Home News About DMDM Database Statistics Research Publications Contact  

Results for the Protein: Q7Z4N2
182701419

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
Tips:
 The Domains on the Default View are decided by the Domain's E-Value.

 Clicking a check box will display or hide the correlated domain.

 To view the Gene page, either click on the link to the left or the blue bar above the Protein's graphic.



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 ↕
Ion_transpfam005204.1e-168621075

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_063176Diseasep.ARG74CYSNight blindness, congenital stationary, 1C (CSNB1C)
Swiss-ProtVAR_063184Diseasep.ARG721GLNNight blindness, congenital stationary, 1C (CSNB1C)
Swiss-ProtVAR_052375Polymorphismp.ARG1422GLYN/A
Swiss-ProtVAR_063191Polymorphismp.ARG1438GLYN/A
Swiss-ProtVAR_052373Polymorphismp.ARG1305HISN/A
Swiss-ProtVAR_063180Diseasep.ARG473PRONight blindness, congenital stationary, 1C (CSNB1C)
Swiss-ProtVAR_063190Polymorphismp.ARG1422TRPN/A
Swiss-ProtVAR_063173Polymorphismp.ARG6TRPN/A
dbSNPrs17227996 Polymorphismp.ASN1229THRN/A
Swiss-ProtVAR_063188Polymorphismp.GLN1161HISN/A
Swiss-ProtVAR_063185Diseasep.GLU883GLYNight blindness, congenital stationary, 1C (CSNB1C)
Swiss-ProtVAR_063181Diseasep.GLY534ARGNight blindness, congenital stationary, 1C (CSNB1C)
dbSNPrs12898290 Polymorphismp.HIS1498GLNN/A
Swiss-ProtVAR_063187Diseasep.ILE1002PHENight blindness, congenital stationary, 1C (CSNB1C)
Swiss-ProtVAR_063178Diseasep.LEU364ARGNight blindness, congenital stationary, 1C (CSNB1C)
Swiss-ProtVAR_063177Diseasep.LEU99PRONight blindness, congenital stationary, 1C (CSNB1C)
Swiss-ProtVAR_063182Diseasep.MET541LYSNight blindness, congenital stationary, 1C (CSNB1C)
dbSNPrs4779816 Polymorphismp.MET1THRN/A
Swiss-ProtVAR_063186Polymorphismp.MET962THRN/A
Swiss-ProtVAR_063183Diseasep.PRO611HISNight blindness, congenital stationary, 1C (CSNB1C)
Swiss-ProtVAR_063189Polymorphismp.PRO1379THRN/A
Swiss-ProtVAR_063179Polymorphismp.PRO399THRN/A
dbSNPrs2241493 Polymorphismp.SER32ASNN/A
Swiss-ProtVAR_063174Diseasep.TYR56CYSNight blindness, congenital stationary, 1C (CSNB1C)
Swiss-ProtVAR_063175Diseasep.TYR72CYSNight blindness, congenital stationary, 1C (CSNB1C)
dbSNPrs3784588 Polymorphismp.VAL1395ILEN/A
Swiss-ProtVAR_052371Polymorphismp.VAL605METN/A
OMIM603576.0008 Diseasep.ARG585CYSNIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1C
OMIM603576.0005 Diseasep.LEU60PRONIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1C
OMIM603576.0006 Diseasep.PRO572HISNIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1C
OMIM603576.0009 Diseasep.SER843TERNIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1C
OMIM603576.0003 Diseasep.TYR996TERNIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1C



   |   1000 Hilltop Circle, Baltimore, MD 21250   |   Department of Biological Sciences   |   Phone: 410-455-2258