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Results for the Protein: Q9Y3Q4
38605641

HCN4_HUMAN RecName: Full=Potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel 4

Known Diseases associated with this Protein:
  SICK SINUS SYNDROME 2 (SSS2)
  SICK SINUS SYNDROME 2, AUTOSOMAL DOMINANT
5
1
3
0
3
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Default View:

Ion_trans_N - pfam08412
Ion_trans - pfam00520
Crp - COG0664
CAP_ED - cd00038
cNMP - smart00100
cNMP_binding - pfam00027


Swiss-Prot Protein: Q9Y3Q4
Identical to: NP_005468
   Default View:






Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
CAP_EDcd000386.8e-32595704
Ion_transpfam005208.2e-24297513
cNMP_bindingpfam000272.1e-23613698
Ion_trans_Npfam084122.5e-59217293
cNMPsmart001002.9e-22595710

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_066614Diseasep.ALA485VALSick sinus syndrome 2 (SSS2)
Swiss-ProtVAR_026534Polymorphismp.ASP553ASNN/A
Swiss-ProtVAR_026535Diseasep.SER672ARGSick sinus syndrome 2 (SSS2)
OMIM605206.0003 Diseasep.ASP553ASNSICK SINUS SYNDROME 2, AUTOSOMAL DOMINANT
OMIM605206.0004 Diseasep.GLY480ARGSICK SINUS SYNDROME 2, AUTOSOMAL DOMINANT
OMIM605206.0001 Diseasep.SER672ARGSICK SINUS SYNDROME 2, AUTOSOMAL DOMINANT



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