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Table 1 PTS gene variants reported among Iranian population

From: In silico analysis and the pathogenicity classification of PTS gene variants among Iranian population

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