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[Preprint]. 2023 Nov 13:2023.07.01.547348. [Version 3] doi: 10.1101/2023.07.01.547348

Table 3.

Homologous mutations for SORL1 R953C in LDLR and LRP

Disease SNP VarSome Inheritance pattern References

p.R595W_LDLR FH rs373371572 Pathogenic A.D. Descamps et al., 2001
Chiou et al., 2010

p.R494Q_LRP5 OPPG rs121908664 Pathogenic A.R. Gong et al., 2001
p.R494W_LRP5 FEVR N.A. Pathogenic A.R. Ai et al., 2005
Abdel-Hamid et al., 2022

p.R752G_LRP5 FEVR rs121908674 Pathogenic A.R. Jiao et al., 2004
p.R752W_LRP5 OPPG/FEVR N.A. Pathogenic A.R. Alonso et al., 2015
Hull et al., 2019

p.R1188W_LRP5 PCLD rs141178995 Pathogenic A.D. Cnossen et al., 2014

p.R632H_LRP4 SOST2 N.A. Likely Pathogenic A.R. Huybrechts et a., 2021

N.A. = Not applicable

A.D. =Autosomal Dominant

A.R. =Autosomal Recessive