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Gene

DYSF

dysferlin

Summary

Cytogenetic location
2p13.2
Coordinates
Chromosome 2: 71,466,699–71,686,763 (GRCh38)
Exons
56 exons across 220.1 kb
Protein
2,119 amino acids
Also known as
FER1L1
Previous symbols
LGMD2B
MANE Select transcript
ENST00000410020.8NM_001130987.2
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.

      • 1 GenCC submitter rates 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.

      • ClinGen rates the link definitive
      • 3 GenCC submitters rate it definitive or strong

How DYSF is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
  • Variants with a page
Chromosome 2, with a bracket where DYSF sits. DYSF and 5 genes near it on chromosome 2, from 71,076,731 to 72,076,730.Chromosome 22p13.2p25.3p25.2p25.1p24.3p24.2p24.1p23.3p23.2p23.1p22.3p22.2p22.1p21p16.3p16.2p16.1p15p14p13.3p13.2p13.1p12p11.2p11.1q11.1q11.2q12.1q12.2q12.3q13q14.1q14.2q14.3q21.1q21.2q21.3q22.1q22.2q22.3q23.1q23.2q23.3q24.1q24.2q24.3q31.1q31.2q31.3q32.1q32.2q32.3q33.1q33.2q33.3q34q35q36.1q36.2q36.3q37.1q37.2q37.371.2 Mb71.4 Mb71.6 Mb71.8 Mb72 MbNAGK: 71,064,344–71,079,808, forward strandNAGKMCEE: 71,108,926–71,130,279, reverse strandMCEEMPHOSPH10: 71,130,305–71,150,101, forward strandMPHOSPH10PAIP2B: 71,181,702–71,227,112, reverse strandPAIP2BZNF638: 71,276,537–71,437,183, forward strandZNF638DYSF: 71,466,699–71,686,763, forward strandDYSFDiagram of DYSF: 56 exons on the forward strand of chromosome 2Exon 2: 7 known disease-causing sitesExon 3: 10 known disease-causing sitesExon 4: 10 known disease-causing sitesExon 5: 12 known disease-causing sitesExon 6: 1 known disease-causing siteExon 7: 20 known disease-causing sitesExon 8: 12 known disease-causing sitesExon 9: 8 known disease-causing sitesExon 10: 11 known disease-causing sitesExon 11: 1 known disease-causing siteExon 12: 17 known disease-causing sitesExon 13: 22 known disease-causing sitesExon 14: 8 known disease-causing sitesExon 15: 4 known disease-causing sitesExon 16: 6 known disease-causing sitesExon 17: 13 known disease-causing sitesExon 18: 12 known disease-causing sitesExon 19: 9 known disease-causing sitesExon 20: 17 known disease-causing sitesExon 21: 7 known disease-causing sitesExon 22: 7 known disease-causing sitesExon 23: 18 known disease-causing sitesExon 24: 13 known disease-causing sitesExon 25: 16 known disease-causing sitesExon 26: 14 known disease-causing sitesExon 27: 16 known disease-causing sitesExon 28: 13 known disease-causing sitesExon 29: 34 known disease-causing sitesExon 30: 21 known disease-causing sitesExon 31: 6 known disease-causing sitesExon 32: 12 known disease-causing sitesExon 33: 18 known disease-causing sitesExon 34: 20 known disease-causing sitesExon 36: 1 known disease-causing siteExon 37: 7 known disease-causing sitesExon 38: 14 known disease-causing sitesExon 39: 15 known disease-causing sitesExon 40: 7 known disease-causing sitesExon 42: 12 known disease-causing sitesExon 43: 13 known disease-causing sitesExon 44: 14 known disease-causing sitesExon 45: 12 known disease-causing sitesExon 46: 18 known disease-causing sitesExon 47: 26 known disease-causing sitesExon 48: 10 known disease-causing sitesExon 49: 9 known disease-causing sitesExon 50: 18 known disease-causing sitesExon 51: 22 known disease-causing sitesExon 52: 11 known disease-causing sitesExon 53: 28 known disease-causing sitesExon 54: 14 known disease-causing sitesExon 55: 10 known disease-causing sitesExon 56: 2 known disease-causing sitesExon 1: 71,466,699–71,466,933, 235 basesExon 2: 71,480,883–71,480,938, 56 bases. 2 variants with a page in exon 2. List themExon 3: 71,481,879–71,481,970, 92 bases. 1 variant with a page in exon 3. List themExon 4: 71,503,214–71,503,319, 106 bases. 3 variants with a page in exon 4. List themExon 5: 71,511,807–71,511,921, 115 basesExon 6: 71,513,240–71,513,332, 93 basesExon 7: 71,513,716–71,513,921, 206 bases. 4 variants with a page in exon 7. List themExon 8: 71,515,623–71,515,751, 129 bases. 4 variants with a page in exon 8. List themExon 9: 71,516,180–71,516,242, 63 bases. 3 variants with a page in exon 9. List themExon 10: 71,516,989–71,517,039, 51 bases. 7 variants with a page in exon 10. List themExon 11: 71,520,178–71,520,208, 31 basesExon 12: 71,520,789–71,520,904, 116 bases. 5 variants with a page in exon 12. List themExon 13: 71,526,220–71,526,346, 127 bases. 7 variants with a page in exon 13. List themExon 14: 71,528,298–71,528,401, 104 bases. 2 variants with a page in exon 14. List themExon 15: 71,535,021–71,535,089, 69 bases. 1 variant with a page in exon 15. List themExon 16: 71,535,268–71,535,311, 44 bases. 3 variants with a page in exon 16. List themExon 17: 71,539,157–71,539,239, 83 basesExon 18: 71,551,041–71,551,156, 116 bases. 2 variants with a page in exon 18. List themExon 19: 71,551,607–71,551,720, 114 bases. 3 variants with a page in exon 19. List themExon 20: 71,553,011–71,553,188, 178 bases. 5 variants with a page in exon 20. List themExon 21: 71,553,807–71,553,931, 125 bases. 1 variant with a page in exon 21. List themExon 22: 71,555,965–71,556,071, 107 bases. 2 variants with a page in exon 22. List themExon 23: 71,561,752–71,561,944, 193 bases. 2 variants with a page in exon 23. List themExon 24: 71,564,058–71,564,213, 156 bases. 2 variants with a page in exon 24. List themExon 25: 71,567,951–71,568,082, 132 bases. 1 variant with a page in exon 25. List themExon 26: 71,568,172–71,568,338, 167 bases. 3 variants with a page in exon 26. List themExon 27: 71,569,820–71,569,934, 115 bases. 2 variants with a page in exon 27. List themExon 28: 71,570,229–71,570,334, 106 bases. 2 variants with a page in exon 28. List themExon 29: 71,570,599–71,570,741, 143 bases. 11 variants with a page in exon 29. List themExon 30: 71,574,198–71,574,371, 174 bases. 2 variants with a page in exon 30. List themExon 31: 71,589,593–71,589,686, 94 bases. 1 variant with a page in exon 31. List themExon 32: 71,590,211–71,590,288, 78 bases. 6 variants with a page in exon 32. List themExon 33: 71,598,564–71,598,745, 182 bases. 1 variant with a page in exon 33. List themExon 34: 71,600,702–71,600,842, 141 bases. 4 variants with a page in exon 34. List themExon 35: 71,601,499–71,601,528, 30 basesExon 36: 71,602,776–71,602,805, 30 basesExon 37: 71,611,245–71,611,346, 102 bases. 1 variant with a page in exon 37. List themExon 38: 71,611,465–71,611,626, 162 bases. 3 variants with a page in exon 38. List themExon 39: 71,612,641–71,612,806, 166 bases. 1 variant with a page in exon 39. List themExon 40: 71,613,334–71,613,410, 77 bases. 2 variants with a page in exon 40. List themExon 41: 71,620,547–71,620,609, 63 basesExon 42: 71,643,965–71,644,063, 99 bases. 2 variants with a page in exon 42. List themExon 43: 71,656,162–71,656,290, 129 bases. 1 variant with a page in exon 43. List themExon 44: 71,658,878–71,659,033, 156 bases. 3 variants with a page in exon 44. List themExon 45: 71,660,560–71,660,651, 92 bases. 2 variants with a page in exon 45. List themExon 46: 71,664,268–71,664,438, 171 bases. 5 variants with a page in exon 46. List themExon 47: 71,665,162–71,665,304, 143 bases. 7 variants with a page in exon 47. List themExon 48: 71,667,376–71,667,515, 140 bases. 3 variants with a page in exon 48. List themExon 49: 71,668,754–71,668,842, 89 bases. 3 variants with a page in exon 49. List themExon 50: 71,669,112–71,669,207, 96 bases. 4 variants with a page in exon 50. List themExon 51: 71,669,605–71,669,746, 142 bases. 5 variants with a page in exon 51. List themExon 52: 71,674,197–71,674,296, 100 bases. 2 variants with a page in exon 52. List themExon 53: 71,679,057–71,679,235, 179 bases. 4 variants with a page in exon 53. List themExon 54: 71,681,001–71,681,110, 110 bases. 3 variants with a page in exon 54. List themExon 55: 71,682,530–71,682,677, 148 bases. 2 variants with a page in exon 55. List themExon 56: 71,686,454–71,686,763, 310 bases. 1 variant with a page in exon 56. List them11020304050565′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 6.8 kb of the gene's 220.1 kb; 6,360 of those bases code for the protein.

