Mutations

SORL1 c.5323-44C>T (SNP 25)

Other Names: SNP 25

Overview

Clinical Phenotype: Alzheimer's Disease
Position: (GRCh38/hg38):Chr11:121612692 C>T
Position: (GRCh37/hg19):Chr11:121483401 C>T
dbSNP ID: rs1010159
Coding/Non-Coding: Non-Coding
DNA Change: Substitution
Reference Isoform: SORL1 Isoform 1 (2214 aa)
Genomic Region: Intron 39

Functional Consequences

Does not affect levels of SORL1 protein in AD brains (membrane fraction) (Caglayan, 22410445). Does not affect SORL1 expression in response to BDNF in IPSC-derived neurons from AD cases (Young, 25772071).

Last Updated: 18 Jul 2024

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References

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Further Reading

No Available Further Reading

Protein Diagram

Primary Papers

  1. Rogaeva E, Meng Y, Lee JH, Gu Y, Kawarai T, Zou F, Katayama T, Baldwin CT, Cheng R, Hasegawa H, Chen F, Shibata N, Lunetta KL, Pardossi-Piquard R, Bohm C, Wakutani Y, Cupples LA, Cuenco KT, Green RC, Pinessi L, Rainero I, Sorbi S, Bruni A, Duara R, Friedland RP, Inzelberg R, Hampe W, Bujo H, Song YQ, Andersen OM, Willnow TE, Graff-Radford N, Petersen RC, Dickson D, Der SD, Fraser PE, Schmitt-Ulms G, Younkin S, Mayeux R, Farrer LA, St George-Hyslop P. The neuronal sortilin-related receptor SORL1 is genetically associated with Alzheimer disease. Nat Genet. 2007 Feb;39(2):168-77. PubMed.

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