Table 1 Mutations in GIGYF2 are linked to autism spectrum disorder
GIGYF2 chromosome location | Genomic mutation | Amino acid change | Mutation type | Inheritance pattern | References |
|---|---|---|---|---|---|
2:233612356 | A to G | Thr25Ala | Missense | Maternal | Wang et al. 2016, Nat Commun |
2:233612356 | A to G | Thr25Ala | Missense | Paternal | Wang et al. 2016, Nat Commun |
2:233612456 | T to C | None | Splice donor | N.D | Wang et al. 2016, Nat Commun |
2:233613755 | C to T | Pro77Leu | Missense | Maternal | Wang et al. 2016, Nat Commun |
2:233651280—233673273 | Deletion | Unknown | Intron deletion | De novo | Gazzellone et al. 2014, J Neurodev Disord |
2:233655527 | A to G | Ile300Val | Missense | Maternal | Wang et al. 2016, Nat Commun |
2:233655527 | A to G | Ile300Val | Missense | Paternal | Wang et al. 2016, Nat Commun |
2:233655615 | T to G | Leu329Arg | Missense | Maternal | Wang et al. 2016, Nat Commun |
2:233655745 | G to T | Glu320Ter | Nonsense | De novo | Wang et al. 2016, Nat Commun |
2:233656136 | A to G | Lys442Arg | Missense | Maternal | Wang et al. 2016, Nat Commun |
2:233656136 | A to G | Lys442Arg | Missense | Paternal | Wang et al. 2016, Nat Commun |
2:233659563 | G to A | Arg484Gln | Missense | Paternal | Wang et al. 2016, Nat Commun |
2:233671257 | T to G | Ser587Ala | Missense | Maternal | Wang et al. 2016, Nat Commun |
2:233671353 | C to T | Pro619Ser | Missense | Maternal | Wang et al. 2016, Nat Commun |
2:233675964 | G to A | Ala658Thr | Missense | De novo | Wang et al. 2016, Nat Commun |
2:233675982 | C to T | Gln664Ter | Nonsense | De novo | Iossifov et al. 2014, Nature |
Lim et al. 2017, Nat Neurosci | |||||
An et al. 2018, Science | |||||
2:233677147 | G to A | Val706Ile | Missense | Paternal | Wang et al. 2016, Nat Commun |
2:233684582 | C to T | Arg827Ter | Nonsense | De novo | Lim et al. 2017, Nat Neurosci |
2:233704609 | G to C | Gln960His | Missense | Maternal | Wang et al. 2016, Nat Commun |
2:233704659 | G to A | Arg977Gln | Missense | De novo | De Rubeis et al. 2014, Nature |
Wang et al. 2016, Nat Commun | |||||
Lim et al. 2017, Nat Neurosci | |||||
2:233709081 – 233709092 | Deletion | Ser1035—His1038 | Exon deletion | N.D | Wang et al. 2016, Nat Commun |
2:233712060 | C to A | Pro1176Thr | Missense | Maternal | Wang et al. 2016, Nat Commun |
2:233712,061 | C to G | Pro1176Arg | Missense | De novo | Krumm et al. 2015, Nat Genet |
An et al. 2018, Science | |||||
2:233721568 | T to G | Ter to Gly | Stop lost | N.D | Wang et al. 2016, Nat Commun |
2:233721568 | T to A | Ter to Arg | Stop lost | N.D | Wang et al. 2016, Nat Commun |