Results for the protein: P50993

Results for the Protein: P50993

1703467

477

ATP1A2

NCBI, UniProt

AT1A2_HUMAN RecName: Full=Sodium/potassium-transporting ATPase subunit alpha-2; Short=Na(+)/K(+) ATPase alpha-2 subunit; AltName: Full=Sodium pump subunit alpha-2; Flags: Precursor

Known Diseases associated with this Protein:
  ALTERNATING HEMIPLEGIA OF CHILDHOOD 1
  ALTERNATING HEMIPLEGIA OF CHILDHOOD 1 (AHC1)
  MIGRAINE, FAMILIAL BASILAR
  MIGRAINE, FAMILIAL HEMIPLEGIC, 2
  MIGRAINE, FAMILIAL HEMIPLEGIC, 2 (FHM2)

22

0

14

0

8

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: ZntA - COG2217 MgtA - COG0474 Cation_ATPase_N - pfam00690 Cation_ATPase_N - smart00831 KdpB - COG2216 E1-E2_ATPase - pfam00122 Cation_ATPase_C - pfam00689	Swiss-Prot Protein: P50993 Identical to: NP_000693 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
ZntA	COG2217	1.7e-10	12	834
Cation_ATPase_N	pfam00690	1.3e-19	41	109
KdpB	COG2216	1.3e-09	58	817
E1-E2_ATPase	pfam00122	1.2e-79	133	364
Cation_ATPase_C	pfam00689	1.1e-48	796	1005
Cation_ATPase_N	smart00831	4.5e-21	51	114

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_019935	Disease	p.ARG689GLN	Migraine, familial hemiplegic, 2 (FHM2)
Swiss-Prot	VAR_069992	Disease	p.ARG1007TRP	Migraine, familial hemiplegic, 2 (FHM2)
Swiss-Prot	VAR_065685	Disease	p.GLY715ARG	Migraine, familial hemiplegic, 2 (FHM2)
Swiss-Prot	VAR_069991	Disease	p.GLY874SER	Migraine, familial hemiplegic, 2 (FHM2)
Swiss-Prot	VAR_019937	Disease	p.LEU764PRO	Migraine, familial hemiplegic, 2 (FHM2)
Swiss-Prot	VAR_019936	Disease	p.MET731THR	Migraine, familial hemiplegic, 2 (FHM2)
Swiss-Prot	VAR_019934	Disease	p.THR378ASN	Alternating hemiplegia of childhood 1 (AHC1)
Swiss-Prot	VAR_019938	Disease	p.TRP887ARG	Migraine, familial hemiplegic, 2 (FHM2)
OMIM	182340.0004	Disease	p.ARG689GLN	MIGRAINE, FAMILIAL HEMIPLEGIC, 2
OMIM	182340.0010	Disease	p.ARG548HIS	MIGRAINE, FAMILIAL BASILAR
OMIM	182340.0013	Disease	p.ARG65TRP	MIGRAINE, FAMILIAL HEMIPLEGIC, 2
OMIM	182340.0008	Disease	p.ASP718ASN	MIGRAINE, FAMILIAL HEMIPLEGIC, 2
OMIM	182340.0006	Disease	p.GLY301ARG	MIGRAINE, FAMILIAL HEMIPLEGIC, 2
OMIM	182340.0011	Disease	p.ILE286THR	MIGRAINE, FAMILIAL HEMIPLEGIC, 2
OMIM	182340.0001	Disease	p.LEU764PRO	MIGRAINE, FAMILIAL HEMIPLEGIC, 2
OMIM	182340.0003	Disease	p.MET731THR	MIGRAINE, FAMILIAL HEMIPLEGIC, 2
OMIM	182340.0009	Disease	p.PRO979LEU	MIGRAINE, FAMILIAL HEMIPLEGIC, 2
OMIM	182340.0007	Disease	p.THR345ALA	MIGRAINE, FAMILIAL HEMIPLEGIC, 2
OMIM	182340.0005	Disease	p.THR378ASN	ALTERNATING HEMIPLEGIA OF CHILDHOOD 1
OMIM	182340.0014	Disease	p.THR376MET	MIGRAINE, FAMILIAL HEMIPLEGIC, 2
OMIM	182340.0012	Disease	p.THR415MET	MIGRAINE, FAMILIAL HEMIPLEGIC, 2
OMIM	182340.0002	Disease	p.TRP887ARG	MIGRAINE, FAMILIAL HEMIPLEGIC, 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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