KCNQ1 Variant T322K

Summary of observed carriers, functional annotations, and structural context for KCNQ1 T322K. Data combine curated literature, international cohorts, and gnomAD observations.

Estimated LQT1 penetrance

82%

9/12 effective observations

Total carriers

2

2 LQT1 · 0 unaffected

Functional studies

0

Publications with functional data

T322K 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 (%)
-5.36 1.0 -3 0.946 88

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 2 None 2 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 T322K.
Neighbour residue Distance (Å) Observed variants
322 0 T322M, T322A, T322K,
325 5 G325R, G325R, G325E, G325W,
324 5
284 5 E284K,
321 5
326 5
323 6
283 6 A283G, A283T,
287 7 A287E, A287T, A287S,
327 8 T327A, T327S, T327S,
328 9 I328del,
286 10
288 10
282 10 L282P,
329 10 A329T,
285 11
279 12 F279I,
290 12 E290K,
330 12
304 13 W304R, W304R,
301 13
318 13
276 13 S276del,
317 14 D317N, D317G, D317Y,
331 14
278 14 Y278H,
300 14 A300T, A300S,
295 14
296 14 F296S, F296L, F296L, F296L,
332 14
305 14 W305S, W305L, W305C, W305C, W305R, W305R
302 15 A302V, A302E, A302T,
298 15 S298I, S298N,