How a genome test reads DYSF

846

positions in DYSF 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 220.1 kb of DYSF, introns included, not only the 6.8 kb of exons.

Variants with a page (191)

The DYSF variants with a page here, most review stars first. Each page describes ClinVar's public record of the variant, never a result.

VariantHGVS c.Exon or intronPosition (GRCh38)ClinVar classificationReview status
A116Pfs*36c.345delExon 471,503,316Pathogenic3 stars out of 4 reviewed by expert panel
A945Lfs*21c.2833delExon 2671,568,304Pathogenic3 stars out of 4 reviewed by expert panel
A2105Tc.6313G>AExon 5571,682,669Pathogenic3 stars out of 4 reviewed by expert panel
c.92-1496_239+950delIntron 171,479,386Pathogenic3 stars out of 4 reviewed by expert panel
c.240-159_345+1237delIntron 371,503,054Pathogenic3 stars out of 4 reviewed by expert panel
c.460+2T>GIntron 571,511,923Pathogenic3 stars out of 4 reviewed by expert panel
c.759+1G>CIntron 771,513,922Pathogenic3 stars out of 4 reviewed by expert panel
c.888+1G>AIntron 871,515,752Likely pathogenic3 stars out of 4 reviewed by expert panel
c.991G>CExon 1071,517,028Pathogenic3 stars out of 4 reviewed by expert panel
c.1003-3C>AIntron 1071,520,175Pathogenic3 stars out of 4 reviewed by expert panel

See all 191 DYSF variants →

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.). DYSF gene: dysferlin. Retrieved 16 October 2026, from https://dantelabs.com/genes/dysf

Vancouver

Dante Labs. DYSF gene: dysferlin [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/dysf

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