MYOT Chromosome 5
Myotilin
Upload your DNA to see your personal genotypes for variants in MYOT.
What This Gene Does
This gene encodes a cystoskeletal protein which plays a significant role in the stability of thin filaments during muscle contraction. This protein binds F-actin, crosslinks actin filaments, and prevents latrunculin A-induced filament disassembly. Mutations in this gene have been associated with limb-girdle muscular dystrophy and myofibrillar myopathies. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined.[provided by RefSeq, Oct 2008]
Gene Info
Gene Group
I-set domain containing
Locus Type
gene with protein product
Location
5q31.2
Ensembl
ENSG00000120729
Associated Conditions (12)
Myofibrillar myopathy 3
Inborn genetic diseases
MYOT-related disorder
Cardiomyopathy
Heart failure
Acute myeloid leukemia
Familial cancer of breast
Progressive distal muscle weakness
Progressive proximal muscle weakness
8 conditions
Myofibrillar myopathy
Distal myopathy
Key Variants
RS114194130
Conflicting classifications of pathogenicity
Myofibrillar myopathy 3, Inborn genetic diseases, Myofibrillar myopathy 3
Health Risk
RS1173495538
Conflicting classifications of pathogenicity
Myofibrillar myopathy 3, Myofibrillar myopathy 3
Health Risk
RS1296659208
Conflicting classifications of pathogenicity
Myofibrillar myopathy 3, Myofibrillar myopathy 3
Health Risk
RS139254363
Conflicting classifications of pathogenicity
Myofibrillar myopathy 3, MYOT-related disorder, Myofibrillar myopathy 3
Health Risk
RS140678912
Conflicting classifications of pathogenicity
Myofibrillar myopathy 3, Myofibrillar myopathy 3
Health Risk
RS140755418
Conflicting classifications of pathogenicity
Myofibrillar myopathy 3, Myofibrillar myopathy 3
Health Risk
RS141710153
Conflicting classifications of pathogenicity
Myofibrillar myopathy 3, Inborn genetic diseases, Myofibrillar myopathy 3
Health Risk
RS141801816
Conflicting classifications of pathogenicity
Myofibrillar myopathy 3, Cardiomyopathy, Inborn genetic diseases
Health Risk
RS142416150
Conflicting classifications of pathogenicity
Heart failure, Myofibrillar myopathy 3, Inborn genetic diseases
Health Risk
RS144731446
Conflicting classifications of pathogenicity
Myofibrillar myopathy 3, Acute myeloid leukemia, Familial cancer of breast
Health Risk
RS145427063
Conflicting classifications of pathogenicity
Myofibrillar myopathy 3, Myofibrillar myopathy 3, Inborn genetic diseases
Health Risk
RS147891371
Conflicting classifications of pathogenicity
Myofibrillar myopathy 3, Myofibrillar myopathy 3
Health Risk
All Variants (43)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS114194130 | Health Risk | Conflicting classifications of pathogenicity | Myofibrillar myopathy 3, Inborn genetic diseases, Myofibrillar myopathy 3 |
| RS1173495538 | Health Risk | Conflicting classifications of pathogenicity | Myofibrillar myopathy 3, Myofibrillar myopathy 3 |
| RS1296659208 | Health Risk | Conflicting classifications of pathogenicity | Myofibrillar myopathy 3, Myofibrillar myopathy 3 |
| RS139254363 | Health Risk | Conflicting classifications of pathogenicity | Myofibrillar myopathy 3, MYOT-related disorder, Myofibrillar myopathy 3 |
| RS140678912 | Health Risk | Conflicting classifications of pathogenicity | Myofibrillar myopathy 3, Myofibrillar myopathy 3 |
| RS140755418 | Health Risk | Conflicting classifications of pathogenicity | Myofibrillar myopathy 3, Myofibrillar myopathy 3 |
| RS141710153 | Health Risk | Conflicting classifications of pathogenicity | Myofibrillar myopathy 3, Inborn genetic diseases, Myofibrillar myopathy 3 |
| RS141801816 | Health Risk | Conflicting classifications of pathogenicity | Myofibrillar myopathy 3, Cardiomyopathy, Inborn genetic diseases |
| RS142416150 | Health Risk | Conflicting classifications of pathogenicity | Heart failure, Myofibrillar myopathy 3, Inborn genetic diseases |
| RS144731446 | Health Risk | Conflicting classifications of pathogenicity | Myofibrillar myopathy 3, Acute myeloid leukemia, Familial cancer of breast |
| RS145427063 | Health Risk | Conflicting classifications of pathogenicity | Myofibrillar myopathy 3, Myofibrillar myopathy 3, Inborn genetic diseases |
