Table 1 The frequency of the three most common pathogenic APRT variants among all identified cases worldwide and in population genomic databases.
From: Allele frequency of variants reported to cause adenine phosphoribosyltransferase deficiency
Identified cases | Genomic databases | ||||
|---|---|---|---|---|---|
Homozygotes | Compound heterozygotes | Allele count | Allele number | Allele frequency (%) | |
c.407T>C (p.(Met136Thr)) | |||||
Japan | 89 | 44 | |||
Japan (HGVD) | 3 | 2326 | 0.13 | ||
USA | 1 | ||||
Korea (KOVA) | 1 | 1898 | 0.05 | ||
gnomAD | |||||
African | 0 | 16,760 | 0.000 | ||
Ashkenazi Jewish | 0 | 9956 | 0.000 | ||
East Asian | 1 | 18,360 | 0.005447 | ||
European (Finnish) | 0 | 20,398 | 0.000 | ||
European (Non-Finnish) | 0 | 112,090 | 0.000 | ||
Latino | 0 | 34,518 | 0.000 | ||
Other | 0 | 6066 | 0.000 | ||
South Asian | 0 | 30,590 | 0.000 | ||
c.194A>T (p.(Asp65Val)) | |||||
Iceland | 37 | ||||
Iceland (deCODE) | 1299 | 107,928 | 1.2 | ||
Sweden (deCODE) | 1 | 6306 | 0.016 | ||
Denmark (deCODE) | 1 | 17,662 | 0.006 | ||
UK | 1 | ||||
UK (100,000 Genomes Project) | 1 | 127,474 | 0.0008 | ||
Spain | 1 | ||||
France | 1 | ||||
Australia | 1 | ||||
gnomAD | |||||
African | 0 | 24,072 | 0.000 | ||
Ashkenazi Jewish | 0 | 10,156 | 0.000 | ||
East Asian | 0 | 19,736 | 0.000 | ||
European (Finnish) | 0 | 24,188 | 0.000 | ||
European (Non-Finnish) | 1 | 124,598 | 0.0008026 | ||
Estonian | 1 | 4768 | 0.02097 | ||
Latino | 0 | 35,102 | 0.000 | ||
Other | 0 | 7032 | 0.000 | ||
South Asian | 0 | 30,262 | 0.000 | ||
c.400 + 2dup (p.(Ala108Glufs*3)) | |||||
Europe | 13 | 23 | |||
UK (Biobank) | 22 | 1,000,000 | 0.022 | ||
UK (100,000 Genomes Project) | 4 | 127,474 | 0.003 | ||
Ireland (deCODE) | 5 | 2730 | 0.18315018 | ||
Denmark (deCODE) | 4 | 17,662 | 0.02264749 | ||
USA | 6 | ||||
Australia | 1 | ||||
Unknown | 1 | ||||
gnomAD | |||||
African | 1 | 24,940 | 0.004010 | ||
Ashkenazi Jewish | 0 | 10,350 | 0.000 | ||
East Asian | 0 | 19,942 | 0.000 | ||
European (Finnish) | 0 | 24,890 | 0.000 | ||
European (Non-Finnish) | 27 | 128,838 | 0.02096 | ||
South European | 5 | 11,592 | 0.04313 | ||
Other non-Finnish European | 10 | 32,948 | 0.03035 | ||
North-West European | 11 | 50,708 | 0.02169 | ||
Swedish | 1 | 26,100 | 0.003831 | ||
Latino | 1 | 35,430 | 0.002822 | ||
Other | 0 | 7280 | 0.000 | ||
South Asian | 1 | 30,614 | 0.003266 | ||
