Row | Variant | SNP ID | Exon/Intron | Allele frequency (%), ethnicity | Row | Variant | SNP ID | Exon/ Intron | Allele frequency (%) |
---|---|---|---|---|---|---|---|---|---|
A: Variants reported among Iranian patients with PTPS deficiency (based on Khatami et al., 2017 and Khani et al., 2021 studies). †:also reported in the Iranome project, ‡: first reported from Iran, NR: not reported | |||||||||
1 | c.155A>G (p.Asn52Ser) | rs104894275 | E-2 | 12 (10.00), Persian | 11 | c.412A>C (p.Asn138His) | rs1329239489 | E-6 | 2 (1.67), NR |
2 | c.317C>T (p.Thr106Met) | rs200712908 | E-6 | 12 (10.00), Persian, Azeri | 12 | c.293C>T (p.Pro98Leu) | rs748040027 | E-5 | 2 (1.67), NR |
3 | c.84-3C>G | rs1230781262 | I-1 | 9 (7.50), Persian, Kurd | 13 | c.70C>G (p.His24Asp)‡ | NR | E-1 | 2 (1.67), NR |
4 | c.281A>T (p.Asp94Val)‡ | NR | E-5 | 6 (5.00), Kurd | 14 | c.407A>T (p.Asp136Val) | NR | E-6 | 2 (1.67), NR |
5 | c.331G>A (p.Ala111Thr) | rs1367077861 | E-6 | 4 (3.33), Azeri | 15 | c.164-36A>G‡ | NR | I-2 | 2 (1.67), Arab |
6 | c.351C>A (p.Asn117Lys)‡ | NR | E-6 | 4 (3.33), Afghan | 16 | c.297C>A (p.Tyr99Ter) | rs145882709 | E-5 | 1 (0.83), Persian |
7 | c.400G>A (p.Glu134Lys)‡ | rs779681799 | E-6 | 2 (1.67), Azeri | 17 | c.163+2T>C‡ | NR | I-2 | 1 (0.83), Persian |
8 | c.259C>T (p.Pro87Ser) | rs104894276 | E-5 | 2 (1.67), Persian | 18 | c.200C>T (p.Thr67Met) | rs370340361 | E-4 | 1 (0.83), NR |
9 | c.286G>A (p.Asp96Asn) | rs104894280 | E-5 | 2 (1.67), NR | 19 | c.373G>A (p.Gly125Arg)† | NR | E-6 | 1 (0.83), NR |
10 | c.367C>T (p.Pro123Ser) | rs141163668 | E-6 | 2 (1.67), NR | |||||
Detected mutated alleles | 69 (57.5) | ||||||||
Total alleles | 120 (100.00) | ||||||||
B: Variants reported among Iranian healthy individuals (based on the Iranome preoject). ‡: first reported from Iran, NR: not reported, PGI: Persian Gulf Islander | |||||||||
20 | c.163+14T>C | rs3819331 | I-2 | 255:1600 (0.1594), Multiple | 38 | c.243+136A>G‡ | NR | I-4 | 2:1588 (0.001259), Persian |
21 | c.84-7del | rs752347328 | I-1 | 101:1464 (0.06899), Multiple | 39 | c.84-97_84-96del | rs137920358 | I-1 | 1:1146 (0.000873), Arab |
22 | c.243+154C>T | rs111330439 | I-4 | 51:1520 (0.03355), Multiple | 40 | c.315-94C>T | rs969821728 | I-5 | 1:1534 (0.000652), Kurd |
23 | c.84-7dup | rs368800549 | I-1 | 24:1387 (0.0173), Multiple | 41 | c.318G>A (p.Thr106=) | rs568878711 | E-6 | 1:1584 (0.000631), Baloch |
24 | c.84-6G>T | rs778736284 | I-1 | 19:1334 (0.01424), Multiple | 42 | c.243+119G>A‡ | NR | I-4 | 1:1596 (0.000627), Azeri |
25 | c.243+94T>A | rs76465815 | I-4 | 21:1600 (0.01312), Multiple | 43 | c.*16T>C | rs760097954 | 3´UTR | 1:1600 (0.000625), Arab |
26 | c.405T>C (p.Thr135=) | rs59731976 | E-6 | 20:1598 (0.01252), Multiple | 44 | c.-19C>T | rs1307475547 | 5´UTR | 1:1600 (0.000625), Persian |
27 | c.186+184dup | rs530214261 | I-3 | 14:1600 (0.00875), Multiple | 45 | c.163+92C>T‡ | NR | I-2 | 1:1600 (0.000625), Azeri |
28 | c.84-5G>T | rs61900919 | I-1 | 11:1336 (0.008234), Multiple | 46 | c.164-92C>G‡ | NR | I-2 | 1:1600 (0.000625), Baloch |
29 | c.243+11G>A | rs377396089 | I-4 | 9:1600 (0.005625), Multiple | 47 | c.164-1G>C | NR | I-2 | 1:1600 (0.000625), Arab |
30 | c.84-3C>T | rs1230781262 | I-1 | 8:1526 (0.005242), Multiple | 48 | c.186+122T>C | rs1322225548 | I-3 | 1:1600 (0.000625), Arab |
31 | c.187-81A>G | rs74585386 | I-3 | 5:1600 (0.003125), Multiple | 49 | c.186+132G>T‡ | NR | I-3 | 1:1600 (0.000625), Azeri |
32 | c.164-97T>C | rs12291603 | I-2 | 5:1600 (0.003125), PGI, Azeri | 50 | c.186+166A>G | rs899692941 | I-3 | 1:1600 (0.000625), Lur |
33 | c.83+84A>T | rs12291869 | I-1 | 3:1564 (0.001918), PGI, Azeri | 51 | c.187-52G>A | rs116660982 | I-3 | 1:1600 (0.000625), Persian |
34 | c.312G>A (p.Val104=) | rs148185068 | E-5 | 3:1600 (0.001875), Multiple | 52 | c.243+97C>T | rs1027779552 | I-4 | 1:1600 (0.000625), Baloch |
35 | c.186+169G>C | rs545888598 | I-3 | 3:1600 (0.001875), PGI, Lur | 53 | c.314+20G>A | rs566427241 | I-5 | 1:1600 (0.000625), Arab |
36 | c.163+136G>T‡ | NR | I-2 | 3:1600 (0.001875), Kurd, Lur | 54 | c.420G>T (p.Val140=) | rs146364246 | E-6 | 1:1600 (0.000625), PGI |
37 | c.315-1G>A | rs776543880 | I-5 | 2:1574 (0.001271), PGI |