KCNQ1 Variant R190W
Summary of observed carriers, functional annotations, and structural context for KCNQ1 R190W. Data combine curated literature, international cohorts, and gnomAD observations.
Estimated LQT1 penetrance
73%
29/40 effective observations
Total carriers
30
25 LQT1 · 5 unaffected
Functional studies
0
Publications with functional data
Variant features alone are equivalent to phenotyping 4 individuals with LQT1 and 6 unaffected individuals.
In silico predictors
| PROVEAN | PolyPhen-2 | BLAST-PSSM | REVEL | Penetrance Density LQT1 (%) |
|---|---|---|---|---|
| -7.38 | 1.0 | -3 | 0.895 | 57 |
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. BLAST-PSSM reflects evolutionary conservation; more negative values indicate rarer substitutions. Penetrance density summarises neighbouring residue risk (Kroncke et al. 2019).
Reported carrier data
| Source | Year | Carriers | Unaffected | LQT1 | Other Disease |
|---|---|---|---|---|---|
| 32893267 | 2020 | 19 | None | 19 | None |
| 31009818 | 2019 | 1 | 1 | None | None |
| 30758498 | 2019 | 2 | 1 | 1 | None |
| 29978770 | 2018 | 4 | 2 | 2 | HCM in 1 |
| 29677589 | 2018 | None | None | None | None |
| 25825456 | 2016 | 4 | 1 | 3 | LQTS + HCM |
| 25471708 | 2015 | 1 | None | None | JLNS w/ vestibular DFx |
| 24363352 | 2014 | 1 | None | None | None |
| 24218437 | 2013 | 1 | None | 1 | None |
| 23631430 | 2013 | 1 | None | None | None |
| 22539601 | 2012 | 1 | None | None | None |
| 19490272 | 2009 | 1 | None | 1 | None |
| 17192539 | 2006 | 1 | None | 1 | None |
| Literature, cohort, and gnomAD | – | 30 | 5 | 25 | – |
| Variant features alone | – | 15 | 6 | 4 | – |
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 |
|---|---|---|
| 190 | 0 | R190W, R190Q, R190L, |
| 186 | 5 | G186R, G186D, |
| 189 | 5 | G189R, G189R, G189E, |
| 175 | 5 | L175I, |
| 178 | 5 | A178T, A178del, |
| 187 | 6 | L187P, L187F, |
| 193 | 6 | F193L, F193L, F193L, |
| 191 | 7 | |
| 185 | 7 | V185L, V185L, V185M, V185del, |
| 184 | 7 | Y184S, Y184C, Y184D, Y184H |
| 179 | 7 | G179S, |
| 188 | 8 | W188C, W188C, W188G, W188S, |
| 177 | 8 | S177F, |
| 176 | 8 | |
| 194 | 8 | A194P, A194T, |
| 192 | 9 | R192C, R192H, |
| 172 | 10 | V172M, V172E, |
| 180 | 10 | |
| 181 | 10 | R181C, |
| 183 | 10 | K183R, |
| 171 | 10 | |
| 173 | 11 | |
| 182 | 11 | |
| 174 | 11 | R174H, R174C, R174L, |
| 195 | 11 | R195Q, R195W, |
| 111 | 11 | Y111C, |
| 107 | 11 | Q107H, Q107H, |
| 199 | 12 | S199A, |
| 196 | 12 | |
| 115 | 13 | E115A, E115G, |
| 110 | 13 | V110I, |
| 108 | 13 | G108S, |
| 114 | 14 | |
| 203 | 14 | L203P, |
| 200 | 14 | |
| 170 | 15 | |
| 168 | 15 | G168R, G168R, G168R, G168R, |
| 202 | 15 | D202N, D202H, |