SNPs for PST Enzyme mutations?

[bigmillz]

Anybody happen to know the SNP mutations for the PST enzyme (SULT1A1)?

Or able to give a brief crash course on reading this to extract the info: https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?rs=rs1042157

 

[Valentijn]

Anybody happen to know the SNP mutations for the PST enzyme (SULT1A1)?

OMIM and Uniprot are the best places to find lists of pathogenic mutations. For SULT1A1 that would be at http://www.omim.org/entry/171150 and http://www.uniprot.org/uniprot/P50225

Or able to give a brief crash course on reading this to extract the info: https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?rs=rs1042157

If you hover over the light blue box in the map view, links to two research papers will appear, and you can click on those to read the abstracts or full papers. That particular SNP is very common and probably doesn't do much, though it is in a somewhat sensitive area of the gene.

 

[bigmillz]

OMIM and Uniprot are the best places to find lists of pathogenic mutations. For SULT1A1 that would be at http://www.omim.org/entry/171150 and http://www.uniprot.org/uniprot/P50225


If you hover over the light blue box in the map view, links to two research papers will appear, and you can click on those to read the abstracts or full papers. That particular SNP is very common and probably doesn't do much, though it is in a somewhat sensitive area of the gene.

Very helpful - this is what I was looking for. A lot of the ASD people are really interested in this, but they don't have any info on testing for it. Just "a lot of ASD people seem to have this and therefore you should try the following..."

Appreciate it.