Table 6.

Notable DARS2 Pathogenic Variants

Reference SequencesDNA Nucleotide ChangePredicted
Protein Change		Comment [Reference]
NM_108122​.5
NP_060592​.2 		c.228-21_228-20delTTinsCp.Arg76SerfsTer5Most common pathogenic variant reported
c.492+2T>Cp.Met134_Lys165delSee footnote 1.
c.455G>Tp.Cys152Phe
NG_016138​.1 Exon 12 deletion 2See footnote 2. Lan et al [2017]

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

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

1.

Several individuals share haplotypes involving five or six microsatellite markers on chromosome 1p25. The pathogenic variants c.492+2T>C and c.455G>T are correlated with two of these haplotypes and are often seen in affected individuals of northeastern European origin [Scheper et al 2007, Isohanni et al 2010].

2.

Variant designation that does not conform to current naming conventions; no breakpoints were delineated in the original report.

From: Leukoencephalopathy with Brain Stem and Spinal Cord Involvement and Lactate Elevation

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