Results for the protein: Q7Z4N2

Results for the Protein: Q7Z4N2

182701419

4308

TRPM1

NCBI, UniProt

TRPM1_HUMAN RecName: Full=Transient receptor potential cation channel subfamily M member 1; AltName: Full=Long transient receptor potential channel 1; Short=LTrpC1; AltName: Full=Melastatin-1

Known Diseases associated with this Protein:
NIGHT BLINDNESS, CONGENITAL STATIONARY, 1C (CSNB1C)
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1C

17

15

5

5

22

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Default View: Ion_trans - pfam00520	Swiss-Prot Protein: Q7Z4N2 Identical to: NP_002411 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_063176	Disease	p.ARG74CYS	Night blindness, congenital stationary, 1C (CSNB1C)
Swiss-Prot	VAR_063184	Disease	p.ARG721GLN	Night blindness, congenital stationary, 1C (CSNB1C)
Swiss-Prot	VAR_052375	Polymorphism	p.ARG1422GLY	N/A
Swiss-Prot	VAR_063191	Polymorphism	p.ARG1438GLY	N/A
Swiss-Prot	VAR_052373	Polymorphism	p.ARG1305HIS	N/A
Swiss-Prot	VAR_063180	Disease	p.ARG473PRO	Night blindness, congenital stationary, 1C (CSNB1C)
Swiss-Prot	VAR_063190	Polymorphism	p.ARG1422TRP	N/A
Swiss-Prot	VAR_063173	Polymorphism	p.ARG6TRP	N/A
dbSNP	rs17227996	Polymorphism	p.ASN1229THR	N/A
Swiss-Prot	VAR_063188	Polymorphism	p.GLN1161HIS	N/A
Swiss-Prot	VAR_063185	Disease	p.GLU883GLY	Night blindness, congenital stationary, 1C (CSNB1C)
Swiss-Prot	VAR_063181	Disease	p.GLY534ARG	Night blindness, congenital stationary, 1C (CSNB1C)
dbSNP	rs12898290	Polymorphism	p.HIS1498GLN	N/A
Swiss-Prot	VAR_063187	Disease	p.ILE1002PHE	Night blindness, congenital stationary, 1C (CSNB1C)
Swiss-Prot	VAR_063178	Disease	p.LEU364ARG	Night blindness, congenital stationary, 1C (CSNB1C)
Swiss-Prot	VAR_063177	Disease	p.LEU99PRO	Night blindness, congenital stationary, 1C (CSNB1C)
Swiss-Prot	VAR_063182	Disease	p.MET541LYS	Night blindness, congenital stationary, 1C (CSNB1C)
dbSNP	rs4779816	Polymorphism	p.MET1THR	N/A
Swiss-Prot	VAR_063186	Polymorphism	p.MET962THR	N/A
Swiss-Prot	VAR_063183	Disease	p.PRO611HIS	Night blindness, congenital stationary, 1C (CSNB1C)
Swiss-Prot	VAR_063189	Polymorphism	p.PRO1379THR	N/A
Swiss-Prot	VAR_063179	Polymorphism	p.PRO399THR	N/A
dbSNP	rs2241493	Polymorphism	p.SER32ASN	N/A
Swiss-Prot	VAR_063174	Disease	p.TYR56CYS	Night blindness, congenital stationary, 1C (CSNB1C)
Swiss-Prot	VAR_063175	Disease	p.TYR72CYS	Night blindness, congenital stationary, 1C (CSNB1C)
dbSNP	rs3784588	Polymorphism	p.VAL1395ILE	N/A
Swiss-Prot	VAR_052371	Polymorphism	p.VAL605MET	N/A
OMIM	603576.0008	Disease	p.ARG585CYS	NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1C
OMIM	603576.0005	Disease	p.LEU60PRO	NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1C
OMIM	603576.0006	Disease	p.PRO572HIS	NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1C
OMIM	603576.0009	Disease	p.SER843TER	NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1C
OMIM	603576.0003	Disease	p.TYR996TER	NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1C

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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