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Table 1 Pathogenic sequence variants in WDR62 gene reported to date in families mapped to MCPH2

From: Mutations in WDR62 gene in Pakistani families with autosomal recessive primary microcephaly

S.No

Nucleotide change

Amino acid change

Location

Ethnic group

Ref paper

1

193 G>A

Val65Met

Exon 2

Arab

[2, 3]

2

363delT

Asp112MetfsX5

Exon 4

Mexican

[3]

3

535_536insA

Met179fsX21

Exon 5

Indian

[4]

4

671 G>C

Trp224Ser

Exon 6

-

[1]

5

c.900C>A

Cys300X

Exon 8

Indian

[4]

6

1043+1 G>A

Ser348RfsX63

Intron 8

Turkish

[3]

7

1313 G>A

Arg438His

Exon 10

Pakistani

[2], This study

8

1408C>T

Gln470X

Exon 11

-

[1]

9

1531 G>A

Asp511Asn

Exon 11

Pakistani

[2], This study

10

1576 G>T

Glu526X

Exon 12

-

[1]

11

1576 G>A

Glu526Lys

Exon 12

-

[1]

12

1942 C>T

Gln648X

Exon 15

Pakistani

This study

13

2867+4_c2867+7delGGTG

Ser956CysfsX38

Intron 23

Turkish

[3]

14

3232 G>A

Ala1078Thr

Exon 27

Pakistani

[2]

15

3839_3855delGCCAAGAGCCTGCCCTG

Gly1280AlafsX21

Exon 30

Turkish

[1, 3]

16

3936dupC/3936_3937incC

Val1314ArgfsX18/Val1314GlyfsX17

Exon 30

Caucasian,

Turkish,

pakistani

[2, 3] This study

17

4205delTGCC

Val1402GlyfsX12

Exon 31

Eastern Turkey

[1]

18

4241dupT

Leu1414LeufsX41

Exon 31

Pakistani

[2]