Gene: eukaryotic translation initiation factor 2 alpha kinase 4; EIF2AK4


Gene Symbol: EIF2AK4
OMIM: 609280
Chromosome location: 15q15.1

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Pulmonary venoocclusive disease 2 || c.3344C>T

Phenotype:    Pulmonary venoocclusive disease 2
Dna Change:    c.3344C>T
Protein Change:    p.Pro1115Leu
Mutation Type:    Substitution
Mutation Effect:    Missense
Location:    exon 23
Transcript:    NM_001013703.3

PopulationEthnic GroupRegionMutation FrquencyCoalescence TimeReference
SpainIberian GypsiesNA5 familiesNATenorio J et al., 2014Tenorio J, Navas P, Barrios E, Fernández L, Nevado J, Quezada CA, López-Meseguer M, Arias P, Mena R, Lobo JL, Alvarez C, Heath K, Escribano-Subías P, Lapunzina P, . A founder EIF2AK4 mutation causes an aggressive form of pulmonary arterial hypertension in Iberian Gypsies.. Clin. Genet.. 2014; 0(0):

References

Tenorio J, Navas P, Barrios E, Fernández L, Nevado J, Quezada CA, López-Meseguer M, Arias P, Mena R, Lobo JL, Alvarez C, Heath K, Escribano-Subías P, Lapunzina P, A founder EIF2AK4 mutation causes an aggressive form of pulmonary arterial hypertension in Iberian Gypsies.Clin. Genet.. 2014; 0(0):