STRs database » CNBP locus
Location Intron in 3q21.3
Reference region chr3:129172576-129172656 (hg38)
chr3:128891419-128891499 (hg19)
Repeat unit CCTG
Repeat type Standard
Distribution of repeats in a superpopulation
Overview of repeats

Myotonic dystrophy type 2 (DM2) is disease similar to DM1 but it is caused by tetranucleotide CCTG expansions in the intron 1 of CNBP gene (also known as ZNF9) which can even reach to 11000 copies of the repeat (Liquori et al., 2001). In most individuals the repeat tract contains (CCTG)n repeats which are interrupted by TCTG, GCTG and ACTG motifs. Uninterrupted alleles have shown to be significantly more unstable than interrupted (Bachinski et al., 2009) and instability has been correlated with the length of uninterrupted tracts. The cut-off between stable and unstable uninterrupted alleles is approximately 30 CCTG repeats (Radvanszky et al., 2013) and the premutation range is up to approximately 54 repeats (Radvanszky et al., 2013), as the smallest disease-causing allele has found to be 55 repeats of CCTG long (Bachinski et al., 2009).

→ View STRipy's population-wide repeat data for CNBP locus

Disease(s) and range of repeats
Disease Onset Inheritance Normal Intermediate Pathogenic
Myotonic dystrophy 2 (DM2) Adult Autosomal dominant ≤29 30-55 ≥55