New SLC3A1 and SLC7A9 mutations
| Type | Nucleotide change | Amino acid change/ predicted consequence | Exon or intron | Detection method |
|---|---|---|---|---|
| In addition to the 40 listed new mutations, a deletion of the 3′ end of SLC3A1 has been identified in one chromosome of one patient, but the limits of this deletion have not been studied. | ||||
| When RT-PCR is indicated in the detection method, the effect of the mutation has been determined at the mRNA. | ||||
| *These two mutations are located in the same chromosome. | ||||
| †Mutation eliminates an SF2/ASF exonic splicing enhancer motif. | ||||
| ‡Mutation may create an alternative donor splice site 64 bp upstream of the consensus donor site, resulting in the deletion of 22 amino acid residues (N58_G79del22). | ||||
| §The same protein product prediction but different genomic change. | ||||
| bp, base pair; RT-PCR, reverse transcriptase polymerase chain reaction. | ||||
| SLC3A1 new mutations | ||||
| Missense | c.266T→C | L89P | Exon 1 | SSCP |
| c.368T→G | M123R | Exon 1 | DHPLC | |
| c.371A→G | Y124C | Exon 1 | DHPLC | |
| c.388T→C | S130P | Exon 1 | DHPLC/SSCP | |
| c.410A→G | D137G | Exon 1 | DHPLC | |
| c.446T→A | L149Q | Exon 2 | DHPLC | |
| c.566C→T | T189M | Exon 2 | SSCP | |
| c.1043A→C | H348P | Exon 6 | DHPLC | |
| c.1230C→A | N410K | Exon 7 | DHPLC | |
| c.1322C→G | P441R | Exon 7 | SSCP | |
| c.1364C→T | S455L | Exon 8 | DHPLC | |
| c.1366C→T | R456C | Exon 8 | DHPLC/SSCP | |
| c.1367G→A | R456H | Exon 8 | SSCP | |
| c.1520C→T* | S507L | Exon 9 | SSCP | |
| c.1702G→A | G568S | Exon 10 | DHPLC | |
| c.1998C→G | C666W | Exon 10 | DHPLC | |
| Nonsense | c.1865T→G* | L622X | Exon 10 | SSCP |
| Silent | c.1035G→A | Aberrant splicing† | Exon 6 | SSCP |
| Splice | c.1012–23C→G | D338_Y378delfsX5 | Intron 5 | SSCP and RT-PCR |
| Frameshift | c.664delT | W222fsX3 | Exon 3 | SSCP |
| c.1221dupT | P408fsX18 | Exon 7 | SSCP | |
| c.1699_1700delAG | R567fsX8 | Exon 10 | SSCP | |
| In frame deletion | c.1966_1968delCTT | L656del | Exon 10 | SSCP |
| Large rearrangements | c.892_1332del | E298_M444del | Intron 4–7 | PCR |
| SLC7A9 new mutations | ||||
| Missense | c.184G→A | V62M | Exon 3 | DHPLC |
| c.562G→A | V188M | Exon 5 | DHPLC | |
| c.695A→G | Y232C | Exon 6 | SSCP | |
| c.847C→T | L283F | Exon 8 | DHPLC | |
| c.947C→T | A316V | Exon 9 | DHPLC | |
| Silent | c.171C→T | Aberrant splicing‡ | Exon 3 | SSCP |
| Splice | c.235+3_+293del | L30fsX10 | Intron 3 | RT-PCR |
| c.586C→T | L196_G202delfsX5 | Exon 5 | SSCP and RT-PCR | |
| c.604+2T→C | L160X | Intron 5 | SSCP | |
| c.605–3C→A | I203fsX27 | Intron5 | DHPLC, SSCP | |
| c.1399+1G→T | K447fsX22§ | Intron12 | DHPLC | |
| c.1400–3C→G | K447fsX22§ | Intron12 | DHPLC | |
| Frameshift | c.151delT | S51fsX38 | Exon 3 | DHPLC |
| c.1265_1266delTG | L424fsX62 | Exon 12 | DHPLC | |
| Large rearrangements | c.1224+4166_1399+119dup(4972) | K386fsX78 | Exon 12 | Multiplex |
| c.1224+4166_1399+119del(4972) | V409fsX9 | Exon 12 | Multiplex | |