Results for the protein: Q96QT4

Results for the Protein: Q96QT4

56404941

54822

TRPM7

NCBI, UniProt

TRPM7_HUMAN RecName: Full=Transient receptor potential cation channel subfamily M member 7; AltName: Full=Channel-kinase 1; AltName: Full=Long transient receptor potential channel 7; Short=LTrpC-7; Short=LTrpC7

			0 15 0 3 12

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Default View: Ion_trans - pfam00520 Alpha_kinase - smart00811 Alpha_kinase - pfam02816	Swiss-Prot Protein: Q96QT4 Identical to: NP_060142 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
Alpha_kinase	pfam02816	5.8e-71	1621	1816
Alpha_kinase	smart00811	6.7e-97	1598	1816

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs34530969	Polymorphism	p.ALA1033GLY	N/A
Swiss-Prot	VAR_042404	Polymorphism	p.ALA1254VAL	N/A
Swiss-Prot	VAR_042406	Polymorphism	p.ARG1444LYS	N/A
Swiss-Prot	VAR_042405	Polymorphism	p.ASP1306GLU	N/A
Swiss-Prot	VAR_042402	Polymorphism	p.GLN1064ARG	N/A
Swiss-Prot	VAR_042395	Polymorphism	p.GLY68VAL	N/A
Swiss-Prot	VAR_042403	Polymorphism	p.ILE1211THR	N/A
Swiss-Prot	VAR_042397	Polymorphism	p.ILE459THR	N/A
dbSNP	rs34711809	Polymorphism	p.ILE1145VAL	N/A
Swiss-Prot	VAR_042398	Polymorphism	p.LYS574ASN	N/A
Swiss-Prot	VAR_042400	Polymorphism	p.MET830VAL	N/A
Swiss-Prot	VAR_042401	Polymorphism	p.PHE949TYR	N/A
Swiss-Prot	VAR_042396	Polymorphism	p.SER406CYS	N/A
dbSNP	rs8042919	Polymorphism	p.THR1482ILE	N/A
Swiss-Prot	VAR_042399	Polymorphism	p.THR720SER	N/A

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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