Amino acid replacement: Q479term.
C23815460T
Q518term | eIF4G2-PA; Q518term | eIF4G2-PC
Q479term
The reported amino acid location is based on an isoform with an intron that removes 39 aa from the first exon of RA.
eIF4G2Z3-3283/eIF4G2BR21-37 males have testes that contain plentiful spermatocytes but completely lack elongated spermatids or mature sperm. The spermatocytes do not appear to properly undergo meiotic divisions in these males; the meiotic chromosomes initiate condensation, but never condense completely or move to the centre of the nucleus (as occurs in wild type) and no metaphase or anaphase figures are detected.
eIF4G2Z3-3283/eIF4G2BR21-37 males germ cells appear to proceed to early stages of spermatid differentiation, despite the failure in meiotic division; they produce large aberrant cells resembling abnormal early spermatids with a large nucleus and a partially aggregated mitochondrial cloud. A fraction of late stage mutant germ cells show partial spermatid elongation.
eIF4G2Z3-3283/eIF4G2BR21-37 is rescued by eIF4G2+t9.6