Results for the protein: NP

Results for the Protein: NP_001243142

371940938

478

ATP1A3

NCBI

sodium/potassium-transporting ATPase subunit alpha-3 isoform 2 [Homo sapiens]

Known Diseases associated with this Protein:
ALTERNATING HEMIPLEGIA OF CHILDHOOD 2
DYSTONIA 12

11

0

11

0

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: MgtA - COG0474 ZntA - COG2217 Cation_ATPase_N - pfam00690 Cation_ATPase_N - smart00831 KdpB - COG2216 E1-E2_ATPase - pfam00122 Cation_ATPase_C - pfam00689	RefSeq Protein: NP_001243142 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
ZntA	COG2217	1.6e-10	37	838
Cation_ATPase_N	pfam00690	2.3e-23	44	112
KdpB	COG2216	2.9e-09	74	821
E1-E2_ATPase	pfam00122	3.3e-81	136	367
Cation_ATPase_C	pfam00689	3.3e-47	800	1009
Cation_ATPase_N	smart00831	1.2e-19	54	117

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
OMIM	182350.0009	Disease	p.ASP799ASN	ALTERNATING HEMIPLEGIA OF CHILDHOOD 2
OMIM	182350.0007	Disease	p.ASP921ASN	DYSTONIA 12
OMIM	182350.0006	Disease	p.ASP799TYR	DYSTONIA 12
OMIM	182350.0003	Disease	p.GLU275LYS	DYSTONIA 12
OMIM	182350.0010	Disease	p.GLU813LYS	ALTERNATING HEMIPLEGIA OF CHILDHOOD 2
OMIM	182350.0012	Disease	p.GLY945ARG	ALTERNATING HEMIPLEGIA OF CHILDHOOD 2
OMIM	182350.0004	Disease	p.ILE756SER	DYSTONIA 12
OMIM	182350.0002	Disease	p.ILE272THR	DYSTONIA 12
OMIM	182350.0005	Disease	p.PHE778LEU	DYSTONIA 12
OMIM	182350.0011	Disease	p.SER809PRO	ALTERNATING HEMIPLEGIA OF CHILDHOOD 2
OMIM	182350.0001	Disease	p.THR611MET	DYSTONIA 12

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