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Results for the Protein: NP_001073347
120433600

cyclic nucleotide-gated cation channel alpha-3 isoform 2 [Homo sapiens]

Known Diseases associated with this Protein:
  ROD MONOCHROMACY
10
1
10
1
0
Tips:
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Default View:

Ion_trans - pfam00520
CAP_ED - cd00038
cNMP - smart00100
cNMP_binding - pfam00027




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
Ion_transpfam005202.2e-22187381
cNMP_bindingpfam000271.3e-18482575
cNMPsmart001001.3e-27464587

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs2271041 Polymorphismp.GLU180LYSN/A
OMIM600053.0009 Diseasep.ARG259CYSROD MONOCHROMACY
OMIM600053.0003 Diseasep.ARG265GLNROD MONOCHROMACY
OMIM600053.0002 Diseasep.ARG265TRPROD MONOCHROMACY
OMIM600053.0007 Diseasep.ARG393TRPROD MONOCHROMACY
OMIM600053.0010 Diseasep.ARG418TRPROD MONOCHROMACY
OMIM600053.0004 Diseasep.GLY539ARGROD MONOCHROMACY
OMIM600053.0006 Diseasep.PHE529LEUROD MONOCHROMACY
OMIM600053.0001 Diseasep.PRO145LEUROD MONOCHROMACY
OMIM600053.0005 Diseasep.THR273ARGROD MONOCHROMACY
OMIM600053.0008 Diseasep.VAL511METROD MONOCHROMACY



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