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Fig. 1 | Alzheimer's Research & Therapy

Fig. 1

From: Exome sequencing reveals a rare damaging variant in GRIN2C in familial late-onset Alzheimer's disease

Fig. 1

A Simplified pedigree of the S family. Co-segregation of GRIN2C p.(A1072V) with AD. To respect the privacy of the participants, the sex of some persons was masked, and the pedigree was scrambled. The arrows indicate the proband (II7) and the subjects who underwent ES (II6, II9, III2, III11, IV7). The black diamonds indicate individuals diagnosed with AD, and the pedigree shows family members with an Alzheimer's disease phenotype with segregation of the missense variant in the GRIN2C gene. B Sanger sequencing chromatogram showing the wild-type sequence and the heterozygous c.3215C > T heterozygous variant in the GRIN2C gene. C The variant tolerance of aminoacid changes in GRIN2C is reported using the Metadome website (https://stuart.radboudumc.nl/metadome/) [26]. The Ala1072Val change is considered “intolerant”, suggesting a pathogenic role.

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Alzheimer's Research & Therapy

ISSN: 1758-9193