Table 3 Allele frequencies and worldwide distribution of the four PKHD1 mutations detected in Omani ARPKD patients
From: Clinical and genetic characteristics of autosomal recessive polycystic kidney disease in Oman
Location | Exon 3 | Exon 6 | Exon 32 | Exon 58 | |
|---|---|---|---|---|---|
Nucleotide variation | c.107C > T | c.406A > G | c.4870C > T | c.9370C > T | |
Amino acid variation | p.T36M | p.T136A | p.R1624W | p.H3124Y | |
dbSNP ID | rs137852944 | NA | rs200391019 | rs1554218666 | |
MAF | ExAC | 0.0005193 (63/121312) | not found | 0.0001812 (22/121394) | not found |
| Â | 1000 Genomes Project | 0.000199 (1/5008) | not found | not found | not found |
| Â | gnomAD (total) | 0.0005094 (144/282706) | not found | 0.0001379 (39/282816) | not found |
| Â | ESP (Exome Variant Server) | 0.00031 (4/13006) | not found | 0.00015 (2/13006) | not found |
| Â | ClinVar (global MAF) | 0.0002 | not found | NA | NA |
|  | UK 10 K | 0.00054 (4/7428) | not found | 0.00013 (1/7428) | not found |
Genomics England, 100,000G project | 16× | not found | 6× | not found | |
PKHD1 mutation database | 86× | not found | 15× | 4× | |
Origin | Â | Germany, Caucasian-American, UK, Spain, Czech Republic, Finland, Netherlands, Australia, Oman | Oman | Saudi-Arabia, Caucasian-American, Israel, Netherlands, Czech Republic, Finland-Greece, Oman | Italy, Turkey, Oman |
References | Ward et al. (2002) [14] Rossetti et al. (2003) [15] Bergmann et al. (2004) [16] Sharp et al. (2005) [17] Losekoot et al. (2005) [18] Gunay-Aygun et al. (2009) [19] Al Alawi et al. (2019) [12] | Al Alawi et al. (2019) [12] | Onuchic et al. (2002) [20] Gunay-Aygun et al. (2009) [19] Al Alawi et al. (2019) [12] | Furu et al. (2003) [21] Bergmann et al. (2004) [16] Bergmann et al. (2005) [22] Al Alawi et al. (2019) [12] | |