Table 1 Summary of variations in ASD patients carrying MECP2 mutations
From: Identification of autism-related MECP2 mutations by whole-exome sequencing and functional validation
Patient ID | Sex | Gene | Chrom | Position (Hg19) | Nucleotide | Amino acid | 1000G | dbSNP137 | Transmission |
|---|---|---|---|---|---|---|---|---|---|
138 | F | MECP2 | ChrX | 153,296,824 | c.455C>T | p.P152L | _ | _ | De novo |
| Â | Â | NRXN1 | Chr2 | 50,280,477 | c.4180A>T | p.T1394S | 0.00079 | rs202006815 | Father |
| Â | Â | CACNA1C | Chr12 | 2,789,681 | c.5564G>A | p.C1855Y | _ | _ | Father |
548 | M | MECP2 | ChrX | 153,296,153 | c.1162C>T | p.P376S | 0.00026 | rs61752387 | Mother |
| Â | Â | CNTNAP2 | Chr7 | 146,536,803 | c.209G>C | p.G70A | _ | _ | Father |
660 | F | MECP2 | ChrX | 153,296,399 | c.880C>T | p.R294X | _ | rs61751362 | De novo |