brugada.net

SCN5A · p.Arg104Gln · computational cardiology

Est. MMXXVI

The site isn’t here yet. The work is.

brugada.net is a personal research and compute project — no product, no launch date, no newsletter. Just a domain quietly holding some computational-cardiology work in progress, and one honest note about the name it carries.

On the workbench

The current preoccupation is SCN5A p.Arg104Gln — “R104Q” — a rare variant in the cardiac sodium channel Nav1.5, tied to Brugada syndrome. What follows is unfinished and unreviewed: figures from an exploration still in progress, printed here as a sign of life, not a result. Some of it is probably wrong.

Ribbon model of the Nav1.5 N-terminal domain with residue R104 highlighted, beside a close-up of its buried salt bridge to D84. — The lead plate
SCN5A p.Arg104Gln (R104Q) in the Nav1.5 N-terminal domain. R104 sits buried, salt-bridged to D84; the substitution strips the guanidinium charge and breaks the bridge.

Two stacked-bar evidence ladders for SCN5A R104Q, reaching the likely-pathogenic and pathogenic thresholds. — I
Where the variant lands on a points-based evidence ladder — likely-pathogenic under conservative weighting, pathogenic under the published calibration.

Dumbbell plot and bar chart comparing the residue-104 microenvironment in wild-type versus R104Q. — II
The microenvironment around residue 104: R104Q breaks the D84 salt bridge and packs a smaller side chain, with fewer partners.

Bar charts showing that the second-site suppressor D84N rescues by removing a buried unpaired charge. — III
A second-site suppressor, D84N — it rescues by removing a buried unpaired charge, not by restoring the lost distance.

Scatter and bar plots of the Nav1.5 pocketome, scoring pocket druggability against distance from the lesion. — IV
The Nav1.5 pocketome: pocket druggability scored against distance from the lesion, with the top candidates ranked.

Plain-language diagram of the therapeutic paths still open for R104Q, each with backups. — V
The paths still open, in plain language — fix the charge (genetic) or a folding-helper drug (chaperone), each with backups.

Log-log plot and bar chart showing chemical-library diversity growing like the square root of size. — VI
What the compute actually buys: diversity grows like √N, so 16× more molecules is only about 4× more scaffolds.

The masthead

Ethan

Editor, sole proprietor, and only staff.

By day, a PTCB-certified pharmacy technician (CPhT) at a high-volume CVS — four to five hundred prescriptions a day of order entry, insurance adjudication, and claim-reject resolution. By night, a self-taught developer building the tools that volume made me wish existed. The overlap is the point: working the queue at speed shows you exactly where pharmacy software breaks.

Lately the search points toward train traffic control — the dispatcher’s desk, where a board full of trains has to be kept moving and kept apart in real time. The same instinct as the pharmacy queue at higher stakes: sequencing, throughput, no room for a sloppy error. Open to that, and to remote work where precision under load is the whole job.

CPhT Tennessee-registered HIPAA-trained FAA Part 107 remote pilot

A note on the name

“brugada.net is a personal research and compute project by Ethan, a pharmacy technician studying SCN5A / Brugada syndrome. If you’re a clinician, researcher, patient organization — or the Brugada family — and would put this name to better public use, email me and I’ll hand it over, no charge.”

onwards.