MYH3 Chromosome 17
Myosin heavy chain 3
Upload your DNA to see your personal genotypes for variants in MYH3.
What This Gene Does
Myosin is a major contractile protein which converts chemical energy into mechanical energy through the hydrolysis of ATP. Myosin is a hexameric protein composed of a pair of myosin heavy chains (MYH) and two pairs of nonidentical light chains. This gene is a member of the MYH family and encodes a protein with an IQ domain and a myosin head-like domain. Mutations in this gene have been associated with two congenital contracture (arthrogryposis) syndromes, Freeman-Sheldon syndrome and Sheldon-Hall syndrome. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Myosin heavy chains, class II
Locus Type
gene with protein product
Location
17p13.1
Ensembl
ENSG00000109063
Associated Conditions (26)
Contractures
pterygia
and spondylocarpotarsal fusion syndrome 1A
Distal arthrogryposis type 2B1
Freeman-Sheldon syndrome
MYH3-related disorder
Arthrogryposis
distal
type 2B3
Inborn genetic diseases
Rhabdomyolysis
Meniere disease
and variable skeletal fusions syndrome 1B
Gastric cancer
Hepatocellular carcinoma
Clear cell carcinoma of kidney
Thyroid cancer
nonmedullary
1
Melanoma
+6 more conditions
Key Variants
RS1031781302
Conflicting classifications of pathogenicity
Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A
Health Risk
RS1057518008
Conflicting classifications of pathogenicity
Health Risk
RS115742228
Conflicting classifications of pathogenicity
Distal arthrogryposis type 2B1, Freeman-Sheldon syndrome, MYH3-related disorder
Health Risk
RS121913621
Conflicting classifications of pathogenicity
Arthrogryposis, distal, type 2B3
Health Risk
RS121913623
Conflicting classifications of pathogenicity
Arthrogryposis, distal, type 2B3
Health Risk
RS1377740859
Conflicting classifications of pathogenicity
Freeman-Sheldon syndrome, Distal arthrogryposis type 2B1, Freeman-Sheldon syndrome
Health Risk
RS137974114
Conflicting classifications of pathogenicity
Freeman-Sheldon syndrome, Distal arthrogryposis type 2B1, Freeman-Sheldon syndrome
Health Risk
RS138194008
Conflicting classifications of pathogenicity
Freeman-Sheldon syndrome, Distal arthrogryposis type 2B1, Inborn genetic diseases
Health Risk
RS139480342
Conflicting classifications of pathogenicity
Rhabdomyolysis, Distal arthrogryposis type 2B1, MYH3-related disorder
Health Risk
RS139544273
Conflicting classifications of pathogenicity
Distal arthrogryposis type 2B1, Freeman-Sheldon syndrome, Distal arthrogryposis type 2B1
Health Risk
RS139978727
Conflicting classifications of pathogenicity
Freeman-Sheldon syndrome, Distal arthrogryposis type 2B1, Freeman-Sheldon syndrome
Health Risk
RS140074626
Conflicting classifications of pathogenicity
Freeman-Sheldon syndrome, Distal arthrogryposis type 2B1, Freeman-Sheldon syndrome
Health Risk
All Variants (186)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1567556169 | Health Risk | Likely pathogenic | Spondylocarpotarsal synostosis syndrome, Spondylocarpotarsal synostosis syndrome |
| RS1567557697 | Health Risk | Likely pathogenic | Spondylocarpotarsal synostosis syndrome, Spondylocarpotarsal synostosis syndrome |
| RS1567559027 | Health Risk | Likely pathogenic | Arthrogryposis, distal, type 2B3 |
| RS1567559562 | Health Risk | Likely pathogenic | Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A |
| RS1567560080 | Health Risk | Likely pathogenic | Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A |
| RS1597482824 | Health Risk | Likely pathogenic | Arthrogryposis, distal, type 2B3 |
