Research Paper Volume 13, Issue 1 pp 1176—1185

The 1316T>C missenses mutation in MTHFR contributes to MTHFR deficiency by targeting MTHFR to proteasome degradation

MTHFR exosmic sequencing results of the proband and the parents. (A) MTHFR exosmic sequencing indicates a combined heterozygotic mutation in the proband (III2), the disease-associated mutations 1004G>A(R335H) heredities from the proband’s father (II3) and the p.Leu439Pro (L439P) mutation inherited from her mother (II4). (B) Schematic chart depicting the structure of the MTHRF gene and the protein. The letters highlighted with red box indicate the SNP/mutation sites in the gene and the corresponding amino acid residuals.

Figure 2. MTHFR exosmic sequencing results of the proband and the parents. (A) MTHFR exosmic sequencing indicates a combined heterozygotic mutation in the proband (III2), the disease-associated mutations 1004G>A(R335H) heredities from the proband’s father (II3) and the p.Leu439Pro (L439P) mutation inherited from her mother (II4). (B) Schematic chart depicting the structure of the MTHRF gene and the protein. The letters highlighted with red box indicate the SNP/mutation sites in the gene and the corresponding amino acid residuals.