STRs database » AFF2 locus
Gene AFF2
Location 5′ UTR in Xq28
Reference region chrX:148500638-148500683 (hg38)
chrX:147582158-147582203 (hg19)
chrX:146765224-146765272 (hs1)
Repeat unit CCG
Repeat type Standard
Distribution of repeats in a superpopulation
Overview of repeats

FRAXE mental retardation (FRAXE) is caused by CCG repeats in the AFF2 gene (also known as the FMR2 gene). Knight et al. (1993) found that in all male patients at least 200 repeats were present. Also, carrier females with over 200 repeats could have mental impairment. Repeat range in the control group was between 6 and 25 repeats (Knight et al., 1993).

→ View STRipy's population-wide repeat data for AFF2 locus

Disease(s) and range of repeats
Disease Onset Inheritance Normal Intermediate Pathogenic
FRAXE mental retardation (FRAXE) Paediatric X-linked recessive 6-25 - ≥200