Table 1.
Homozygous or Compound Heterozygous SLC25A1 Mutations Found in Combined D,L-2-HGA Cases
| Subject | Nucleotide Change | Deduced Effect | Exon | SIFT Scorea |
|---|---|---|---|---|
| 1b | c.578C>G | p.Ser193Trp | 6 | 0.00 |
| 2b | c.844C>G | p.Arg282Gly | 9 | 0.00 |
| 3c | c.844C>T | p.Arg282Cys | 9 | 0.00 |
| 4d | c.821C>T | r.820_821del (p.Ala274Ilefs∗24) | 8 | – |
| 5 | c.18_24dup | p.Ala9Profs∗82 | 1 | – |
| c.499G>A | p.Gly167Arg | 5 | 0.00 | |
| 6 | c.18_24dup | p.Ala9Profs∗82 | 1 | – |
| c.134C>T | p.Pro45Leu | 2 | 0.00 | |
| 7b | c.18_24dup | p.Ala9Profs∗82 | 1 | – |
| c.768C>G | p.Tyr256∗ | 8 | – | |
| 8b | c.430G>C | p.Glu144Gln | 4 | 0.00 |
| 9 | c.18_24dup | p.Ala9Profs∗82 | 1 | – |
| 10b | c.605T>C | p.Met202Thr | 6 | 0.01 |
| c.890A>G | p.Tyr297Cys | 9 | 0.00 | |
| 11 | c.821C>T | r.820_821del (p.Ala274Ilefs∗24) | 8 | – |
| 12b | c.517_526del | p.Arg173Glyfs∗2 | 5 | – |
| c.821C>T | r.820_821del (p.Ala274Ilefs∗24) | 8 | – |
The primers used for PCR amplification and sequencing are summarized in Table S3. SLC25A1 RefSeq NM_005984.2.
a
All missense mutations were predicted with SIFT to be damaging (p < 0.05).
b
Homozygosity or compound heterozygosity was confirmed by DNA sequencing of the parents.
c
Homozygous mutation was also found with DNA sequencing in affected sibling.
d
Mutation was confirmed in mRNA isolated from fibroblasts.