STRs database » BEAN1 locus
Gene BEAN1
Location Intron in 16q21
Reference region chr16:66490398-66490466 (hg38)
chr16:66524301-66524369 (hg19)
chr16:72284668-72284761 (hs1)
Repeat unit TGGAA
Repeat type Nested
Distribution of repeats in a superpopulation
Overview of repeats

Spinocerebellar ataxia type 31 (SCA31) is caused by an insertion of a long stretch of TGGAA repeats in intron of BEAN1 gene, which was inserted as a complex before a stretch of TAAAA as found by Sato et al. (2009). In homozygous patients, the inserted sequence was determine to have the following confirmation: [TCAC-(TGGAA)exp(TAGAA)exp(TAAAA TAGAA)exp]. In healthy controls, TGGAA repeats were not found. However, in two cases an expansion in the region was found, but which also did not include the pathogenic motif, having the following confirmation: [TCAC-(TAGAA)exp(TAAAA TAGAA)exp]. The size of the inserted sequence complex was found to be between 2.5-3.8 kb, corresponding to approximately 500 and 760 pentanucleotide repeats (Sato et al., 2009).

→ View STRipy's population-wide repeat data for BEAN1 locus

Disease(s) and range of repeats
Disease Onset Inheritance Normal Intermediate Pathogenic
Spinocerebellar ataxia 31 (SCA31) Adult Autosomal dominant 0 - ≥500