Table 2.

Selected MYH9 Allelic Variants

Variant ClassificationDNA Nucleotide ChangeMYH9 Protein DomainMYH9 Protein RegionProtein Amino Acid ChangeReference Sequences
Pathogenicc.279C>GHeadSH3/MD ip.Asn93Lys
c.287C>THeadSH3/MD ip.Ser96Leu
c.2104C>THeadSH1 helixp.Arg702Cys
c.2105G>AHeadSH1 helixp.Arg702His

SH3/MD i = interface between the SH3-like motif and the motor domain

NHT = non-helical tailpiece

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​ See Quick Reference for an explanation of nomenclature.

From: MYH9-Related Disorders

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