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SCN5A Variant I1350T

Summary of observed carriers, functional annotations, and structural context for SCN5A I1350T. Data combine curated literature, international cohorts, and gnomAD observations.

Estimated LQT3 penetrance

1%

0/11 effective observations

Estimated BrS1 penetrance

42%

4/11 effective observations

Total carriers

1

1 BrS1 · 0 LQT3 · 0 unaffected

I1350T has not been reported in gnomAD. This residue resides in a Hotspot region for Brugada syndrome and a Non_Hotspot region for LQT3.

Variant features alone are equivalent to phenotyping 3 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 (%)
-4.86 0.994 -3.23 0.959 50 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
12845244 2003 1 0 1 0
Literature, cohort, and gnomAD 1 0 0 1
Variant features alone 15 12 0 3

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

Functional data

Peak and late/persistent current values are relative to wild-type (100% indicates no change). V1/2 activation and inactivation denote the membrane potentials (mV) at which half-maximal current is achieved.

Published electrophysiology measurements.
PubMed ID Year Cell Type Peak Current (% WT) V1/2 Activation (mV) V1/2 Inactivation (mV) Late/Persistent Current (% WT)
12845244 2003

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 I1350T.
Neighbour residue Distance (Å) Observed variants
1355 10
1403 12
1357 10 A1357V,
811 9 R811G, c.2435_2436+3delTGGTAinsCGCCT, R811H,
733 11 F733L,
741 14 p.M741_T742delinsI ,
808 10 R808H, R808P, R808C,
1352 6
1406 11 G1406E, G1406R,
1453 12
1351 6 M1351R, M1351V,
739 14
1449 11 Y1449C, Y1449S,
1452 14
812 7 L812Q,
1350 0 I1350T, I1350L,
1344 12 F1344S, F1344L,
731 8 T731I,
806 14 V806M,
1450 14
818 14
1411 13
1353 5 V1353M,
1407 11
737 7
1410 14
1358 14 G1358R, G1358W,
1348 8 F1348L,
1404 10
1349 4
749 13
1346 6 L1346P, L1346I,
805 14 S805L,
1359 14 K1359M, K1359N,
1341 15
1356 11 c.4066_4068delTT,
1434 15 c.4300-2A>T, c.4299+1G>T, Y1434X, c.4299+1delG, c.4299G>A, c.4300-1G>A, c.4299delG, c.4299+28C>T, c.4299_4300insG, c.4299+2T>A,
728 14 V728I,
1412 11 L1412F,
810 12
727 14
1408 9 G1408R,
735 6 A735T, A735V, A735E,
732 10
734 6 c.2201dupT, M734V,
814 12 R814Q,
807 15
816 12 F816L, F816Y,
1401 13
813 12 c.2436+12G>A, c.2437-5C>A,
1354 6
738 12
1405 7 V1405M, V1405L,
809 9
1409 11 Y1409X, Y1409C,
815 10
1343 11
1345 11 W1345C,
1342 12
736 9 L736P,
730 11 N730K,
753 13
1347 6
729 14 p.L729del,
1402 10
1413 15