STRs database » DAB1 locus
Gene DAB1
Location Intron in 1p32.1-1p32.3
Reference region chr1:57367043-57367118 (hg38)
chr1:57832715-57832790 (hg19)
Repeat unit ATTTC
Repeat type Nested
Distribution of repeats in a superpopulation
Overview of repeats

Few studies have been conducted so far showing the pathogenic role of inserted ATTTC repeats into the intron of DAB1 gene, causing spinocerebellar ataxia type 37 (SCA37) (Corral-Juan et al., 2018; Seixas et al., 2017). Seixas et al. (2017) determined that the pathogenic repeats were always flanked on both ends by at least 58 of ATTTT repeats. The ATTTT/AAAAT repeats that are present in normal alleles was found to be in the range of 7-400 repeats (mostly under 30) in the healthy controls, but without the presence of any ATTTC repeats, which only associates the latter repeat unit with the disease. The pathogenic confirmation of repeats was determined as the following: [(ATTTT)60–79(ATTTC)31–75(ATTTT)58–90] (Seixas et al., 2017).

→ View STRipy's population-wide repeat data for DAB1 locus

Disease(s) and range of repeats
Disease Onset Inheritance Normal Intermediate Pathogenic
Spinocerebellar ataxia 37 (SCA37) Adult Autosomal dominant 0 - ≥31