Table 2 Pathogenic APRT variants detected in the deCODE genetics database.
From: Allele frequency of variants reported to cause adenine phosphoribosyltransferase deficiency
No. | Position (Build 38) | Location | Base change | Amino acid change | Variant type | Alt/Ref | MAF (%) | Country of origin |
|---|---|---|---|---|---|---|---|---|
1 | 16:88810550 | Exon 3 | c.194A>T | p.(Asp65Val) | Missense | 1299/107928 | 1.2 | Iceland |
2 | 16:88811899 | Exon 1 | c.1A>C | p.(Met1?) | Nonsense | 4/107928 | 0.003706 | Iceland |
3 | 16:88810141 | Exon 4 | c.329T>C | p.(Leu110Pro) | Missense | 1/107928 | 0.000927 | Iceland |
4 | 16:88810141 | Exon 4 | c.329T>C | p.(Leu110Pro) | Missense | 5/17662 | 0.028309 | Denmark |
5 | 16:88810067 | Intron 4 | c.400+2dup | p.(Ala108Glufs*3) | Indel | 4/17662 | 0.02264749 | Denmark |
6 | 16:88811899 | Exon 1 | c.1A>C | p.(Met1?) | Nonsense | 2/17662 | 0.01132374 | Denmark |
7 | 16:88810550 | Exon 3 | c.194A>T | p.(Asp65Val) | Missense | 1/17662 | 0.00566187 | Denmark |
8 | 16:88811899 | Exon 1 | c.1A>C | p.(Met1?) | Nonsense | 1/6306 | 0.015857913 | Sweden |
9 | 16:88810550 | Exon 3 | c.194A>T | p.(Asp65Val) | Missense | 1/6306 | 0.015857913 | Sweden |
10 | 16:88809717 | Exon 5 | c.521_523del | p.(Phe174del) | Deletion | 1/6306 | 0.015857913 | Sweden |
11 | 16:88810067 | Intron 4 | c.400 + 2dup | p.(Ala108Glufs*3) | Indel | 5/2730 | 0.18315018 | Ireland |
12 | 16:88809700 | Exon 5 | c.541T>C | p.(*181Argext*?) | Stop lost | 2/2730 | 0.07326007 | Ireland |
13 | 16:88810494 | Exon 3 | c.250G>A | p.(Val84Met) | Missense | 2/5840 | 0.0342465 | Norway |
14 | 16:88809717 | Exon 5 | c.521_523del | p.(Phe174del) | Deletion | 1/5840 | 0.0171232876 | Norway |
