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Results for the Protein: NP_001005407
53832011

voltage-dependent T-type calcium channel subunit alpha-1H isoform b [Homo sapiens]

Known Diseases associated with this Protein:
  EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 6
  EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 6
7
12
7
12
0
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Default View:

Ion_trans - pfam00520
PKD_channel - pfam08016




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
Ion_transpfam005206.1e-548271014
Ion_transpfam005205.9e-7313301554
Ion_transpfam005208.1e-5716451853
PKD_channelpfam080160.0005215111860

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs72552056 Polymorphismp.ARG1999CYSN/A
dbSNPrs3751664 Polymorphismp.ARG788CYSN/A
dbSNPrs58124832 Polymorphismp.ARG1865GLNN/A
dbSNPrs1054644 Polymorphismp.ARG2054HISN/A
dbSNPrs1054645 Polymorphismp.ARG2071HISN/A
dbSNPrs61747577 Polymorphismp.ARG603LYSN/A
dbSNPrs2745136 Polymorphismp.ASP1904GLUN/A
dbSNPrs3751886 Polymorphismp.GLU1968GLYN/A
dbSNPrs36117280 Polymorphismp.MET313VALN/A
dbSNPrs61734410 Polymorphismp.PRO640LEUN/A
dbSNPrs4984636 Polymorphismp.VAL664ALAN/A
dbSNPrs61910722 Polymorphismp.VAL464GLYN/A
OMIM607904.0006 Diseasep.ALA876THREPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 6
OMIM607904.0004 Diseasep.ARG788CYSEPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 6
OMIM607904.0002 Diseasep.GLU282LYSEPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 6
OMIM607904.0004 Diseasep.GLY773ASPEPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 6
OMIM607904.0001 Diseasep.PHE161LEUEPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 6
OMIM607904.0005 Diseasep.PRO618LEUEPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 6
OMIM607904.0003 Diseasep.VAL831METEPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 6



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