SCN5A Variant R1944Q
Summary of observed carriers, functional annotations, and structural context for SCN5A R1944Q. Data combine curated literature, international cohorts, and gnomAD observations.
Estimated LQT3 penetrance
2%
0/19 effective observations
Estimated BrS1 penetrance
2%
0/19 effective observations
Total carriers
9
0 BrS1 · 0 LQT3 · 9 unaffected
Variant features alone are equivalent to phenotyping 0 individuals for Brugada syndrome and 0 individuals for LQT3.
In silico predictors
| PROVEAN | PolyPhen-2 | BLAST-PSSM | REVEL | Penetrance Density BrS (%) | Penetrance Density LQT3 (%) |
|---|---|---|---|---|---|
| -0.94 | 0 | 1.46 | 0.243 | 0 | 2 |
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 | – | 9 | 9 | 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.
| Neighbour residue | Distance (Å) | Observed variants |
|---|---|---|
| 1929 | 15 | R1929C, R1929H, |
| 1930 | 14 | Q1930H, |
| 1931 | 14 | |
| 1932 | 13 | A1932V, |
| 1933 | 13 | G1933A, G1933D, G1933V, |
| 1934 | 12 | |
| 1935 | 11 | G1935S, |
| 1936 | 11 | |
| 1937 | 10 | S1937A, |
| 1938 | 9 | E1938X, E1938K, |
| 1939 | 8 | p.E1939_E1943del, |
| 1940 | 8 | |
| 1941 | 7 | |
| 1942 | 5 | P1942H, P1942S |
| 1943 | 4 | |
| 1944 | 0 | R1944X, R1944Q, |
| 1945 | 4 | |
| 1946 | 5 | |
| 1947 | 7 | |
| 1948 | 8 | I1948V, |
| 1949 | 8 | A1949T, A1949S, |
| 1950 | 9 | Y1950C, |
| 1951 | 10 | V1951M, V1951L, |
| 1952 | 11 | |
| 1953 | 11 | p.S1953RfsX84, |
| 1954 | 12 | E1954K, |
| 1955 | 13 | N1955Y, |
| 1956 | 13 | |
| 1957 | 14 | S1957P, |
| 1958 | 14 | R1958Q, R1958X, R1958P, |
| 1959 | 15 |