Mutation Wish List

A running wish-list of human genotypes

UPDATE 02/20/2012: Added 20 more genes

UPDATE 06/03/2014: Added a MUCH-overdue update

UPDATE 01/07/2015: Tumblr’s Dead. Making a long-overdue migration

UPDATE 04/19/2016: Oh Hell, I wasn’t expeting people to try implementing some of these while CRISPR is in its infancy. Added a much-needed “Potential Negatives” Column.

UPDATE 03/25/2019: Okay another site migration. Medium’s Dying. Don’t fail us now Gastsby.js!

UPDATE 01/25/2020: Updated the section clarifying what traits this post is NOT covering

UPDATE 04/23/2020: Added a link to a resource on a few edge cases regarding improvements in longevity in humans (namely the precise combinations of genes that synergistically result in longevity changes)

Multigenic traits can have single gene variants (often rare in populations) with large impacts.
Genotype Key:

  • -/- means double-null for the gene (from both mother and father).
  • +/- means one copy ok (+) and one broken (-) is sufficient to have a positive impact.
  • The rest require very specific sequences to see the positive effect.

    • For example E6V means that at position 6 an “E” (Glutamate amino acid codon GAG) is mutated into a “V” (Valine codon GTG).

This will likely be updated as time goes on (and more recommendations, as well as updated news about certain genes already in this list, are always welcome).

Gene Genotype Protective, resilient or extreme effects Potential Negatives Source
ABCC11 -/- Low odor production unknown link
ACTN3 unknown Super-sprinter Endurance link
ADH1B unknown Alcoholism resistance unknown link
ADH4 unknown Drug Tolerance Drug Addiction (see Ozzy Osbourne) link
ADIPOQ unknown Resistance to Artery Hardening unknown link
ADRB1 A187V Less sleep unknown link
ALDH2 *2 variant Less flushing after drinking Greater risk of esophageal cancer link
AMPK unknown Diabetes resistance, endurance running unknown link
ANGPTL3 -/+ Lipid and cardiac health unknown link
APOA1 R173C/+ Low HDL & CVD unknown link
APOE E2/E2 Low Alzheimer’s (E2=R112C, R158C) unknown link
APOL1 +/- Trypanosoma brucei resistance unknown link
APP A673T/+ Low Alzheimer’s unknown link
AS3MT unknown Arsenic Clearance unknown link
BDKRB2 a/g expression Deep Diving unknown link
BDNF unknown Coffee more rewarding Caffeine addiction link
BHLHE41 = DEC2 P385R/+ Less sleep unknown link
CCR5 -/- HIV resistance W.Nile Virus & flu; bone link
CD33 unknown Alzheimer’s Protection unknown link
CETP unknown Longevity, Low Cholesterol unknown link
CFTR +/- TB or other resistance unknown link
DRD4-7R unknown Adventurousness unknown link
EGLN1 a/g High altitude unknown link
EPAS1 3.4kb del High altitude unknown link
EPOR W439X High oxygen transport unknown link
FAAH-OUT del/del Pain insensitive Unnoticed harm link
FBN1 unknown Super Flexibility (Marfan Syndrome) Cardiovascular disease link
FOXC2 unknown Long Eyelashes (elizabeth Taylor) Eye problems link
FOXO3 unknown Longevity unknown link
FUT2 -/- Norovirus resistance Crohn’s disease link
GHR,GH -/- Lower Cancer incidence Smaller Stature link
GLUK4 del/+ Low bipolar, high cognitive unknown link
GRIN2B unknown Enhanced Memory & Learning Autism link
HBB E6V/+ Malaria resistance Exertional rhabdomyolysis link
HBC unknown Malaria resistance Anemia link
hDEC2 unknown More efficient Sleep unknown link
HEXA +/- TB resistance Tay-Sachs carrier link
HLA-DRB1 *04:04 Tanned Look Addison’s Disease link
HOXA11 unstated Augmented manipulation ability with six-fingered hands Gloves not fitting link
HSD17B13 +/TA(lof) Low Chronic Liver Disease unknown link
HSP70/HT1080 unknown Heat resistance (?) unknown link
IFIH1 = MDA5 E627X/+ Low T1 Diabetes unknown link
IFNL4 dG/TT High Hepatitis C virus clearance unknown link
IL23R R381Q/+ IBD: Crohn’s disease, Ulcerative colitis unknown link
LRP5 G171V/+ Extra-strong bones Low Buoyancy link
LRRTM1 unknown Ambidextrous Schizophrenia risk link
MCM6 unknown Lactose Tolerance unknown link
miR-29b overproduction (human cells) Low Alzheimer’s unknown link
MSTN -/- Large, lean muscles, low atherosclerosis unknown link
MTHFR A222V High altitude unknown link
NGF overproduction (human) Low Alzheimer’s unknown link
NPC1 unknown Ebola Resistance unknown link
NPSR1 Y206H/+ Less sleep unknown link
NRF2 AA+, C/T Endurance Running Reduced Sprinting ability link
NTRK1 del/del Pain insensitive, no sweat Unnoticed harm, hyperthermia link
OPN1MW unknown Tetrachromacy unknown link
OPN1MW2 unknown Tetrachromacy unknown link
PCSK9 -/- Low coronary disease Diabetes, Low cognition link
PDE10A c/t incr thyroxine Breath-hold diving unknown link
PKU +/- Ochratoxin resistance unknown link
PPARA unknown Low-oxygen resistance (Hyperbaric chamber) unknown link
PRNP G127V Prion resistance unknown link
SCN9A -/- Pain insensitive Unnoticed harm link
SGK1 unknown Protection against Parkonson’s unknown link
SLC6A4 unknown Coffee more rewarding Caffeine addiction link
SLC30A8 -/+ Low T2 Diabetes unknown link
TAS2R38 unknown Enhanced Taste Super-taste extends to foul food link
TBX15/IL-10 unknown Cold resistance (?) unknown link

