Gene: megalencephalic leukoencephalopathy with subcortical cysts 1; MLC1


Gene Symbol: MLC1
OMIM: 605908
Chromosome location: 22q13.33

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Megalencephalic leukoencephalopathy with subcortical cysts || c.176G>A

Phenotype:    Megalencephalic leukoencephalopathy with subcortical cysts
Dna Change:    c.176G>A
Protein Change:    p.Gly59Glu
Mutation Type:    Substitution
Mutation Effect:    Missense
Location:    exon 2
Transcript:    NM_015166.3

PopulationEthnic GroupRegionMutation FrquencyCoalescence TimeReference
LibyaJewsNAcarrier rate of 1 in 40NABen-Zeev B et al., 2002Ben-Zeev B, Levy-Nissenbaum E, Lahat H, Anikster Y, Shinar Y, Brand N, Gross-Tzur V, MacGregor D, Sidi R, Kleta R, Frydman M, Pras E, . Megalencephalic leukoencephalopathy with subcortical cysts; a founder effect in Israeli patients and a higher than expected carrier rate among Libyan Jews.. Hum. Genet.. 2002; 111(2):214-8

Megalencephalic leukoencephalopathy with subcortical cysts || c.353C>G

Phenotype:    Megalencephalic leukoencephalopathy with subcortical cysts
Dna Change:    c.353C>G
Protein Change:    p.Thr118Arg
Mutation Type:    Substitution
Mutation Effect:    Missense
Location:    exon 5
Transcript:    NM_015166.3

PopulationEthnic GroupRegionMutation FrquencyCoalescence TimeReference
TurkeyNANA3 patients/ 13 patientsNAYüzbaşioğlu A et al., 2011Yüzbaşioğlu A, Topçu M, Cetin Kocaefe Y, Ozgüç M, . Novel mutations of the MLC1 gene in Turkish patients.. Eur J Med Genet. 2011; 54(3):281-3

Megalencephalic leukoencephalopathy with subcortical cysts || c.235G>A

Phenotype:    Megalencephalic leukoencephalopathy with subcortical cysts
Dna Change:    c.235G>A
Protein Change:    p.Glu79Lys
Mutation Type:    Substitution
Mutation Effect:    Missense
Location:    exon 3
Transcript:    NM_015166.3

PopulationEthnic GroupRegionMutation FrquencyCoalescence TimeReference
TurkeyNANA2 patients/ 13 patientsNAYüzbaşioğlu A et al., 2011Yüzbaşioğlu A, Topçu M, Cetin Kocaefe Y, Ozgüç M, . Novel mutations of the MLC1 gene in Turkish patients.. Eur J Med Genet. 2011; 54(3):281-3

References

Ben-Zeev B, Levy-Nissenbaum E, Lahat H, Anikster Y, Shinar Y, Brand N, Gross-Tzur V, MacGregor D, Sidi R, Kleta R, Frydman M, Pras E, Megalencephalic leukoencephalopathy with subcortical cysts; a founder effect in Israeli patients and a higher than expected carrier rate among Libyan Jews.Hum. Genet.. 2002; 111(2):214-8

Yüzbaşioğlu A, Topçu M, Cetin Kocaefe Y, Ozgüç M, Novel mutations of the MLC1 gene in Turkish patients.Eur J Med Genet. 2011; 54(3):281-3