Results for the protein: Q9BX84

Results for the Protein: Q9BX84

56404951

140803

TRPM6

NCBI, UniProt

TRPM6_HUMAN RecName: Full=Transient receptor potential cation channel subfamily M member 6; AltName: Full=Channel kinase 2; AltName: Full=Melastatin-related TRP cation channel 6

Known Diseases associated with this Protein:
HYPOMAGNESEMIA 1 (HOMG1)
HYPOMAGNESEMIA WITH SECONDARY HYPOCALCEMIA

5

13

4

3

11

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Default View: Ion_trans - pfam00520 Alpha_kinase - smart00811 Alpha_kinase - pfam02816	Swiss-Prot Protein: Q9BX84 Identical to: NP_060132 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
Alpha_kinase	pfam02816	3.3e-67	1777	1972
Alpha_kinase	smart00811	6.1e-94	1754	1972

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_019964	Polymorphism	p.ASN1071ASP	N/A
Swiss-Prot	VAR_042391	Polymorphism	p.GLN1274ARG	N/A
Swiss-Prot	VAR_042392	Polymorphism	p.GLN1663ARG	N/A
Swiss-Prot	VAR_042387	Polymorphism	p.GLY75VAL	N/A
Swiss-Prot	VAR_042390	Polymorphism	p.HIS1243ARG	N/A
dbSNP	rs115354606	Polymorphism	p.HIS547TYR	N/A
Swiss-Prot	VAR_042393	Polymorphism	p.LEU1673SER	N/A
dbSNP	rs2274924	Polymorphism	p.LYS1584GLU	N/A
Swiss-Prot	VAR_042388	Polymorphism	p.MET338ILE	N/A
Swiss-Prot	VAR_052380	Polymorphism	p.PHE948LEU	N/A
Swiss-Prot	VAR_019963	Disease	p.SER141LEU	Hypomagnesemia 1 (HOMG1)
Swiss-Prot	VAR_042394	Polymorphism	p.THR1724ILE	N/A
Swiss-Prot	VAR_042389	Polymorphism	p.TRP1007CYS	N/A
dbSNP	rs3750425	Polymorphism	p.VAL1393ILE	N/A
OMIM	607009.0007	Disease	p.ARG484TER	HYPOMAGNESEMIA WITH SECONDARY HYPOCALCEMIA
OMIM	607009.0008	Disease	p.ARG56TER	HYPOMAGNESEMIA WITH SECONDARY HYPOCALCEMIA
OMIM	607009.0011	Disease	p.SER141LEU	HYPOMAGNESEMIA WITH SECONDARY HYPOCALCEMIA
OMIM	607009.0001	Disease	p.SER590TER	HYPOMAGNESEMIA WITH SECONDARY HYPOCALCEMIA

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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