KCNQ1 Variant D286G

Summary of observed carriers, functional annotations, and structural context for KCNQ1 D286G. Data combine curated literature, international cohorts, and gnomAD observations.

Estimated LQT1 penetrance

37%

3/10 effective observations

Total carriers

0

0 LQT1 · 0 unaffected

Functional studies

0

Publications with functional data

D286G has not been reported in gnomAD. This residue resides in a Hotspot region for LQT1.

Variant features alone are equivalent to phenotyping 3 individuals with LQT1 and 7 unaffected individuals.

In silico predictors

Variant-level computational predictors.
PROVEAN PolyPhen-2 BLAST-PSSM REVEL Penetrance Density LQT1 (%)
-6.24 0.978 2 0.882 41

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

Observed carriers by publication or cohort.
Source Year Carriers Unaffected LQT1 Other Disease
Literature, cohort, and gnomAD – 0 0 0 –
Variant features alone – 15 7 3 –

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.

Previously observed variants near D286G.
Neighbour residue Distance (Å) Observed variants
286 0
285 4
287 5 A287E, A287T, A287S,
283 7 A283G, A283T,
284 7 E284K,
288 8
281 8 Y281C
294 8 V294M,
282 9 L282P,
297 9 G297S, G297D, G297R,
322 10 T322M, T322A, T322K,
296 10 F296S, F296L, F296L, F296L,
228 11
295 11
321 11
280 11 V280A, V280E,
324 12
298 12 S298I, S298N,
227 12
289 12
325 12 G325R, G325R, G325E, G325W,
144 13 T144A,
320 13 P320H, P320A, P320S,
224 13 T224M,
323 13
231 14 R231C, R231H, R231S,
302 14 A302V, A302E, A302T,
292 14 G292D,
278 14 Y278H,
223 14
299 14
279 14 F279I,
318 15
290 15 E290K,
146 15 E146K, E146G, E146Q,
326 15