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).

GeneGenotypeProtective, resilient or extreme effectsPotential NegativesSource
ABCC11-/-Low odor productionunknownlink
ACTN3unknownSuper-sprinterEndurancelink
ADH1BunknownAlcoholism resistanceunknownlink
ADH4unknownDrug ToleranceDrug Addiction (see Ozzy Osbourne)link
ADIPOQunknownResistance to Artery Hardeningunknownlink
ADRB1A187VLess sleepunknownlink
ALDH2*2 variantLess flushing after drinkingGreater risk of esophageal cancerlink
AMPKunknownDiabetes resistance, endurance runningunknownlink
ANGPTL3-/+Lipid and cardiac healthunknownlink
APOA1R173C/+Low HDL & CVDunknownlink
APOEE2/E2Low Alzheimer’s (E2=R112C, R158C)unknownlink
APOL1+/-Trypanosoma brucei resistanceunknownlink
APPA673T/+Low Alzheimer’sunknownlink
AS3MTunknownArsenic Clearanceunknownlink
BDKRB2a/g expressionDeep Divingunknownlink
BDNFunknownCoffee more rewardingCaffeine addictionlink
BHLHE41 = DEC2P385R/+Less sleepunknownlink
CCR5-/-HIV resistanceW.Nile Virus & flu; bonelink
CD33unknownAlzheimer’s Protectionunknownlink
CETPunknownLongevity, Low Cholesterolunknownlink
CFTR+/-TB or other resistanceunknownlink
DRD4-7RunknownAdventurousnessunknownlink
EGLN1a/gHigh altitudeunknownlink
EPAS13.4kb delHigh altitudeunknownlink
EPORW439XHigh oxygen transportunknownlink
FAAH-OUTdel/delPain insensitiveUnnoticed harmlink
FBN1unknownSuper Flexibility (Marfan Syndrome)Cardiovascular diseaselink
FOXC2unknownLong Eyelashes (elizabeth Taylor)Eye problemslink
FOXO3unknownLongevityunknownlink
FUT2-/-Norovirus resistanceCrohn’s diseaselink
GHR,GH-/-Lower Cancer incidenceSmaller Staturelink
GLUK4del/+Low bipolar, high cognitiveunknownlink
GRIN2BunknownEnhanced Memory & LearningAutismlink
HBBE6V/+Malaria resistanceExertional rhabdomyolysislink
HBCunknownMalaria resistanceAnemialink
hDEC2unknownMore efficient Sleepunknownlink
HEXA+/-TB resistanceTay-Sachs carrierlink
HLA-DRB1*04:04Tanned LookAddison’s Diseaselink
HOXA11unstatedAugmented manipulation ability with six-fingered handsGloves not fittinglink
HSD17B13+/TA(lof)Low Chronic Liver Diseaseunknownlink
HSP70/HT1080unknownHeat resistance (?)unknownlink
IFIH1 = MDA5E627X/+Low T1 Diabetesunknownlink
IFNL4dG/TTHigh Hepatitis C virus clearanceunknownlink
IL23RR381Q/+IBD: Crohn’s disease, Ulcerative colitisunknownlink
LRP5G171V/+Extra-strong bonesLow Buoyancylink
LRRTM1unknownAmbidextrousSchizophrenia risklink
MCM6unknownLactose Toleranceunknownlink
miR-29boverproduction(human cells) Low Alzheimer’sunknownlink
MSTN-/-Large, lean muscles, low atherosclerosisunknownlink
MTHFRA222VHigh altitudeunknownlink
NGFoverproduction(human) Low Alzheimer’sunknownlink
NPC1unknownEbola Resistanceunknownlink
NPSR1Y206H/+Less sleepunknownlink
NRF2AA+, C/TEndurance RunningReduced Sprinting abilitylink
NTRK1del/delPain insensitive, no sweatUnnoticed harm, hyperthermialink
OPN1MWunknownTetrachromacyunknownlink
OPN1MW2unknownTetrachromacyunknownlink
PCSK9-/-Low coronary diseaseDiabetes, Low cognitionlink
PDE10Ac/t incr thyroxineBreath-hold divingunknownlink
PKU+/-Ochratoxin resistanceunknownlink
PPARAunknownLow-oxygen resistance (Hyperbaric chamber)unknownlink
PRNPG127VPrion resistanceunknownlink
SCN9A-/-Pain insensitiveUnnoticed harmlink
SGK1unknownProtection against Parkonson’sunknownlink
SLC6A4unknownCoffee more rewardingCaffeine addictionlink
SLC30A8-/+Low T2 Diabetesunknownlink
TAS2R38unknownEnhanced TasteSuper-taste extends to foul foodlink
TBX15/IL-10unknownCold resistance (?)unknownlink

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 will be very happy to correct them right away! Alternatily, you can follow me on Twitter and reach out to me there.

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