Table 7.

Notable DYSF Pathogenic Variants

Reference SequencesDNA Nucleotide Change (Alias 1)Predicted Protein Change (Alias 1)Comment [Reference]
NM_003494​.4
NP_003485​.1 		c.2779delGp.Ala927LeufsTer21Founder variant in Jews of the Caucasus [Leshinsky-Silver et al 2007]
c.2997G>Tp.Trp999CysCommon variant assoc w/milder form [Izumi et al 2020]
c.3373delGp.Glu1125LysfsTer9Common variant assoc w/MMD [Izumi et al 2020]
c.4872delG
(1624delG)		p.Glu1624AspfsTer10Founder variant in Libyan Jewish population [Argov et al 2000]
c.5713C>T
(6086C>T)		p.Arg1905TerFounder variant in Spain [Vilchez et al 2005]
NG_008694​.1 c.5668-824C>Tp.Lys1889_Asp1890insTer47Common variant that results in inclusion of pseudoexon 50.1 [Dominov et al 2019]

MMD = Miyoshi muscular dystrophy

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.

Variant designation that does not conform to current naming conventions

From: Dysferlinopathy

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