Table 6.

Notable ATL1 Pathogenic Variants

Reference
Sequences		DNA Nucleotide
Change (Alias 1)		Predicted
Protein Change		Comment [Reference]
NM_015915​.4
NP_056999​.2 		c.470T>Gp.Leu157Trp Rainier et al [2006]
c.715C>T
(884C>T)		p.Arg239CysRecurrent variant, possibly caused by methylated CpG dinucleotide hot spot [Zhao et al 2001]
c.1243C>Tp.Arg415TrpThis variant shows incomplete penetrance [D'Amico et al 2004].

Variants listed in the table have been provided by the author. 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.

Variant designation that does not conform to current naming conventions

From: Spastic Paraplegia 3A

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