Table 1 Summary of data collated for 10 mt-aaRS genes using PubMed literature review updated to 11/12/2023.
From: A systematic analysis of mitochondrial aminoacyl tRNA synthetase variants in a rare disease cohort
Gene | HGNC ID | Published individuals | Publications | Compound heterozygous or homozygous variants |
|---|---|---|---|---|
AARS2 | HGNC:21022 | 44 | 21 | 32 |
CARS2 | HGNC:25695 | 6 | 5 | 4 |
DARS2 | HGNC:25538 | 35 | 10 | 16 |
EARS2 | HGNC:29419 | 28 | 12 | 23 |
IARS2 | HGNC:29685 | 13 | 5 | 11 |
LARS2 | HGNC:17095 | 19 | 6 | 14 |
NARS2 | HGNC:26274 | 25 | 12 | 14 |
RARS2 | HGNC:21406 | 25 | 11 | 18 |
VARS2 | HGNC:21642 | 18 | 5 | 8 |
WARS2 | HGNC:12651 | 21 | 8 | 16 |
