-Prot Protein: Q09470 Identical to: NP_000208 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
Ion_trans	pfam00520	3e-49	223	407
BTB	smart00225	1.5e-12	35	130
Ion_trans_2	pfam07885	1.2e-14	332	408

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_037102	Disease	p.ALA242PRO	Myokymia isolated 1 (MK1)
Swiss-Prot	VAR_020051	Polymorphism	p.ARG204HIS	N/A
Swiss-Prot	VAR_001511	Disease	p.ARG239SER	Episodic ataxia 1 (EA1)
Swiss-Prot	VAR_020832	Disease	p.GLU325ASP	Episodic ataxia 1 (EA1)
Swiss-Prot	VAR_001509	Disease	p.ILE177ARG	Episodic ataxia 1 (EA1)
Swiss-Prot	VAR_016805	Polymorphism	p.ILE400VAL	N/A
Swiss-Prot	VAR_020833	Disease	p.LEU329ILE	Episodic ataxia 1 (EA1)
Swiss-Prot	VAR_020830	Disease	p.PHE184CYS	Episodic ataxia 1 (EA1)
Swiss-Prot	VAR_001512	Disease	p.PHE249ILE	Episodic ataxia 1 (EA1)
Swiss-Prot	VAR_037103	Disease	p.PRO244HIS	Myokymia isolated 1 (MK1)
Swiss-Prot	VAR_020834	Disease	p.SER342ILE	Episodic ataxia 1 (EA1)
Swiss-Prot	VAR_001510	Disease	p.THR226ALA	Episodic ataxia 1 (EA1)
Swiss-Prot	VAR_037101	Disease	p.THR226ARG	Episodic ataxia 1 (EA1)
Swiss-Prot	VAR_037100	Disease	p.THR226LYS	Myokymia isolated 1 (MK1)
Swiss-Prot	VAR_020831	Disease	p.THR226MET	Episodic ataxia 1 (EA1)
Swiss-Prot	VAR_001514	Disease	p.VAL408ALA	Episodic ataxia 1 (EA1)
Swiss-Prot	VAR_001513	Disease	p.VAL404ILE	Episodic ataxia 1 (EA1)
Swiss-Prot	VAR_001508	Disease	p.VAL174PHE	Episodic ataxia 1 (EA1)
OMIM	176260.0010	Disease	p.ALA242PRO	MYOKYMIA 1
OMIM	176260.0002	Disease	p.ARG239SER	EPISODIC ATAXIA, TYPE 1
OMIM	176260.0012	Disease	p.ARG417TER	EPISODIC ATAXIA, TYPE 1
OMIM	176260.0015	Disease	p.ASN255ASP	MYOKYMIA 1 WITH HYPOMAGNESEMIA
OMIM	176260.0006	Disease	p.GLU325ASP	EPISODIC ATAXIA, TYPE 1
OMIM	176260.0009	Disease	p.ILE177ASN	EPISODIC ATAXIA, TYPE 1
OMIM	176260.0005	Disease	p.PHE184CYS	EPISODIC ATAXIA, TYPE 1
OMIM	176260.0004	Disease	p.PHE249ILE	EPISODIC ATAXIA, TYPE 1
OMIM	176260.0011	Disease	p.PRO244HIS	MYOKYMIA 1
OMIM	176260.0007	Disease	p.THR226ALA	EPISODIC ATAXIA, TYPE 1
OMIM	176260.0013	Disease	p.THR226ARG	EPISODIC ATAXIA, TYPE 1
OMIM	176260.0014	Disease	p.THR226LYS	MYOKYMIA 1
OMIM	176260.0001	Disease	p.VAL408ALA	EPISODIC ATAXIA, TYPE 1
OMIM	176260.0008	Disease	p.VAL404ILE	EPISODIC ATAXIA, TYPE 1
OMIM	176260.0003	Disease	p.VAL174PHE	EPISODIC ATAXIA, TYPE 1

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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