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Results for the Protein: NP_001243718
377823715
778

voltage-dependent L-type calcium channel subunit alpha-1F isoform 2 [Homo sapiens]

Known Diseases associated with this Protein:
  NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A
  NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A, SEVERE
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Tips:
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Default View:

Ion_trans - pfam00520
Ca_chan_IQ - pfam08763




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
Ion_transpfam005201.8e-59552746
Ion_transpfam005203.9e-738951125
Ion_transpfam005202.2e-7112131429
Ca_chan_IQpfam087637.6e-1715651596

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
OMIM300110.0004 Diseasep.ARG819TERNIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A
OMIM300110.0002 Diseasep.ARG947TERNIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A
OMIM300110.0001 Diseasep.GLY369ASPNIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A
OMIM300110.0006 Diseasep.ILE734THRNIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A, SEVERE



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