Amino acid replacement: ?827term.
The premature stop codon should result in production of a truncated SMC2 protein which lacks the C-terminal globular domain and part of the adjacent coiled-coil sequence.
Nucleotide substitution: C2482T.
C14849730T
C2482T
Q828term | SMC2-PA
?827term
The mutation is reported as a C to T nucleotide change in codon 827 leading to a nonsense mutation. A C to T change in codon 827 (Leu - CTG) does not result in a stop codon but a C to T change in the adjacent Gln (CAG) codon would result in a premature stop.
mitosis & nuclear chromosome
The brains of SMC2jsl2 third instar larvae are much smaller than wild-type brains. The brains of SMC2jsl2 second instar larvae show a much lower percentage of mitotic cells than wild type. The chromosomes of these cells appear fuzzy with almost no sister chromatid resolution. All telophase and anaphase-like cells show chromatin bridges and an abnormally high percentage of anaphase cells also show bridges. However, there are no obvious delays in mitotic progression.
J. Sekelsky