KCNQ1 Variant A208V
Summary of observed carriers, functional annotations, and structural context for KCNQ1 A208V. Data combine curated literature, international cohorts, and gnomAD observations.
Estimated LQT1 penetrance
21%
2/11 effective observations
Total carriers
1
0 LQT1 · 1 unaffected
Functional studies
0
Publications with functional data
Variant features alone are equivalent to phenotyping 2 individuals with LQT1 and 8 unaffected individuals.
In silico predictors
| PROVEAN | PolyPhen-2 | BLAST-PSSM | REVEL | Penetrance Density LQT1 (%) |
|---|---|---|---|---|
| -3.51 | 0.991 | -2 | 0.897 | 23 |
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 |
|---|---|---|---|---|---|
| Literature, cohort, and gnomAD | – | 1 | 1 | 0 | – |
| Variant features alone | – | 15 | 8 | 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 |
|---|---|---|
| 208 | 0 | A208V, |
| 209 | 4 | S209P, |
| 207 | 4 | V207M, V207L, V207L, V207L, V207L, V207del, |
| 211 | 5 | |
| 205 | 6 | V205M, |
| 212 | 6 | |
| 210 | 6 | M210I, M210I, M210I, |
| 206 | 6 | V206L, |
| 233 | 7 | L233P, |
| 204 | 7 | I204M, I204F, |
| 229 | 8 | G229D, |
| 213 | 8 | |
| 230 | 8 | |
| 203 | 9 | L203P, |
| 225 | 9 | S225L, S225del, |
| 164 | 9 | |
| 226 | 9 | A226V, |
| 214 | 9 | C214Y, |
| 232 | 10 | |
| 221 | 10 | |
| 237 | 10 | |
| 236 | 10 | L236Q, L236R, |
| 160 | 11 | E160del, E160K, E160V, |
| 215 | 11 | V215M, V215G, V215L, V215L |
| 201 | 11 | I201del, |
| 202 | 11 | D202N, D202H, |
| 234 | 11 | Q234H, Q234H, |
| 161 | 12 | |
| 216 | 12 | G216R, |
| 167 | 12 | |
| 222 | 12 | |
| 168 | 12 | G168R, G168R, G168R, G168R, |
| 228 | 12 | |
| 224 | 12 | T224M, |
| 200 | 13 | |
| 165 | 13 | V165M, |
| 227 | 13 | |
| 163 | 13 | |
| 235 | 13 | I235N, |
| 231 | 13 | R231C, R231H, R231S, |
| 240 | 13 | H240R, H240P, |
| 171 | 13 | |
| 157 | 14 | F157C, |
| 223 | 14 | |
| 199 | 14 | S199A, |
| 219 | 14 | G219E, |
| 162 | 15 | V162M, |
| 239 | 15 |