Home News About DMDM Database Statistics Research Publications Contact  

Results for the Protein: NP_742053
26051271

potassium voltage-gated channel subfamily H member 2 isoform b [Homo sapiens]

Known Diseases associated with this Protein:
  LONG QT SYNDROME 2
  LONG QT SYNDROME 2, ACQUIRED, SUSCEPTIBILITY TO
  LONG QT SYNDROME 2/3, DIGENIC
  LONG QT SYNDROME, BRADYCARDIA-INDUCED
  SHORT QT SYNDROME 1
15
0
15
0
0
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:

PAS - cd00130
PAC - smart00086
Ion_trans - pfam00520
Ion_trans_2 - pfam07885
cNMP - smart00100


RefSeq Protein: NP_742053
   Default View:




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
Ion_transpfam005207e-28454659
PACsmart000866e-0793135
Ion_trans_2pfam078852.8e-07582660
cNMPsmart001000.00069742857

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
OMIM152427.0025 Diseasep.ALA558PROLONG QT SYNDROME 2
OMIM152427.0011 Diseasep.ALA490THRLONG QT SYNDROME, BRADYCARDIA-INDUCED
OMIM152427.0001 Diseasep.ALA561VALLONG QT SYNDROME 2
OMIM152427.0026 Diseasep.ALA614VALLONG QT SYNDROME 2
OMIM152427.0009 Diseasep.ARG582CYSLONG QT SYNDROME 2
OMIM152427.0016 Diseasep.ARG752GLNLONG QT SYNDROME 2
OMIM152427.0023 Diseasep.ARG100GLYLONG QT SYNDROME 2/3, DIGENIC
OMIM152427.0014 Diseasep.ARG784TRPLONG QT SYNDROME 2, ACQUIRED, SUSCEPTIBILITY TO
OMIM152427.0002 Diseasep.ASN470ASPLONG QT SYNDROME 2
OMIM152427.0017 152427.0018 Diseasep.ASN588LYSSHORT QT SYNDROME 1
OMIM152427.0010 Diseasep.GLY572ARGLONG QT SYNDROME 2
OMIM152427.0008 Diseasep.GLY628SERLONG QT SYNDROME 2
OMIM152427.0004 Diseasep.ILE593ARGLONG QT SYNDROME 2
OMIM152427.0015 Diseasep.THR65PROLONG QT SYNDROME 2
OMIM152427.0027 Diseasep.TYR611HISLONG QT SYNDROME 2



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