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. 2017 Jul 26;292(37):15312–15320. doi: 10.1074/jbc.M117.799346

Table 1.

Loss-of-function mutations that can be beneficial for survival

Gene Type of mutation Disease improved References
NPC1L1 Frameshift, non-sense and splice-site mutations Coronary heart disease 59
APOC3 Null mutation Ischemic vascular disease 60
SLC30A8 Non-sense mutations Type II diabetes 19
LPA Splice-site mutations Cardiovascular diseases 18
APP Missense mutation Alzheimer's disease and age-related cognitive decline 61
PCSK9 Non-sense and missense mutations Coronary heart disease 20
Caspase12 Gene deletion Sepsis 62
CCR-5 Deletion leading to frameshift mutation HIV-1 infection 63
TYK2 Missense mutations Rheumatoid arthritis, systemic lupus erythematosus 64
IFIH1 Missense and non-sense mutations Type 1 diabetes 65
CARD9 Splice-site mutation Inflammatory bowel diseases (IBD) 66
RNF186 Non-sense mutation Ulcerative colitis 67
CD33 Increase in non-functional splice variant Alzheimer's disease and age-related cognitive decline This paper