Table 4.

MYH7 Pathogenic Variants Associated with Congenital Fiber-Type Disproportion Discussed in This GeneReview

Nucleotide ChangePredicted Protein ChangeReference Sequences
c.5186_5188delAGAp.Lys1729del NM_000257​.2
NP_000248​.2
c.5807A>Gp.Ter1936TrpextTer31 1

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.

Ter indicates nucleotide(s) are 3' of the translation stop codon; "extTer#" is used to indicate the extension of a protein sequence until a new stop codon is reached at "#" amino acids downstream as a consequence of a variant changing the natural stop codon into an amino acid.

From: Congenital Fiber-Type Disproportion – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY

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