SCN5A Variant E488G

Summary of observed carriers, functional annotations, and structural context for SCN5A E488G. Data combine curated literature, international cohorts, and gnomAD observations.

Estimated LQT3 penetrance

2%

0/10 effective observations

Estimated BrS1 penetrance

6%

0/10 effective observations

Total carriers

0

0 BrS1 · 0 LQT3 · 0 unaffected

E488G 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 0.456 1 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 E488G.
Neighbour residue Distance (Å) Observed variants
473 15 E473X,
474 14 R474G, R474K,
475 14 R475K, R475S, R475S,
476 13
477 13 c.1428_1431delCAAG,
478 12
479 11
480 11 K480N, K480N,
481 10 R481W, R481Q,
482 9 M482I, M482I, M482I,
483 8
484 8
485 7
486 5 T486A, T486S, T486S,
487 4
488 0
489 4
490 5 G490E, G490A,
491 7 E491G,
492 8
493 8 R493K,
494 9
495 10
496 11 K496M, K496N, K496N,
497 11 S497C,
498 12
499 13
500 13 E500K,
501 14 D501G,
502 14
503 15 P503S