SCN5A Variant M482K

Summary of observed carriers, functional annotations, and structural context for SCN5A M482K. Data combine curated literature, international cohorts, and gnomAD observations.

Estimated LQT3 penetrance

0/10 effective observations

Estimated BrS1 penetrance

0/10 effective observations

Total carriers

0 BrS1 · 0 LQT3 · 0 unaffected

M482K has not been reported in gnomAD. This residue resides in a Non_Hotspot region for Brugada syndrome and a Non_Hotspot region for LQT3.

Variant features alone are equivalent to phenotyping 0 individuals for Brugada syndrome and 0 individuals for LQT3.

In silico predictors

Variant-level computational predictors.
PROVEAN	PolyPhen-2	BLAST-PSSM	REVEL	Penetrance Density BrS (%)	Penetrance Density LQT3 (%)
NA	NA	NA	0.283	2	0

PROVEAN scores below -2 suggest deleterious impact. REVEL scores above 0.5–0.75 are often interpreted as likely pathogenic. PolyPhen-2 scores above 0.85 are typically pathogenic. Penetrance density summarises neighbouring residue risk (Kroncke et al. 2019).

Reported carrier data

Observed carriers by publication or cohort.
Source	Year	Carriers	Unaffected	LQT3	BrS1	Other	Other Disease
Literature, cohort, and gnomAD	–	0	0	0	0		–
Variant features alone	–	15	15	0	0	–	–

Totals may differ from individual publications due to duplicate patients removed during curation.

Nearby variants

Neighbouring residues within 15 Ångström provide structural context. Variants listed in the right-most column have been observed clinically or in gnomAD.

Previously observed variants near M482K.
Neighbour residue	Distance (Å)	Observed variants
467	15
468	14	P468L,
469	14	V469I,
470	13	N470K,
471	13
472	12
473	11	E473X,
474	11	R474G, R474K,
475	10	R475K, R475S,
476	9
477	8	c.1428_1431delCAAG
478	8
479	7
480	5	K480N,
481	4	R481Q, R481W,
482	0	M482I,
483	4
484	5
485	7
486	8	T486S, T486A,
487	8
488	9
489	10
490	11	G490E, G490A,
491	11	E491G,
492	12
493	13	R493K,
494	13
495	14
496	14	K496N, K496M,
497	15	S497C,