PMID: 11405810

Autopsy-confirmed familial early-onset Alzheimer disease caused by the l153V presenilin 1 mutation.

Archives of neurology
JC Janssen, PL Lantos, NC Fox, RJ Harvey, J Beck, A Dickinson, TA Campbell, J Collinge, DP Hanger, L Cipolotti, JM Stevens, MN Rossor
2001-06

13 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
14-73640375-C-T PSEN1 c.440C>T p.Thr147Ile Missense 5/12 -
14-73653567-C-T PSEN1 c.487C>T p.His163Tyr Missense 6/12 -
14-73640352-G-A PSEN1 c.417G>A p.Met139Ile Missense 5/12 -
14-73640362-A-T PSEN1 c.427A>T p.Ile143Phe Missense 5/12 -
14-73640350-A-G PSEN1 c.415A>G p.Met139Val Missense 5/12 -
14-73640338-A-G PSEN1 c.403A>G p.Asn135Asp Missense 5/12 -
14-73640363-T-C PSEN1 c.428T>C p.Ile143Thr Missense 5/12 -
14-73659552-T-C PSEN1 c.749T>C p.Leu250Ser Missense 7/12 -
14-73640373-G-C PSEN1 c.438G>C p.Met146Ile Missense 5/12 -
14-73640373-G-T PSEN1 c.438G>T p.Met146Ile Missense 5/12 -
14-73640351-T-A PSEN1 c.416T>A p.Met139Lys Missense 5/12 -
14-73640373-G-A PSEN1 c.438G>A p.Met146Ile Missense 5/12 -
14-73640392-C-G PSEN1 c.457C>G p.Leu153Val Missense 5/12 -