Results for the protein: Q92508

Results for the Protein: Q92508

317373533

9780

PIEZO1

NCBI, UniProt

PIEZ1_HUMAN RecName: Full=Piezo-type mechanosensitive ion channel component 1; AltName: Full=Membrane protein induced by beta-amyloid treatment; Short=Mib; AltName: Full=Protein FAM38A

Known Diseases associated with this Protein:
  DEHYDRATED HEREDITARY STOMATOCYTOSIS
  DEHYDRATED HEREDITARY STOMATOCYTOSIS AND PSEUDOHYPERKALEMIA
  DEHYDRATED HEREDITARY STOMATOCYTOSIS WITH OR WITHOUT PSEUDOHYPERKALEMIA AND/OR PERINATAL EDEMA (DHS)

19

13

7

13

12

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Default View: DUF3595 - pfam12166	Swiss-Prot Protein: Q92508 Identical to: NP_001136336 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_069827	Disease	p.ALA2003ASP	Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema (DHS)
Swiss-Prot	VAR_069828	Disease	p.ALA2020THR	Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema (DHS)
Swiss-Prot	VAR_069829	Disease	p.ALA2020VAL	Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema (DHS)
dbSNP	rs2290901	Polymorphism	p.ARG2245GLN	N/A
Swiss-Prot	VAR_069834	Disease	p.ARG2488GLN	Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema (DHS)
Swiss-Prot	VAR_069824	Disease	p.ARG808GLN	Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema (DHS)
dbSNP	rs13333358	Polymorphism	p.ARG407GLY	N/A
Swiss-Prot	VAR_069833	Disease	p.ARG2456HIS	Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema (DHS)
dbSNP	rs35265318	Polymorphism	p.ARG720HIS	N/A
Swiss-Prot	VAR_069826	Disease	p.ARG1358PRO	Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema (DHS)
dbSNP	rs8051003	Polymorphism	p.GLY1492ASP	N/A
dbSNP	rs78574543	Polymorphism	p.GLY1821SER	N/A
Swiss-Prot	VAR_069822	Disease	p.GLY718SER	Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema (DHS)
Swiss-Prot	VAR_069823	Disease	p.GLY782SER	Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema (DHS)
dbSNP	rs6500495	Polymorphism	p.ILE83SER	N/A
dbSNP	rs1803382	Polymorphism	p.ILE2265VAL	N/A
Swiss-Prot	VAR_069832	Disease	p.MET2225ARG	Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema (DHS)
dbSNP	rs4782430	Polymorphism	p.PHE1338LEU	N/A
dbSNP	rs11645197	Polymorphism	p.PRO1398LEU	N/A
dbSNP	rs7404939	Polymorphism	p.PRO152LEU	N/A
dbSNP	rs35159887	Polymorphism	p.PRO1857SER	N/A
Swiss-Prot	VAR_069825	Disease	p.SER1117LEU	Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema (DHS)
Swiss-Prot	VAR_069830	Disease	p.THR2127MET	Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema (DHS)
dbSNP	rs7184427	Polymorphism	p.VAL250ALA	N/A
dbSNP	rs6500493	Polymorphism	p.VAL394LEU	N/A
OMIM	611184.0003	Disease	p.ALA2020THR	DEHYDRATED HEREDITARY STOMATOCYTOSIS AND PSEUDOHYPERKALEMIA
OMIM	611184.0007	Disease	p.ALA2020VAL	DEHYDRATED HEREDITARY STOMATOCYTOSIS
OMIM	611184.0002	Disease	p.ARG2456HIS	DEHYDRATED HEREDITARY STOMATOCYTOSIS
OMIM	611184.0004	Disease	p.ARG1358PRO	DEHYDRATED HEREDITARY STOMATOCYTOSIS
OMIM	611184.0001	Disease	p.MET2225ARG	DEHYDRATED HEREDITARY STOMATOCYTOSIS
OMIM	611184.0007	Disease	p.SER1117LEU	DEHYDRATED HEREDITARY STOMATOCYTOSIS
OMIM	611184.0005	Disease	p.THR2127MET	DEHYDRATED HEREDITARY STOMATOCYTOSIS AND PSEUDOHYPERKALEMIA

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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