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 | 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 | |
16 | 3936dupC/3936_3937incC | Val1314ArgfsX18/Val1314GlyfsX17 | Exon 30 | Caucasian, Turkish, pakistani | |
17 | 4205delTGCC | Val1402GlyfsX12 | Exon 31 | Eastern Turkey | [1] |
18 | 4241dupT | Leu1414LeufsX41 | Exon 31 | Pakistani | [2] |