A deep mutational scan of low-density lipoprotein receptor adaptor protein 1 (LDLRAP1) based on a yeast two-hybrid assay.
July 10, 2019
Last updated July 15, 2019
Published July 15, 2019
Member of urn:mavedb:00000036
Coronary heart disease (CHD) is a leading cause of death worldwide. A major risk factor of CHD is high low-density lipoprotein cholesterol (LDL-C), which is the defining feature of familial hypercholesterolemia, a genetic disorder characterized by mutations in genes involved in cholesterol uptake, such as LDLRAP1. Proactive maps of LDLRAP1 may identify pathogenic variation of autosomal recessive hypercholesterolemia (ARH) for early diagnosis of ARH.
The yeast-based assay of LDLRAP1 is a yeast two-hybrid assay that assesses the ability of human LDLRAP1 to interact with protein partners, which would activate the expression of HIS3 to allow histidine production and the growth of a yeast strain in selective media lacking histidine (Fields and Song 1989). We followed the TileSeq approach (Weile & Sun et al, MSB, 2017) to produce variant effect maps of LDLRAP1 based on its interaction with OBFC1 or AP2B1.
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Type: Protein coding
Organism: Homo sapiens
Reference genome: hg38
Reference assembly: Other/Synthetic
Reference sequence: ATGGACGCGCTCAAGTCGGCGGGGCGGGCGCTGATCCGGAGCCCCAGCTTGGCCAAGCAGAGCTGGGGGGGCGGTGGCCGGCACCGCAAGCTGCCTGAGAACTGGACAGACACGCGGGAGACGCTGCTGGAGGGGATGCTGTTCAGCCTCAAGTACCTGGGCATGACGCTAGTGGAGCAGCCCAAGGGTGAGGAGCTGTCGGCCGCCGCCATCAAGAGGATCGTGGCTACAGCTAAGGCCAGTGGGAAGAAGCTGCAGAAGGTGACTCTGAAGGTGTCGCCACGGGGAATTATCCTGACAGACAACCTCACCAACCAGCTCATTGAGAACGTGTCCATATACAGGATCTCCTATTGCACAGCAGACAAGATGCACGACAAGGTGTTTGCATACATCGCCCAGAGCCAGCACAACCAGAGCCTCGAGTGCCACGCCTTCCTCTGCACCAAGCGGAAGATGGCACAGGCTGTTACCCTCACCGTAGCCCAGGCCTTCAAAGTCGCCTTTGAGTTTTGGCAGGTGTCCAAGGAAGAGAAAGAGAAGAGGGACAAAGCCAGCCAAGAGGGAGGGGACGTCCTGGGGGCCCGCCAAGACTGCACCCCCCCCTTGAAGAGCTTGGTCGCCACTGGGAACCTGCTGGACTTAGAGGAGACGGCTAAGGCCCCGCTGTCCACGGTCAGCGCCAACACCACCAACATGGACGAGGTGCCGCGGCCACAAGCCTTGAGTGGCAGCAGTGTTGTCTGGGAGCTGGATGATGGCCTGGATGAAGCGTTTTCGAGGCTTGCCCAGTCTCGGACAAACCCTCAGGTCCTGGACACTGGCCTGACAGCCCAGGACATGCATTACGCCCAGTGCCTCTCGCCTGTCGACTGGGACAAGCCTGACAGCAGCGGCACAGAGCAGGATGACCTCTTCAGCTTCTGA
DOI: No associated DOIs
Raw reads: No associated raw reads
LDLRAP1 OBFC1 imputed and refined
A deep mutational scan of LDLRAP1 based on a Y2H assay with the interactor OBFC1.
LDLRAP1 AP2B1 imputed and refined
A deep mutational scan of LDLRAP1 based on a Y2H assay with the interactor AP2B1.