KCNQ1 Variant L282P

Summary of observed carriers, functional annotations, and structural context for KCNQ1 L282P. Data combine curated literature, international cohorts, and gnomAD observations.

Estimated LQT1 penetrance

77%

9/12 effective observations

Total carriers

2

2 LQT1 · 0 unaffected

Functional studies

0

Publications with functional data

L282P has not been reported in gnomAD. This residue resides in a Hotspot region for LQT1.

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

In silico predictors

Variant-level computational predictors.
PROVEAN PolyPhen-2 BLAST-PSSM REVEL Penetrance Density LQT1 (%)
-6.7 1.0 -3 0.967 81

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
32893267 2020 1 None 1 None
19716085 2009 1 None 1 None
Literature, cohort, and gnomAD – 2 0 2 –
Variant features alone – 15 3 7 –

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 L282P.
Neighbour residue Distance (Å) Observed variants
282 0 L282P,
283 4 A283G, A283T,
278 6 Y278H,
279 6 F279I,
281 6 Y281C
280 7 V280A, V280E,
228 7
285 7
284 8 E284K,
286 9
324 9
231 9 R231C, R231H, R231S,
325 9 G325R, G325R, G325E, G325W,
328 9 I328del,
277 9 S277L, S277del, S277P, S277W,
232 10
229 10 G229D,
299 10
276 10 S276del,
322 10 T322M, T322A, T322K,
296 10 F296S, F296L, F296L, F296L,
227 10
302 11 A302V, A302E, A302T,
287 11 A287E, A287T, A287S,
275 11 F275del,
225 11 S225L, S225del,
297 12 G297S, G297D, G297R,
224 12 T224M,
298 12 S298I, S298N,
144 12 T144A,
323 12
320 12 P320H, P320A, P320S,
235 12 I235N,
332 13
329 13 A329T,
226 13 A226V,
230 13
303 13 L303P,
274 13 I274V,
301 13
233 13 L233P,
295 13
321 14
223 14
294 14 V294M,
140 14 S140G, S140R, S140R, S140R,
234 14 Q234H, Q234H,
141 14 V141M,
273 14 L273F, L273V, L273R,
236 14 L236Q, L236R,
306 14 G306V, G306R, G306R,
331 14
272 15 G272D, G272S, G272V,
288 15
305 15 W305S, W305L, W305C, W305C, W305R, W305R,