Hypothesis

Here, we report detailed biochemical characterization and mechanochemical cycle modeling of recombinant human β-cardiac myosin motor domains carrying five DCM mutations

DiseaseAssertion: DCM

Variant1: NM_000257.3(MYH7):c.602T>C (p.Ile201Thr)

ClinVar: 43093, https://www.ncbi.nlm.nih.gov/clinvar/variation/43093/

gnomAD: n/a

Variant2: NM_000257.3(MYH7):c.667G>A (p.Ala223Thr)

ClinVar: 14112, https://www.ncbi.nlm.nih.gov/clinvar/variation/14112/

gnomAD: 0.000003976, https://gnomad.broadinstitute.org/variant/14-23900859-C-T

Variant3: NM_000257.3(MYH7):c.709C>T (p.Arg237Trp)

ClinVar: 43098, https://www.ncbi.nlm.nih.gov/clinvar/variation/43098/

gnomAD: 0.00001193, https://gnomad.broadinstitute.org/variant/14-23900817-G-A

Variant4: NM_000257.3(MYH7):c.1594T>C (p.Ser532Pro)

ClinVar: 14108, https://www.ncbi.nlm.nih.gov/clinvar/variation/14108/

gnomAD: n/a

Variant5: NM_000257.3(MYH7):c.2292C>G (p.Phe764Leu)

ClinVar: 14109, https://www.ncbi.nlm.nih.gov/clinvar/variation/14109/

gnomAD: n/a

DCM ClinVarID:3093 ClinVarID:14112 ClinVarID:43098 ClinVarID:14108 ClinVarID:14109 NoInheritanceAssertion inferred_gene_hgnc:7577 inferred_gene_source:RefSeq Cardiomyopathy Annotation

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