MYOM1 Chromosome 18
Myomesin 1
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What This Gene Does
The giant protein titin, together with its associated proteins, interconnects the major structure of sarcomeres, the M bands and Z discs. The C-terminal end of the titin string extends into the M line, where it binds tightly to M-band constituents of apparent molecular masses of 190 kD (myomesin 1) and 165 kD (myomesin 2). This protein, myomesin 1, like myomesin 2, titin, and other myofibrillar proteins contains structural modules with strong homology to either fibronectin type III (motif I) or immunoglobulin C2 (motif II) domains. Myomesin 1 and myomesin 2 each have a unique N-terminal region followed by 12 modules of motif I or motif II, in the arrangement II-II-I-I-I-I-I-II-II-II-II-II. The two proteins share 50% sequence identity in this repeat-containing region. The head structure formed by these 2 proteins on one end of the titin string extends into the center of the M band. The integrating structure of the sarcomere arises from muscle-specific members of the superfamily of immunoglobulin-like proteins. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"I-set domain containing|Myosin binding proteins"
Locus Type
gene with protein product
Location
18p11.31
Ensembl
ENSG00000101605
Associated Conditions (7)
Hypertrophic cardiomyopathy
MYOM1-related disorder
Abnormality of the liver
Hypoglycemia
Cardiovascular phenotype
Non-immune hydrops fetalis
Sudden cardiac death
Key Variants
RS1367426610
Conflicting classifications of pathogenicity
Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
Health Risk
RS138392588
Conflicting classifications of pathogenicity
Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
Health Risk
RS140845661
Conflicting classifications of pathogenicity
Hypertrophic cardiomyopathy, MYOM1-related disorder, Hypertrophic cardiomyopathy
Health Risk
RS147050513
Conflicting classifications of pathogenicity
Hypertrophic cardiomyopathy, MYOM1-related disorder, Hypertrophic cardiomyopathy
Health Risk
RS186972208
Conflicting classifications of pathogenicity
Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
Health Risk
RS188319622
Conflicting classifications of pathogenicity
Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
Health Risk
RS199531701
Conflicting classifications of pathogenicity
Hypertrophic cardiomyopathy, MYOM1-related disorder, Hypertrophic cardiomyopathy
Health Risk
RS199610460
Conflicting classifications of pathogenicity
Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
Health Risk
RS200153557
Conflicting classifications of pathogenicity
Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
Health Risk
RS200179081
Conflicting classifications of pathogenicity
Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
Health Risk
RS200374196
Conflicting classifications of pathogenicity
Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
Health Risk
RS200480164
Conflicting classifications of pathogenicity
Hypertrophic cardiomyopathy, MYOM1-related disorder, Hypertrophic cardiomyopathy
Health Risk
All Variants (44)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1367426610 | Health Risk | Conflicting classifications of pathogenicity | Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy |
| RS138392588 | Health Risk | Conflicting classifications of pathogenicity | Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy |
| RS140845661 | Health Risk | Conflicting classifications of pathogenicity | Hypertrophic cardiomyopathy, MYOM1-related disorder, Hypertrophic cardiomyopathy |
| RS147050513 | Health Risk | Conflicting classifications of pathogenicity | Hypertrophic cardiomyopathy, MYOM1-related disorder, Hypertrophic cardiomyopathy |
| RS186972208 | Health Risk | Conflicting classifications of pathogenicity | Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy |
| RS188319622 | Health Risk | Conflicting classifications of pathogenicity | Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy |
| RS199531701 | Health Risk | Conflicting classifications of pathogenicity | Hypertrophic cardiomyopathy, MYOM1-related disorder, Hypertrophic cardiomyopathy |
| RS199610460 | Health Risk | Conflicting classifications of pathogenicity | Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy |
| RS200153557 | Health Risk | Conflicting classifications of pathogenicity | Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy |
| RS200179081 | Health Risk | Conflicting classifications of pathogenicity | Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy |
| RS200374196 | Health Risk | Conflicting classifications of pathogenicity | Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy |
| RS200480164 | Health Risk | Conflicting classifications of pathogenicity | Hypertrophic cardiomyopathy, MYOM1-related disorder, Hypertrophic cardiomyopathy |
| RS200710899 | Health Risk | Conflicting classifications of pathogenicity | Hypertrophic cardiomyopathy, MYOM1-related disorder, Hypertrophic cardiomyopathy |
| RS200773357 | Health Risk | Conflicting classifications of pathogenicity | Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy |
| RS201544310 | Health Risk | Conflicting classifications of pathogenicity | Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy |
| RS367903122 | Health Risk | Conflicting classifications of pathogenicity | Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy |
| RS370063864 | Health Risk | Conflicting classifications of pathogenicity | Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy |
| RS371239754 | Health Risk | Conflicting classifications of pathogenicity | Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy |
| RS371754365 | Health Risk | Conflicting classifications of pathogenicity | Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy |
| RS374540941 | Health Risk | Conflicting classifications of pathogenicity | Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy |
| RS374670754 | Health Risk | Conflicting classifications of pathogenicity | Abnormality of the liver, Hypoglycemia, Hypertrophic cardiomyopathy |
| RS375155656 | Health Risk | Conflicting classifications of pathogenicity | Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy |
| RS537504476 | Health Risk | Conflicting classifications of pathogenicity | Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy |
| RS543434883 | Health Risk | Conflicting classifications of pathogenicity | Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy |
| RS546136269 | Health Risk | Conflicting classifications of pathogenicity | Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy |
| RS548278691 | Health Risk | Conflicting classifications of pathogenicity | Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy |
| RS552115876 | Health Risk | Conflicting classifications of pathogenicity | Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy |
| RS557671408 | Health Risk | Conflicting classifications of pathogenicity | Hypertrophic cardiomyopathy, Cardiovascular phenotype, Hypertrophic cardiomyopathy |
| RS561012778 | Health Risk | Conflicting classifications of pathogenicity | Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy |
| RS748819463 | Health Risk | Conflicting classifications of pathogenicity | Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy |
| RS749346618 | Health Risk | Conflicting classifications of pathogenicity | Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy |
| RS751200138 | Health Risk | Conflicting classifications of pathogenicity | Non-immune hydrops fetalis, Hypertrophic cardiomyopathy, Non-immune hydrops fetalis |
| RS755409090 | Health Risk | Conflicting classifications of pathogenicity | Sudden cardiac death, Hypertrophic cardiomyopathy, Sudden cardiac death |
| RS756788476 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Hypertrophic cardiomyopathy, Cardiovascular phenotype |
| RS756917060 | Health Risk | Conflicting classifications of pathogenicity | Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy |
| RS762212739 | Health Risk | Conflicting classifications of pathogenicity | Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy |
| RS763659581 | Health Risk | Conflicting classifications of pathogenicity | Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy |
| RS764839969 | Health Risk | Conflicting classifications of pathogenicity | Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy |
| RS765548922 | Health Risk | Conflicting classifications of pathogenicity | Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy |
| RS767192545 | Health Risk | Conflicting classifications of pathogenicity | Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy |
| RS771666952 | Health Risk | Conflicting classifications of pathogenicity | Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy |
| RS777270890 | Health Risk | Conflicting classifications of pathogenicity | Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy |
| RS777908113 | Health Risk | Conflicting classifications of pathogenicity | Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy |
| RS780903555 | Health Risk | Conflicting classifications of pathogenicity | Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy |