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Gene

MYOT

myotilin

Summary

Cytogenetic location
5q31.2
Coordinates
Chromosome 5: 137,867,860–137,887,851 (GRCh38)
Exons
10 exons across 20 kb
Protein
498 amino acids
Previous symbols
TTID, LGMD1A, LGMD1
MANE Select transcript
ENST00000239926.9NM_006790.3
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated reports relevant to this gene

  • Distal Myopathies

    • Distal myopathy

      A group of inherited muscle disorders in which weakness starts in the hands, forearms, lower legs or feet, caused by genes such as TTN, DYSF, FLNC, MYH7, ADSS1, SMPX and MATR3.

      • 2 GenCC submitters rate it definitive or strong

  • Limb-Girdle Muscular Dystrophy

    • Limb-girdle Muscular Dystrophy is defined as a collection of numerous subtypes with differing inheritance patterns (with diagnostic sufficiency being varied too). Carriers of variants related to the condition should seek guidance from a muscular-skeletal specialist for a definitive diagnosis.

      • 2 GenCC submitters rate it definitive or strong

  • Myofibrillar Myopathies

    • Myofibrillar myopathy

      A group of muscle disorders in which the contractile structure of muscle fibers breaks down, caused by genes such as DES, CRYAB, MYOT, LDB3, FLNC and BAG3.

      • 2 GenCC submitters rate it definitive or strong
      What knowing changes

      Because the heart is often involved, regular heart checks (such as ECG and echocardiography) are recommended even without symptoms.

How MYOT is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 5, with a bracket where MYOT sits. MYOT and 14 genes near it on chromosome 5, from 137,377,856 to 138,377,855.Chromosome 55q31.2p15.33p15.32p15.31p15.2p15.1p14.3p14.2p14.1p13.3p13.2p13.1p12p11q11.1q11.2q12.1q12.2q12.3q13.1q13.2q13.3q14.1q14.2q14.3q15q21.1q21.2q21.3q22.1q22.2q22.3q23.1q23.2q23.3q31.1q31.2q31.3q32q33.1q33.2q33.3q34q35.1q35.2q35.3137.4 Mb137.6 Mb137.8 Mb138 Mb138.2 MbSPOCK1: 136,975,298–137,598,379, reverse strandSPOCK1KLHL3: 137,617,500–137,736,221, reverse strandKLHL3HNRNPA0: 137,745,651–137,754,363, reverse strandHNRNPA0MYOT: 137,867,860–137,887,851, forward strandMYOTPKD2L2: 137,887,968–137,942,747, forward strandPKD2L2FAM13B: 137,937,960–138,051,961, reverse strandFAM13BWNT8A: 138,083,990–138,092,365, forward strandWNT8ANME5: 138,114,412–138,139,443, reverse strandNME5BRD8: 138,139,770–138,178,988, reverse strandBRD8KIF20A: 138,178,715–138,188,171, forward strandKIF20ACDC23: 138,180,663–138,213,346, reverse strandCDC23GFRA3: 138,252,380–138,274,621, reverse strandGFRA3CDC25C: 138,285,251–138,338,355, reverse strandCDC25CFAM53C: 138,331,935–138,349,729, forward strandFAM53CKDM3B: 138,352,676–138,437,028, forward strandKDM3BDiagram of MYOT: 10 exons on the forward strand of chromosome 5Exon 2: 4 known disease-causing sitesExon 5: 1 known disease-causing siteExon 8: 1 known disease-causing siteExon 1: 137,867,860–137,867,953, 94 basesExon 2: 137,870,441–137,871,007, 567 basesExon 3: 137,875,829–137,876,003, 175 basesExon 4: 137,877,520–137,877,621, 102 basesExon 5: 137,880,816–137,880,865, 50 basesExon 6: 137,881,973–137,882,105, 133 basesExon 7: 137,883,384–137,883,591, 208 basesExon 8: 137,886,048–137,886,213, 166 basesExon 9: 137,886,864–137,886,997, 134 basesExon 10: 137,887,213–137,887,851, 639 bases123456789105′3′

Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.

Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).

Nearby genes from Ensembl release 116, on GRCh38.

Exons make up 2.3 kb of the gene's 20 kb; 1,497 of those bases code for the protein.

How a genome test reads MYOT

7

positions in MYOT where ClinVar classes a change as pathogenic or likely pathogenic

None of them falls in a region short reads find hard.

A whole genome covers all 20 kb of MYOT, introns included, not only the 2.3 kb of exons.

Where this comes from

  • HGNC: the gene's symbol, name, other symbols and location.
  • MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
  • GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
  • The ACMG secondary findings list, SF v3.2.
  • ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
  • The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
  • Data release 2026.10.16-c6eea6bf.

Cite this page

APA

Dante Labs. (n.d.). MYOT gene: myotilin. Retrieved 16 October 2026, from https://dantelabs.com/genes/myot

Vancouver

Dante Labs. MYOT gene: myotilin [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/myot

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