Selected article for: "sense strand and stop codon"
Author: Alkhater, Reem A.; Wang, Peixiang; Ruggieri, Alessandra; Israelian, Lori; Walker, Susan; Scherer, Stephen W.; Smith, Mary Lou; Minassian, Berge A.
Title: Dominant LMAN2L mutation causes intellectual disability with remitting epilepsy
  • Document date: 2019_3_7
    • ID: 5rt5vuwu_15
    Snippet: WES was performed in proband and middle brother. Table S2 lists their shared variants. Of these, one, Chr2 (GRCh37):g.97373000delA; LMAN2L NM_001142292.1: c.1073delT; p.(Phe358Serfs*16), was predicted to have a damaging effect on the protein and relevant to the disease phenotype and inheritance pattern. Sanger sequencing showed the variant to be present in the affected father and three affected sons (Fig. 1A) . The missing A nucleotide on the ant.....
    Document: WES was performed in proband and middle brother. Table S2 lists their shared variants. Of these, one, Chr2 (GRCh37):g.97373000delA; LMAN2L NM_001142292.1: c.1073delT; p.(Phe358Serfs*16), was predicted to have a damaging effect on the protein and relevant to the disease phenotype and inheritance pattern. Sanger sequencing showed the variant to be present in the affected father and three affected sons (Fig. 1A) . The missing A nucleotide on the antisense strand results in loss of a T nucleotide on the sense strand and a frameshift disrupting the KRFY ER localization motif, and stop codon, and replacing the protein's last two amino acids, FY, with a new 15amino acid stretch, STEPSCCHHFCDCHP (Fig. 1B) .

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