Table 2

 New SLC3A1 and SLC7A9 mutations

TypeNucleotide changeAmino acid change/ predicted consequenceExon or intronDetection 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→CL89PExon 1SSCP
c.368T→GM123RExon 1DHPLC
c.371A→GY124CExon 1DHPLC
c.388T→CS130PExon 1DHPLC/SSCP
c.410A→GD137GExon 1DHPLC
c.446T→AL149QExon 2DHPLC
c.566C→TT189MExon 2SSCP
c.1043A→CH348PExon 6DHPLC
c.1230C→AN410KExon 7DHPLC
c.1322C→GP441RExon 7SSCP
c.1364C→TS455LExon 8DHPLC
c.1366C→TR456CExon 8DHPLC/SSCP
c.1367G→AR456HExon 8SSCP
c.1520C→T*S507LExon 9SSCP
c.1702G→AG568SExon 10DHPLC
c.1998C→GC666WExon 10DHPLC
Nonsense c.1865T→G*L622XExon 10SSCP
Silent c.1035G→AAberrant splicing†Exon 6SSCP
Splice c.1012–23C→GD338_Y378delfsX5Intron 5SSCP and RT-PCR
Frameshift c.664delTW222fsX3Exon 3SSCP
c.1221dupTP408fsX18Exon 7SSCP
c.1699_1700delAGR567fsX8Exon 10SSCP
In frame deletion c.1966_1968delCTTL656delExon 10SSCP
Large rearrangements c.892_1332delE298_M444delIntron 4–7PCR
SLC7A9 new mutations
Missense c.184G→AV62MExon 3DHPLC
c.562G→AV188MExon 5DHPLC
c.695A→GY232CExon 6SSCP
c.847C→TL283FExon 8DHPLC
c.947C→TA316VExon 9DHPLC
Silent c.171C→TAberrant splicing‡Exon 3SSCP
Splice c.235+3_+293delL30fsX10Intron 3RT-PCR
c.586C→TL196_G202delfsX5Exon 5SSCP and RT-PCR
c.604+2T→CL160XIntron 5SSCP
c.605–3C→AI203fsX27Intron5DHPLC, SSCP
Frameshift c.151delTS51fsX38Exon 3DHPLC
c.1265_1266delTGL424fsX62Exon 12DHPLC
Large rearrangements c.1224+4166_1399+119dup(4972)K386fsX78Exon 12Multiplex
c.1224+4166_1399+119del(4972)V409fsX9Exon 12Multiplex