STRs database » ATN1 locus

Gene	ATN1
Location	Coding in 12p13.31
Reference region	chr12:6936728-6936773 (hg38) chr12:7045891-7045936 (hg19) chr12:6947915-6947939 (hs1)
Repeat unit	CAG
Repeat type	Standard

Distribution of repeats in a superpopulation

→ View repeat distributions in gnomAD database

Overview of repeats

CAG repeat expansions in the ATN1 gene cause the dentatorubral-pallidoluysian atrophy (DRPLA) disease. Two studies have shown that in healthy individuals the repeat size varies from 7-23 repeats (Komure et al. (1995); Nagafuchi et al. (1994)). In patients, repeat size has been observed to be between 49-90 (Komure et al. (1995); Nagafuchi et al. (1994); Sugiyama et al. (2020)).

→ View STRipy's population-wide repeat data for ATN1 locus

Disease(s) and range of repeats

Disease	Onset	Inheritance	Normal	Intermediate	Pathogenic
Dentatorubral-pallidoluysian atrophy (DRPLA)	Paediatric/Adult	Autosomal dominant	7-23	-	≥49

{"AFR": {"Repeats": "3, 6, 8, 9, 10, 11, 12, 13, 14, 15, 16, 17, 18, 19, 20, 21, 23, 24", "Counts": "1, 1, 50, 122, 17, 82, 355, 393, 98, 130, 19, 9, 15, 8, 1, 3, 3, 1"}, "AMR": {"Repeats": "6, 8, 9, 10, 11, 12, 13, 14, 15, 16, 17, 18, 19, 20, 21, 23", "Counts": "3, 51, 3, 48, 13, 56, 82, 31, 279, 68, 25, 17, 6, 8, 1, 1"}, "EAS": {"Repeats": "5, 7, 8, 9, 10, 11, 12, 13, 14, 15, 16, 17, 18, 19, 20, 21, 22, 23, 24, 25", "Counts": "1, 13, 24, 9, 191, 25, 33, 31, 6, 190, 56, 167, 138, 68, 24, 8, 7, 2, 2, 1"}, "EUR": {"Repeats": "6, 8, 9, 10, 11, 12, 13, 14, 15, 16, 17, 18, 19, 20, 21, 23, 24, 26", "Counts": "1, 125, 2, 113, 7, 18, 8, 40, 368, 204, 55, 25, 12, 15, 1, 1, 1, 1"}, "SAS": {"Repeats": "6, 7, 8, 9, 10, 11, 12, 13, 14, 15, 16, 17, 18, 19, 20, 21, 22, 23, 24, 25", "Counts": "1, 5, 112, 21, 56, 2, 81, 15, 81, 287, 136, 65, 48, 24, 18, 5, 2, 5, 2, 1"}, "All": {"Repeats": "3, 5, 6, 7, 8, 9, 10, 11, 12, 13, 14, 15, 16, 17, 18, 19, 20, 21, 22, 23, 24, 25, 26", "Counts": "1, 1, 6, 18, 362, 157, 425, 129, 543, 529, 256, 1254, 483, 321, 243, 118, 66, 18, 9, 12, 6, 2, 1"}}