missense mutations, rapid progression of HIV

[aquariusgirl]

@JaimeS drew this paper to my attention yonks ago, but I only recently ran my and my mom's data through Genlis.. and now I'm wondering if we have the missense mutations? Snps? mentioned in this paper?

link to paper : https://omim.org/entry/601470


cut and paste from Genlis:
3 39307162 39307162 SNP (x1) G A rs3732378 CX3CR1 CDS MISSENSE T-280-M;T-312-M 13.61 Yes (3.9) Human immunodeficiency virus type 1; rapid progression to AIDS(Pathogenic)&Coronary artery disease; resistance to(Protective)&Age-related macular degeneration 12(Risk factor)&Macular degeneration; age-related; 12; susceptibility to(Risk factor)

3 39307256 39307256 SNP (x1) C T rs3732379 CX3CR1 CDS MISSENSE V-249-I;V-281-I 22.08 no Human immunodeficiency virus type 1; rapid progression to AIDS(Pathogenic)&Coronary artery disease; resistance to(Protective)&Age-related macular degeneration 12(Risk factor)&Macular degeneration; age-related; 12; susceptibility to(Risk factor)


Yes, they are the same..V249I/T280M

 

[JaimeS]

I'm pretty sure I have that mutation, actually. "Rapid progression to AIDS" is not a phrase you forget lightly.

 

[pattismith]

seems that this gene is also important in gut permeability and inflammation