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. 2023 Oct 21;21:5395–5407. doi: 10.1016/j.csbj.2023.10.031

Table 3.

SNPs of the 5 neurodegenerative disease datasets present in coding regions. In the table for each SNP are defined: the associated genes, the associated neurodegenerative disease, the Uniprot name of the protein encoded by the associated gene and the missense mutation caused by the SNP (wild type amino acid, position, mutated amino acid).

SNPs (rsID) Associated gene Associated Illnesses Uniprot Entry Mutations
rs113247976 KIF5A Amyotrophic lateral sclerosis Q12840 P986L
P986R
rs75087725 CFAP410 Amyotrophic lateral sclerosis O43822 V58L
rs1859788 PILRA Alzheimer's disease Q9UKJ1 R78G
rs202122669 CYP2R1 Parkinson's disease Q6VVX0 P36L
rs34311866 TMEM175 Parkinson's disease Q9BSA9 M393T