Sequence variations found in the AMPD1 locus
| Region | Loc | Type | % of sequence variations found | ||||||
|---|---|---|---|---|---|---|---|---|---|
| AA (n = 32) | J (n = 50) | EA (n = 48) | G (n = 20) | GMP (n = 70) | AMPDD (n = 10) | ||||
| Region, screened region; Loc, location; AA, African American; J, Japanese; EA, European American; G, German; GMP, German myopathic patients; AMPDD, German myopathic patients with AMPD mutation C34T; us, upstream region; p, promoter region; e, exon; i, intron; ds, downstream region; ins/del, insertion/deletion variation; STRP, short tandem repeat polymorphism. | |||||||||
| Up1 | us | -28130 | a/g | 12.5 | 32.3 | 37.5 | 33.6 | 100 | |
| Up1 | us | -28064 | ins/del | 10.9 | 8.3 | 14.6 | 17.5 | 16.4 | |
| Up2 | us | -1640 | t/c | 67.2 | 60.4 | 54.2 | 50.0 | 48.6 | |
| Up2 | us | -1578 | ins/del | 2.1 | |||||
| Pro4 | pro | -1150 | c/t | 1.6 | |||||
| Pro3 | pro | -532 | g/t | 4.3 | |||||
| Pro3 | pro | -469 | ins/del | 1.0 | |||||
| Pro3 | pro | -440 | c/g | 0.7 | |||||
| Pro3 | pro | -417 | a/g | 1.6 | 0.7 | ||||
| Pro2 | pro | -385 | ins/del | 1.6 | |||||
| Pro2 | pro | -376 | ins/del | 6.3 | 3.1 | 2.5 | 7.1 | ||
| Ex1 | e1 | 83 | C-2T | 1.0 | |||||
| Ex2 | e2 | 2120 | C34T (Q12X) | 4.7 | 11.5 | 7.5 | 17.9 | 100 | |
| Int2STR | i2 | 2389 | STRP 1 | ||||||
| Int2 | i2 | 2999 | a/g | 1.6 | |||||
| Int2 | i2 | 3167 | t/g | 25.0 | 33.3 | 50.0 | 56.4 | 100 | |
| Int2 | i2 | 3214 | a/t | 1.6 | |||||
| Int2 | i2 | 3233 | ins/del | 1.0 | |||||
| Ex3 | e3 | 6923 | C143T (P48L) | 4.7 | 12.5 | 5.0 | 17.1 | 100 | |
| Ex3 | i3 | 7005 | g/a | 4.7 | |||||
| Ex4 | e4 | 8665 | C237T (R79W) | 3.1 | |||||
| Int4 | i4 | 10577 | c/g | 39.6 | 13.5 | 17.5 | 10.7 | ||
| Int4 | 10684 | c/t | 59.4 | 59.4 | 43.8 | 30.0 | 39.3 | ||
| Ex6 | i5 | 15021 | t/a | 2.0 | 10.4 | 12.5 | 6.4 | ||
| Ex6 | e6 | 15211 | T681C | 1.0 | |||||
| Int6 | i6 | 15699 | c/t | 21.9 | 7.0 | 34.4 | 27.5 | 30.0 | 10 |
| Int6 | i6 | 15743 | t/c | 4.7 | 37.0 | 14.6 | 7.5 | 19.3 | 90 |
| Ex7 | e7 | 15940 | A860T (K287I) | 3.1 | 2.5 | 6.4 | |||
| Ex8 | e8 | 17061 | G930T (M310) | 0.7 | |||||
| Ex9 | i9 | 17703 | STRP 2 | ||||||
| Ex11 | e11 | 19568 | C1404T | 1.0 | |||||
| Ex15 | i14 | 21784 | t/a | 4.2 | 2.5 | 1.4 | |||
| 3′STR | ds | 27003 | STRP 3 | ||||||
| 3′Fl | ds | 27599 | t/g | 4.7 | 36.5 | 14.6 | 7.5 | 19.3 | 90 |
| 3′Fl | ds | 27798 | c/t | 1.6 | |||||