STRipy - STRs database (AFF2 locus)

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

→ View repeat distributions in gnomAD database

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

{"AFR": {"Repeats": "6, 7, 9, 10, 11, 12, 13, 14, 15, 16, 17, 18, 19, 20, 21, 22, 23, 24, 25, 26, 27, 29, 30, 31, 32, 33, 35", "Counts": "1, 11, 8, 3, 6, 13, 51, 24, 474, 200, 167, 82, 16, 24, 27, 22, 21, 21, 19, 9, 1, 3, 1, 2, 1, 1, 1"}, "AMR": {"Repeats": "7, 10, 12, 13, 14, 15, 16, 17, 18, 19, 20, 21, 22, 23, 24, 25, 26, 27, 28, 30, 32", "Counts": "2, 2, 1, 4, 8, 156, 42, 37, 101, 94, 89, 28, 13, 15, 9, 5, 2, 1, 3, 2, 2"}, "EAS": {"Repeats": "4, 7, 9, 10, 11, 12, 13, 14, 15, 16, 17, 18, 19, 20, 21, 22, 23, 24, 25, 26, 28, 29, 30, 31", "Counts": "2, 2, 3, 67, 24, 4, 11, 25, 10, 48, 154, 306, 77, 92, 28, 20, 16, 6, 2, 6, 1, 3, 3, 1"}, "EUR": {"Repeats": "4, 6, 7, 9, 10, 11, 12, 13, 14, 15, 16, 17, 18, 19, 20, 21, 22, 23, 24, 25, 26, 27, 28, 30, 36", "Counts": "2, 1, 2, 1, 3, 1, 20, 13, 25, 349, 113, 59, 128, 59, 32, 22, 14, 14, 22, 10, 3, 9, 5, 1, 1"}, "SAS": {"Repeats": "6, 11, 12, 13, 14, 15, 16, 17, 18, 19, 20, 21, 22, 23, 24, 25, 26, 27", "Counts": "1, 9, 13, 18, 13, 306, 76, 59, 235, 75, 17, 17, 7, 22, 4, 1, 9, 3"}, "All": {"Repeats": "4, 6, 7, 9, 10, 11, 12, 13, 14, 15, 16, 17, 18, 19, 20, 21, 22, 23, 24, 25, 26, 27, 28, 29, 30, 31, 32, 33, 35, 36", "Counts": "4, 3, 17, 12, 75, 40, 51, 97, 95, 1295, 479, 476, 852, 321, 254, 122, 76, 88, 62, 37, 29, 14, 9, 6, 7, 3, 3, 1, 1, 1"}}