Table 4.

Selected ANO5 Allelic Variants

Class of Variant AlleleDNA Nucleotide Change Protein Amino Acid ChangeReference Sequences
Benignc.966A>Tp.Leu322PheNM_213599​.2
NP_998764​.1
Pathogenicc.191dupA 1p.Asn64LysfsTer15
c.242A>Gp.Asp81Gly
c.692G>Tp.Gly231Val
c.1295C>Gp.Ala432GlyfsTer49
c.1407+5G>Ap.Glu445_Trp469del
c.1627dupAp.Met543AsnfsTer11
c.1643C>Tp.Thr548Ile
c.1733T>Cp.Phe578Ser
c.2101A>Gp.Asn701Asp
c.2272C>T 1p.Arg758Cys
c.2311_2312delCAp.Gln771AlafsTer8
c.1066T>Cp.Cys356Arg
c.1066T>Gp.Cys356Gly
c.1538C>Tp.Thr513Ile

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.

The most common mutations in northern European populations are c.191dupA in exon 5 and c.2272C>T in exon 20.

From: ANO5-Related Muscle Diseases

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