SCN5A Variant I891T
Summary of observed carriers, functional annotations, and structural context for SCN5A I891T. Data combine curated literature, international cohorts, and gnomAD observations.
Estimated LQT3 penetrance
1%
0/11 effective observations
Estimated BrS1 penetrance
19%
2/11 effective observations
Total carriers
1
0 BrS1 · 0 LQT3 · 1 unaffected
Variant features alone are equivalent to phenotyping 2 individuals for Brugada syndrome and 0 individuals for LQT3.
In silico predictors
PROVEAN | PolyPhen-2 | BLAST-PSSM | REVEL | Penetrance Density BrS (%) | Penetrance Density LQT3 (%) |
---|---|---|---|---|---|
-3.44 | 0.993 | -1.78 | 0.914 | 23 | 1 |
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
Source | Year | Carriers | Unaffected | LQT3 | BrS1 | Other | Other Disease |
---|---|---|---|---|---|---|---|
Literature, cohort, and gnomAD | – | 1 | 1 | 0 | 0 | – | |
Variant features alone | – | 15 | 13 | 0 | 2 | – | – |
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.
Neighbour residue | Distance (Å) | Observed variants |
---|---|---|
891 | 0 | I891T, I891N, |
880 | 12 | |
888 | 6 | |
848 | 12 | I848F, |
223 | 14 | V223L, |
856 | 10 | V856L, |
890 | 5 | I890T, |
901 | 13 | E901K, S901L, |
919 | 7 | |
862 | 14 | |
896 | 9 | C896S, |
859 | 14 | |
895 | 7 | L895F, |
894 | 5 | I894M, |
1455 | 15 | |
1447 | 12 | |
372 | 14 | |
926 | 9 | |
928 | 14 | L928P, |
925 | 11 | I925F, |
887 | 6 | |
1451 | 12 | V1451L, V1451D, |
886 | 10 | H886P, H886Q, |
851 | 10 | c.2550_2551dupGT, F851L, p.F851CfsX19, c.2552_2553dupGT, |
897 | 10 | G897E, G897R, |
924 | 12 | V924I, |
927 | 11 | N927K, N927S, |
852 | 10 | |
854 | 6 | c.2559delT, |
845 | 14 | c.2533delG, |
1422 | 13 | M1422R, |
857 | 9 | G857D, |
1418 | 14 | |
902 | 9 | |
882 | 15 | |
892 | 6 | F892I, |
881 | 9 | |
849 | 9 | |
898 | 10 | |
893 | 8 | R893H, R893C, |
921 | 11 | |
922 | 6 | V922I, |
860 | 13 | p.L860fsx89, |
920 | 12 | |
889 | 7 | |
900 | 13 | |
930 | 13 | c.2787+17_2787+18insACACACACACACACACACACACA, c.2788-6C>T, |
1459 | 14 | c.4376_4379delTCTT, |
858 | 11 | M858L, |
918 | 9 | |
855 | 10 | |
1425 | 14 | |
917 | 14 | L917V, L917R, |
865 | 14 | |
1454 | 14 | |
916 | 14 | |
929 | 15 | |
1448 | 15 | I1448L, I1448T, |
884 | 10 | |
906 | 12 | |
1421 | 13 | |
885 | 12 | |
847 | 10 | |
846 | 10 | L846R, |
903 | 12 | p.M903CfsX29, |
853 | 6 | |
877 | 15 | |
879 | 11 | W879R, |
923 | 9 | |
883 | 12 | |
905 | 14 | |
915 | 12 | C915R, |
899 | 11 | |
850 | 6 | V850M, c.2549_2550insTG, |
914 | 14 | |
861 | 11 | p.F861WfsX90, c.2582_2583delTT, |
931 | 13 |