S84L Mutation in Exon 3: Genetic Sequencing and Pedigree Analysis #117289 (License: Personal Use)

The image displays paired Sanger sequencing traces for Exon 3, contrasting a normal CGA codon (encoding serine) with a heterozygous CG/AA variant indicating a Ser84Leu (S84L) missense mutation. Adjacent is a three-generation pedigree where affected individuals (filled symbols) carry the S84L variant, with phenotypic annotation including stature measurements (153 cm, 137 cm), suggesting possible genotype-phenotype correlation.

Used in clinical genetics reports, research publications, or educational materials to illustrate pathogenic variant identification and familial segregation analysis; targets clinicians, genetic counselors, and researchers investigating monogenic disorders.