| RS147891371 | Health Risk | Conflicting classifications of pathogenicity | Myofibrillar myopathy 3, Myofibrillar myopathy 3 |
| RS150033934 | Health Risk | Conflicting classifications of pathogenicity | Myofibrillar myopathy 3, Myofibrillar myopathy 3 |
| RS150293853 | Health Risk | Conflicting classifications of pathogenicity | Myofibrillar myopathy 3, Inborn genetic diseases, MYOT-related disorder |
| RS150786535 | Health Risk | Conflicting classifications of pathogenicity | Myofibrillar myopathy 3, Myofibrillar myopathy 3 |
| RS1554103923 | Health Risk | Conflicting classifications of pathogenicity | Myofibrillar myopathy 3, Myofibrillar myopathy 3 |
| RS199541037 | Health Risk | Conflicting classifications of pathogenicity | Myofibrillar myopathy 3, Myofibrillar myopathy 3 |
| RS202139846 | Health Risk | Conflicting classifications of pathogenicity | Myofibrillar myopathy 3, Myofibrillar myopathy 3 |
| RS34593399 | Health Risk | Conflicting classifications of pathogenicity | Myofibrillar myopathy 3, Myofibrillar myopathy 3 |
| RS368052792 | Health Risk | Conflicting classifications of pathogenicity | Myofibrillar myopathy 3, Myofibrillar myopathy 3 |
| RS372287923 | Health Risk | Conflicting classifications of pathogenicity | Myofibrillar myopathy 3, Myofibrillar myopathy 3 |
| RS377759571 | Health Risk | Conflicting classifications of pathogenicity | Myofibrillar myopathy 3, Myofibrillar myopathy 3 |
| RS387906882 | Health Risk | Conflicting classifications of pathogenicity | Myofibrillar myopathy 3, Myofibrillar myopathy 3 |
| RS545828785 | Health Risk | Conflicting classifications of pathogenicity | Myofibrillar myopathy 3, Myofibrillar myopathy 3 |
| RS727504026 | Health Risk | Conflicting classifications of pathogenicity | Myofibrillar myopathy 3, Inborn genetic diseases, Myofibrillar myopathy 3 |
| RS747319274 | Health Risk | Conflicting classifications of pathogenicity | Myofibrillar myopathy 3, Myofibrillar myopathy 3 |
| RS747546314 | Health Risk | Conflicting classifications of pathogenicity | Myofibrillar myopathy 3, Myofibrillar myopathy 3 |
| RS747808820 | Health Risk | Conflicting classifications of pathogenicity | Myofibrillar myopathy 3, Myofibrillar myopathy 3 |
| RS758512747 | Health Risk | Conflicting classifications of pathogenicity | Myofibrillar myopathy 3, Myofibrillar myopathy 3 |
| RS760217241 | Health Risk | Conflicting classifications of pathogenicity | Myofibrillar myopathy 3, Myofibrillar myopathy 3 |
| RS769506328 | Health Risk | Conflicting classifications of pathogenicity | Myofibrillar myopathy 3, MYOT-related disorder, Myofibrillar myopathy 3 |
| RS773200756 | Health Risk | Conflicting classifications of pathogenicity | Myofibrillar myopathy 3, Myofibrillar myopathy 3 |
| RS779568205 | Health Risk | Conflicting classifications of pathogenicity | Myofibrillar myopathy 3, Heart failure, Inborn genetic diseases |
| RS78633961 | Health Risk | Conflicting classifications of pathogenicity | Myofibrillar myopathy 3, Inborn genetic diseases, Myofibrillar myopathy 3 |
| RS886043262 | Health Risk | Conflicting classifications of pathogenicity | Myofibrillar myopathy 3, Myofibrillar myopathy 3 |
| RS886044687 | Health Risk | Conflicting classifications of pathogenicity | Myofibrillar myopathy 3, Myofibrillar myopathy 3 |
| RS886059968 | Health Risk | Conflicting classifications of pathogenicity | Myofibrillar myopathy 3, Myofibrillar myopathy 3 |
| RS946857518 | Health Risk | Conflicting classifications of pathogenicity | Myofibrillar myopathy 3, Myofibrillar myopathy 3 |
| RS1755403182 | Health Risk | Likely pathogenic | Myofibrillar myopathy 3, Myofibrillar myopathy 3 |
| RS28937597 | Health Risk | Pathogenic | Myofibrillar myopathy 3, Myofibrillar myopathy 3 |
| RS121908457 | Health Risk | Pathogenic/Likely pathogenic | Progressive distal muscle weakness, Progressive proximal muscle weakness, 8 conditions |
| RS121908458 | Health Risk | Pathogenic/Likely pathogenic | Myofibrillar myopathy 3, Myofibrillar myopathy, Distal myopathy |
| RS121908461 | Health Risk | Pathogenic/Likely pathogenic | Myofibrillar myopathy 3, Myofibrillar myopathy 3 |