Table 2.

Selected MLC1 Allelic Variants

Variant ClassificationDNA Nucleotide ChangePredicted Protein ChangeReference Sequences
Benignc.512G>T 1p.Cys171PheNM_015166​.3
NP_055981​.1
c.654C>A 1p.Asn218Lys
c.925C>A 1p.Leu309Met
c.1031A>G 1p.Asn344Ser
Pathogenicc.135insCp.Cys46LeufsTer34
c.176G>Ap.Gly59Glu
c.178-10T>A--
c.298_423del126+108del 2p.Thr99fsTer
c.278C>Tp.Ser93Leu

Note on variant classification: Variants listed in the table have been provided by the authors. GeneReviews staff have not independently verified the classification of variants.

Note on nomenclature: GeneReviews follows the standard naming conventions of the Human Genome Variation Society (www​.hgvs.org). See Quick Reference for an explanation of nomenclature.

1.

Frequency of normal variants: c.512G>T (9%); c.654C>A (1.5%); c.925C>A (0.7%); c.1031A>G (11%)

2.

Describes the deletion of 126 nucleotides in an exon and deletion of 108 additional nucleotides after base 423, which is at a splice donor site. The total deletion of exon and intron sequences is 234 nucleotides.

From: Megalencephalic Leukoencephalopathy with Subcortical Cysts

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