Table 5.
Position and potential effects of the detected mutations in the PALMD gene
| Location in the gene | Accession | Mutation | Amino acid change |
|---|---|---|---|
| Exon 5 |
NM_001035079 |
c.547 T > A |
Ser/Thr |
| Exon 7 | NM_001035079 | c.1320G > A | Synonymous (Gln/Gln) |
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