Results for the protein: P16615

Results for the Protein: P16615

114312

488

ATP2A2

NCBI, UniProt

AT2A2_HUMAN RecName: Full=Sarcoplasmic/endoplasmic reticulum calcium ATPase 2; Short=SERCA2; Short=SR Ca(2+)-ATPase 2; AltName: Full=Calcium pump 2; AltName: Full=Calcium-transporting ATPase sarcoplasmic reticulum type, slow twitch skeletal muscle isoform; AltName: Full=Endoplasmic reticulum class 1/2 Ca(2+) ATPase

Known Diseases associated with this Protein:
  ACROKERATOSIS VERRUCIFORMIS
  ACROKERATOSIS VERRUCIFORMIS (AKV)
  DARIER DISEASE
  DARIER DISEASE (DD)
  DARIER DISEASE, ACRAL HEMORRHAGIC TYPE
  DARIER DISEASE, SEGMENTAL

42

0

10

0

32

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Default View: Cation_ATPase_N - smart00831	Swiss-Prot Protein: P16615 Identical to: NP_733765 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_008627	Disease	p.ALA745ASP	Darier disease (DD)
Swiss-Prot	VAR_008633	Disease	p.ALA838PRO	Darier disease (DD)
Swiss-Prot	VAR_008632	Disease	p.ALA803THR	Darier disease (DD)
Swiss-Prot	VAR_008612	Disease	p.ARG131GLN	Darier disease (DD)
Swiss-Prot	VAR_008630	Disease	p.ASN767SER	Darier disease (DD)
Swiss-Prot	VAR_008609	Disease	p.ASN39THR	Darier disease (DD)
Swiss-Prot	VAR_008626	Disease	p.ASP702ASN	Darier disease (DD)
Swiss-Prot	VAR_008619	Disease	p.CYS318ARG	Darier disease (DD)
Swiss-Prot	VAR_008623	Disease	p.CYS560ARG	Darier disease (DD)
Swiss-Prot	VAR_008635	Disease	p.CYS875GLY	Darier disease (DD)
Swiss-Prot	VAR_008617	Disease	p.CYS268PHE	Darier disease (DD)
Swiss-Prot	VAR_008621	Disease	p.GLU412GLY	Darier disease (DD)
Swiss-Prot	VAR_009509	Disease	p.GLY749ARG	Darier disease (DD)
Swiss-Prot	VAR_008631	Disease	p.GLY769ARG	Darier disease (DD)
Swiss-Prot	VAR_008615	Disease	p.GLY211ASP	Darier disease (DD)
Swiss-Prot	VAR_008608	Disease	p.GLY23GLU	Darier disease (DD)
Swiss-Prot	VAR_008618	Disease	p.GLY310VAL	Darier disease (DD)
Swiss-Prot	VAR_008637	Disease	p.HIS943ARG	Darier disease (DD)
Swiss-Prot	VAR_008620	Disease	p.ILE348THR	Darier disease (DD)
Swiss-Prot	VAR_008611	Disease	p.LEU65SER	Darier disease (DD)
Swiss-Prot	VAR_008625	Disease	p.LYS683GLU	Darier disease (DD)
Swiss-Prot	VAR_008624	Disease	p.PHE675SER	Darier disease (DD)
Swiss-Prot	VAR_008638	Disease	p.PRO975ARG	Darier disease (DD)
Swiss-Prot	VAR_008613	Disease	p.PRO160LEU	Darier disease (DD)
Swiss-Prot	VAR_017532	Disease	p.PRO602LEU	Acrokeratosis verruciformis (AKV)
Swiss-Prot	VAR_008629	Disease	p.SER765LEU	Darier disease (DD)
Swiss-Prot	VAR_008622	Disease	p.SER495PHE	Darier disease (DD)
Swiss-Prot	VAR_008614	Disease	p.SER186PRO	Darier disease (DD)
Swiss-Prot	VAR_008636	Disease	p.SER920TYR	Darier disease (DD)
Swiss-Prot	VAR_009508	Disease	p.THR357LYS	Darier disease (DD)
Swiss-Prot	VAR_008616	Disease	p.VAL223MET	Darier disease (DD)
Swiss-Prot	VAR_008634	Disease	p.VAL843PHE	Darier disease (DD)
OMIM	108740.0013	Disease	p.ALA698VAL	ACROKERATOSIS VERRUCIFORMIS
OMIM	108740.0012	Disease	p.ARG131GLN	DARIER DISEASE
OMIM	108740.0004	Disease	p.ASN767SER	DARIER DISEASE, ACRAL HEMORRHAGIC TYPE
OMIM	108740.0006	Disease	p.CYS560ARG	DARIER DISEASE
OMIM	108740.0005	Disease	p.CYS268PHE	DARIER DISEASE, ACRAL HEMORRHAGIC TYPE
OMIM	108740.0002	Disease	p.GLN108TER	DARIER DISEASE
OMIM	108740.0010	Disease	p.GLY769ARG	DARIER DISEASE, SEGMENTAL
OMIM	108740.0001	Disease	p.GLY23GLU	DARIER DISEASE
OMIM	108740.0011	Disease	p.PRO602LEU	ACROKERATOSIS VERRUCIFORMIS
OMIM	108740.0009	Disease	p.TYR894TER	DARIER DISEASE, SEGMENTAL

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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