Table 1 Variants identified by exome sequencing in four cases of SCT.

From: A postnatal role for embryonic myosin revealed by MYH3 mutations that alter TGFβ signaling and cause autosomal dominant spondylocarpotarsal synostosis

Individual

Chromosome

Genomic position

Reference sequence

Variant sequence

Locus

cDNA position

Protein change

Inheritance

Polyphen-2 prediction

R06-109A

17

10545582

T/T

T/G

MYH3

c.1934T > G

p.Phe645Cys

Dominant De novo

Probably Damaging

R07-183B

17

10551879

TCC

Deleted

MYH3

c.727-729delTCC

p.Ser243del

Dominant Unknown

Probably Damaging

R12-336A

17

10543102

T/T

T/del

MYH3

c.2699delT

p.Leu900fs9

Dominant Unknown

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