Note 1: Some of the above studies need independent reproduction.

Note 2: Lower case a,c,g,t are nucleotide variants (typically regulatory), while uppercase indicated amino acid variants.

Note 3: Some traits, such as being a musical or artistic prodigy, have no known specific genetic associations, or have only a tenuous genetic background. As such, they are not included here. Many of these impressive mental feats may be a result of family background (a common theme among many child prodigies), rigorous training (as is the case with many “human calculators”), or making the most of some health problems (it’s known that many artists, especially the impressionists, have had vision problems raning from myopia to missing eye lenses).

Note 4: With few exceptions, it is difficult to tie general intelligence to genetics. This is even considering claims such as Robert Plomin’s announcement in 1997 of the discovery of “a gene for intelligence” on Chromosome 6 (it turns out it was not a “a gene for intelligence” after all). Most genes in this list relating to traits such as memory often have side-effects such as schizophrenia or high risk of autism.

Note 5: For traits like height, there are almost far too many genes to count. Around 9,500 SNPs explain ~29% of phenotypic variance.

Note 6: “Beauty” is controlled by even more genes (which, considering that makeup is a thing that exists, probably aren’t worth the effort)

Note 7: For Human Longevity Genes, there are fewer associated genes than with height or Beauty, but there are still a lot for one list. The Human Longevity Database is a better Source of this info. It currently has 270 different entries for human genes associated with aging

Note 8: That being said, for Human Longevity Genes, there are many known genes that show an effect when combined with other specific alleles. The SynergyAge Database goes into more detail with both synergistic and antagonistic interactions of longevity-associated genes.


Cited as:

@article{mcateer2011mutations,
  title   = "Mutation Wish List",
  author  = "McAteer, Matthew",
  journal = "matthewmcateer.me",
  year    = "2011",
  url     = "https://matthewmcateer.me/blog/mutation-wish-list/"
}

If you notice mistakes and errors in this post, don’t hesitate to contact me at [contact at matthewmcateer dot me] and I would be very happy to correct them right away!

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