ABCA7 p.Leu400Val
| Predicted by SNAP2: | A: D (63%), C: N (53%), D: D (75%), E: D (63%), F: N (57%), G: D (75%), H: D (59%), I: N (82%), K: D (66%), M: N (82%), N: D (66%), P: D (71%), Q: D (53%), R: D (66%), S: D (63%), T: N (53%), V: N (72%), W: D (71%), Y: D (53%), |
| Predicted by PROVEAN: | A: N, C: D, D: D, E: D, F: N, G: D, H: D, I: N, K: D, M: N, N: D, P: D, Q: D, R: D, S: D, T: D, V: N, W: D, Y: N, |
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[hide] Mutation analysis of patients with neurodegenerati... Neurobiol Aging. 2015 Jan;36(1):545.e9-14. doi: 10.1016/j.neurobiolaging.2014.07.038. Epub 2014 Aug 1. Ghani M, Lang AE, Zinman L, Nacmias B, Sorbi S, Bessi V, Tedde A, Tartaglia MC, Surace EI, Sato C, Moreno D, Xi Z, Hung R, Nalls MA, Singleton A, St George-Hyslop P, Rogaeva E
Mutation analysis of patients with neurodegenerative disorders using NeuroX array.
Neurobiol Aging. 2015 Jan;36(1):545.e9-14. doi: 10.1016/j.neurobiolaging.2014.07.038. Epub 2014 Aug 1., [PMID:25174650]
Abstract [show]
Genetic analyses of patients with neurodegenerative disorders have identified multiple genes that need to be investigated for the presence of damaging variants. However, mutation analysis by Sanger sequencing is costly and time consuming. We tested the utility of a recently designed semi-custom genome-wide array (NeuroX; Illumina, Inc) tailored to study neurodegenerative diseases (e.g., mutation screening). We investigated 192 patients with 4 different neurodegenerative disorders for the presence of rare damaging variations in 77 genes implicated in these diseases. Several causative mutations were identified and confirmed by Sanger sequencing, including PSEN1 p.M233T responsible for Alzheimer's disease in a large Italian family, as well as SOD1 p.A4V and p.I113T in patients with amyotrophic lateral sclerosis. In total, we identified 78 potentially damaging rare variants (frequency <1%), including ABCA7 p.L400V in a family with Alzheimer's disease and LRRK2 p.R1514Q in 6 of 98 patients with Parkinson's disease (6.1%). In conclusion, NeuroX appears to be helpful for rapid and accurate mutation screening, although further development may be still required to improve some current caveats.
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No. Sentence Comment
5 In total, we identified 78 potentially damaging rare variants (frequency <1%), including ABCA7 p.L400V in a family with Alzheimer`s disease and LRRK2 p.R1514Q in 6 of 98 patients with Parkinson`s disease (6.1%).
X
ABCA7 p.Leu400Val 25174650:5:97
status: NEW83 (B) FLO61 with the rare ABCA7 p.L400V variant (C > G).
X
ABCA7 p.Leu400Val 25174650:83:32
status: NEW104 Two AD cases from Italian FLO61 family had an extremely rare heterozygous ABCA7 p.L400V variant absent in the ESP and 1000Genomes databases.
X
ABCA7 p.Leu400Val 25174650:104:82
status: NEW125 For instance, rare variants in 2 AD-related genes (ABCA7 p.L400V and ZCWPW1 p.H351R) were observed in 2 related AD patients.
X
ABCA7 p.Leu400Val 25174650:125:59
status: NEW