Table 1.
Identified biallelic variants in the AGTPBP1 gene. M: Male F: Female. * means substitution.
| Patient (Age; Sex; Consanguinity) | Allelic Variant | Consequence | Region Affected | Reference |
|---|---|---|---|---|
| 2-year-old; F; NO |
NM_001330701 c.2336-1G>T |
Transversion in intron 17. Results in a splice site aberration, a frameshift and premature termination (M780fs) | Cytosolic carboxypeptidase N-terminal domain | [1] |
|
NM_001330701 c.2736delC |
Deletion in exon 21. Results in a frameshift and premature termination (T912Ter) | Zinc-carboxypeptidase domain | [1] | |
| 12-month-old; M; YES |
NM_001330701 c.2752C>T |
Transition in exon 21. Results in R918W substitution | Zinc-carboxypeptidase domain | [1] |
| 7-month-old; M; YES | - | Deletion of exons 1 to 12 | Non-defined | [1] |
| Not available |
NM_015239.2 c.2632C>T |
Cerebellar hypoplasia and lower motor neuron degeneration. Results in R878W substitution | Zinc-carboxypeptidase domain | [4] |
| 4-year-old; M; NO |
NM_001286715 c.2351A>G |
Results in a T784C substitution | Non-defined | [2] |
|
NM_001286715 c.2998C>T |
Results in a frameshift and premature termination (R1000Ter) | Zinc-carboxypeptidase domain | ||
| 15-month-old; M; YES |
NM_001286715 c.2342C>T+2T>G |
Skips exon 15 (loss of 29 highly conserved aa) | Non-defined modular domain | [2] |
| 5-year-old; F; NO |
NM_001330701 c.2752C>T |
Transition in exon 21. Results in R918W substitution | Zinc-carboxypeptidase domain | [1] |
|
NM_001330701 c.2080T>G |
Transversion in exon 15. Results in a Y694D substitution | Non-defined | ||
| 16-month-old; F; YES |
NM_001330701 c.2566C>T |
Homozygous transition in exon 19. Results in a Q856 * | Non-defined | [1] |
| 8-year-old; M; YES |
NM_001330701 c.2395C>T |
Results in a R799C substitution | Cytosolic carboxypeptidase N-terminal domain | [1] |
| 8-year-old; M; YES |
NM_001330701 c.2566C>T |
Results in a P799C substitution | Cytosolic carboxypeptidase N-terminal domain | [1] |
| 7-month-old; M; YES |
NM_001330701 c.2396G>T |
Results in a P799L substitution | Cytosolic carboxypeptidase N-terminal domain | [3] |
| 2-year-old; M; YES |
NM_001330701 c.2396G>T |
Results in a P799L substitution | Cytosolic carboxypeptidase N-terminal domain | [3] |
| 20-month-old; F; NO |
NM_001330701 c.988C>T |
Results in a R330 * | Non-defined | [1] |
| Results in a Y912X substitution | Zinc-carboxypeptidase domain | |||
| 8-year-old; M; YES and 5-year-old; F; YES |
NM_001330701 c.2728C>T |
Results in a R910C substitution | Zinc-carboxypeptidase domain | [1] |
| 3 infant sibs; YES |
NM_001330701 c.2362C>T |
Transition in exon 18. Results in a Q788 * | Cytosolic carboxypeptidase N-terminal domain | [1] |
| 14-year-old; M; NO |
NM_001330701 c.2552C>T |
Transition in exon 19, resulting in a T851M substitution | Non-defined | [1] |
|
NM_001330701 c.2969A>T |
transversion in exon 22, resulting in a H990L substitution | Zinc-carboxypeptidase domain | ||
| 21-month-old; M; YES |
NM_001330701 c.3293G>A |
Mutation in exon 24, resulting in a S1098N substitution | 3′ end domain | [36] |
| 17-year-old; F; YES |
NM_001330701 c.3293G>A |
Mutation in exon 24, resulting in an S1098N substitution | 3′ end domain | [36] |