Pathogenicity: Alzheimer's Disease : Pathogenic
Clinical Phenotype: Alzheimer's Disease
Reference Assembly: GRCh37 (105)
Position: Chr14:73659480 T>G
dbSNP ID: rs63749961
Mutation Type: Point, Missense
Codon Change: CTC to CGC
Reference Isoform: PSEN1 isoform 1 (467 aa)
Genomic Region: Exon 7
In one individual, neuropathology was found to be consistent with AD, including numerous neuritic plaques and neurofibrillary tangles in the hippocampus and neocortex.
Although the biological effects of this mutation remain unknown, its position is consistent with the helical alignment of pathogenic mutations in transmembrane domain 5.
Last Updated: 01 Mar 2019
No Available References
- Ma L, Zhang J, Shi Y, Wang W, Ren Z, Xia M, Zhang Y, Yang M. Gene mutations in a Han Chinese Alzheimer's disease cohort. Brain Behav. 2019 Jan;9(1):e01180. Epub 2018 Dec 14 PubMed.
- Coleman P, Kurlan R, Crook R, Werner J, Hardy J. A new presenilin Alzheimer's disease case confirms the helical alignment of pathogenic mutations in transmembrane domain 5. Neurosci Lett. 2004 Jul 8;364(3):139-40. PubMed.
Other mutations at this position
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