KCNQ1 Variant R181C
Summary of observed carriers, functional annotations, and structural context for KCNQ1 R181C. Data combine curated literature, international cohorts, and gnomAD observations.
Estimated LQT1 penetrance
31%
5/17 effective observations
Total carriers
7
0 LQT1 · 7 unaffected
Functional studies
0
Publications with functional data
Variant features alone are equivalent to phenotyping 5 individuals with LQT1 and 5 unaffected individuals.
In silico predictors
| PROVEAN | PolyPhen-2 | BLAST-PSSM | REVEL | Penetrance Density LQT1 (%) |
|---|---|---|---|---|
| -7.04 | 0.884 | 1 | 0.841 | 49 |
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 |
|---|---|---|---|---|---|
| 22949429 | 2012 | 1 | 1 | None | None |
| 19841300 | 2009 | 1 | 1 | None | None |
| Literature, cohort, and gnomAD | – | 7 | 7 | 0 | – |
| Variant features alone | – | 15 | 5 | 5 | – |
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 |
|---|---|---|
| 181 | 0 | R181C, |
| 184 | 5 | Y184S, Y184C, Y184D, Y184H |
| 180 | 5 | |
| 183 | 5 | K183R, |
| 182 | 5 | |
| 178 | 6 | A178T, A178del, |
| 111 | 6 | Y111C, |
| 179 | 7 | G179S, |
| 177 | 8 | S177F, |
| 193 | 8 | F193L, F193L, F193L, |
| 116 | 9 | |
| 185 | 9 | V185L, V185L, V185M, V185del, |
| 108 | 9 | G108S, |
| 189 | 9 | G189R, G189R, G189E, |
| 115 | 9 | E115A, E115G, |
| 112 | 9 | |
| 190 | 10 | R190W, R190Q, R190L, |
| 244 | 11 | |
| 192 | 11 | R192C, R192H, |
| 186 | 11 | G186R, G186D, |
| 107 | 11 | Q107H, Q107H, |
| 196 | 12 | |
| 188 | 12 | W188C, W188C, W188G, W188S, |
| 110 | 12 | V110I, |
| 175 | 12 | L175I, |
| 174 | 12 | R174H, R174C, R174L, |
| 114 | 12 | |
| 194 | 13 | A194P, A194T, |
| 105 | 13 | |
| 117 | 14 | P117L, |
| 191 | 14 | |
| 176 | 14 | |
| 243 | 14 | R243H, R243C, R243P, R243S, |
| 109 | 14 | R109C, R109L, |
| 106 | 14 | |
| 199 | 14 | S199A, |
| 173 | 14 | |
| 195 | 15 | R195Q, R195W, |
| 104 | 15 | T104A, T104I, |
| 187 | 15 | L187P, L187F, |
| 113 | 15 | |
| 198 | 15 | I198V, I198T, |