Results for the protein: P98194

Results for the Protein: P98194

68068024

27032

ATP2C1

NCBI, UniProt

AT2C1_HUMAN RecName: Full=Calcium-transporting ATPase type 2C member 1; Short=ATPase 2C1; AltName: Full=ATP-dependent Ca(2+) pump PMR1

Known Diseases associated with this Protein:
HAILEY-HAILEY DISEASE
HAILEY-HAILEY DISEASE (HHD)

21

2

4

2

17

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 Hydrolase - pfam00702 COG4087 - COG4087 Cation_ATPase_C - pfam00689	Swiss-Prot Protein: P98194 Identical to: NP_001001486, NP_055197, NP_001186108 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
ZntA	COG2217	6.5e-11	22	739
Cation_ATPase_N	pfam00690	4e-20	26	94
KdpB	COG2216	8.7e-10	54	752
E1-E2_ATPase	pfam00122	1.5e-83	105	340
Hydrolase	pfam00702	4.4e-07	344	656
COG4087	COG4087	1.4e-05	553	692
Cation_ATPase_C	pfam00689	7.9e-60	726	898
Cation_ATPase_N	smart00831	5.7e-16	36	99

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_008803	Disease	p.ALA304THR	Hailey-Hailey disease (HHD)
dbSNP	rs41434650	Polymorphism	p.ALA450THR	N/A
Swiss-Prot	VAR_022676	Disease	p.ASP742TYR	Hailey-Hailey disease (HHD)
Swiss-Prot	VAR_022674	Disease	p.CYS411ARG	Hailey-Hailey disease (HHD)
Swiss-Prot	VAR_019523	Disease	p.CYS490PHE	Hailey-Hailey disease (HHD)
Swiss-Prot	VAR_010131	Disease	p.CYS344TYR	Hailey-Hailey disease (HHD)
Swiss-Prot	VAR_008806	Disease	p.GLY645ARG	Hailey-Hailey disease (HHD)
Swiss-Prot	VAR_022677	Disease	p.GLY789ARG	Hailey-Hailey disease (HHD)
Swiss-Prot	VAR_022672	Disease	p.GLY309CYS	Hailey-Hailey disease (HHD)
Swiss-Prot	VAR_022675	Disease	p.ILE580VAL	Hailey-Hailey disease (HHD)
Swiss-Prot	VAR_008804	Disease	p.LEU318PRO	Hailey-Hailey disease (HHD)
Swiss-Prot	VAR_022673	Disease	p.LEU341PRO	Hailey-Hailey disease (HHD)
Swiss-Prot	VAR_019524	Disease	p.LEU584PRO	Hailey-Hailey disease (HHD)
Swiss-Prot	VAR_008805	Disease	p.MET641ARG	Hailey-Hailey disease (HHD)
Swiss-Prot	VAR_008808	Disease	p.PRO744ARG	Hailey-Hailey disease (HHD)
Swiss-Prot	VAR_010130	Disease	p.PRO201LEU	Hailey-Hailey disease (HHD)
dbSNP	rs61731514	Polymorphism	p.SER298ARG	N/A
Swiss-Prot	VAR_010132	Disease	p.THR570ILE	Hailey-Hailey disease (HHD)
Swiss-Prot	VAR_008807	Disease	p.THR709MET	Hailey-Hailey disease (HHD)
OMIM	604384.0002	Disease	p.ALA270THR	HAILEY-HAILEY DISEASE
OMIM	604384.0003	Disease	p.ARG434TER	HAILEY-HAILEY DISEASE
OMIM	604384.0006	Disease	p.CYS456PHE	HAILEY-HAILEY DISEASE
OMIM	604384.0008	Disease	p.LEU550PRO	HAILEY-HAILEY DISEASE

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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