| RS1597490381 | Health Risk | Likely pathogenic | Arthrogryposis, distal, type 2B3 |
| RS2074256645 | Health Risk | Likely pathogenic | Distal arthrogryposis, Distal arthrogryposis |
| RS2074282243 | Health Risk | Likely pathogenic | — |
| RS2142381440 | Health Risk | Likely pathogenic | MYH3-related disorder, MYH3-related disorder |
| RS2142388822 | Health Risk | Likely pathogenic | MYH3-related disorder, MYH3-related disorder |
| RS2142390113 | Health Risk | Likely pathogenic | MYH3-related disorder, MYH3-related disorder |
| RS2142395080 | Health Risk | Likely pathogenic | MYH3-related disorder, MYH3-related disorder |
| RS2142398204 | Health Risk | Likely pathogenic | MYH3-related disorder, MYH3-related disorder |
| RS2142400622 | Health Risk | Likely pathogenic | — |
| RS2142404938 | Health Risk | Likely pathogenic | Arthrogryposis, distal, type 2B3 |
| RS2142407941 | Health Risk | Likely pathogenic | MYH3-related disorder, MYH3-related disorder |
| RS2142413600 | Health Risk | Likely pathogenic | Distal arthrogryposis, Distal arthrogryposis |
| RS2142413627 | Health Risk | Likely pathogenic | MYH3-related disorder, MYH3-related disorder |
| RS2142431278 | Health Risk | Likely pathogenic | — |
| RS2508577759 | Health Risk | Likely pathogenic | Spondylocarpotarsal synostosis syndrome, Spondylocarpotarsal synostosis syndrome |
| RS2508578544 | Health Risk | Likely pathogenic | MYH3-related disorder, MYH3-related disorder |
| RS2508596385 | Health Risk | Likely pathogenic | — |
| RS2508596395 | Health Risk | Likely pathogenic | Freeman-Sheldon syndrome, Freeman-Sheldon syndrome |
| RS2508601282 | Health Risk | Likely pathogenic | MYH3-related disorder, MYH3-related disorder |
| RS2508603360 | Health Risk | Likely pathogenic | — |
| RS2508605867 | Health Risk | Likely pathogenic | Freeman-Sheldon syndrome, Freeman-Sheldon syndrome |
| RS2508612985 | Health Risk | Likely pathogenic | — |
| RS2508613715 | Health Risk | Likely pathogenic | MYH3-related disorder, MYH3-related disorder |
| RS2508614011 | Health Risk | Likely pathogenic | — |
| RS2508635033 | Health Risk | Likely pathogenic | Arthrogryposis, distal, type 2B3 |
| RS2508637956 | Health Risk | Likely pathogenic | — |
| RS758147167 | Health Risk | Likely pathogenic | — |
| RS773615398 | Health Risk | Likely pathogenic | — |
| RS797045727 | Health Risk | Likely pathogenic | Freeman-Sheldon syndrome, Freeman-Sheldon syndrome |
| RS79952473 | Health Risk | Likely pathogenic | — |
| RS886042111 | Health Risk | Likely pathogenic | — |
| RS990374215 | Health Risk | Likely pathogenic | See cases, See cases |
| RS1215038260 | Health Risk | Pathogenic | — |
| RS121913617 | Health Risk | Pathogenic | Freeman-Sheldon syndrome, Contractures, pterygia |
| RS121913618 | Health Risk | Pathogenic | Freeman-Sheldon syndrome, Freeman-Sheldon syndrome |
| RS121913619 | Health Risk | Pathogenic | Freeman-Sheldon syndrome, Arthrogryposis, distal |
| RS121913620 | Health Risk | Pathogenic | Freeman-Sheldon syndrome, Freeman-Sheldon syndrome |
| RS1351684695 | Health Risk | Pathogenic | — |
| RS1377703440 | Health Risk | Pathogenic | — |
| RS143973840 | Health Risk | Pathogenic | Freeman-Sheldon syndrome, Distal arthrogryposis type 2B1, Inborn genetic diseases |
| RS1555524879 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1555526819 | Health Risk | Pathogenic | — |
| RS1567552713 | Health Risk | Pathogenic | Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A |
| RS1567555735 | Health Risk | Pathogenic | — |