Table 1.
Allele (Previous Name) | Mutation | Reading Frame Change |
---|---|---|
pir1-1 (sym40) | 414-bp deletion (position 12847–13261) | IT945-946 → VV L947→ stop |
pir1-2 (S14-3) | C6934 → T | Q470 → stop |
pir1-3 (sym80) | C11514 → T | Q854 → stop |
pir1-4 (S57-F) | C3123 → T | Q136 → stop |
pir1-5 (B31-C) | G11051 → A | Splice site mutation |
nap1-1 (sym67) | LORE-1 insertion in exon 18 (position 17216) | Insertion of 15 amino acids after P692 → premature stop |
nap1-2 (S12-5A) | 3574-bp deletion, affecting exons 2 to 5, (position 3393–6966) | Possibly cryptic start at M205 |
nap1-3 (S90-D) | C6473 → T | Q177 → stop |