KCNQ1 Variant S298N

Summary of observed carriers, functional annotations, and structural context for KCNQ1 S298N. Data combine curated literature, international cohorts, and gnomAD observations.

Estimated LQT1 penetrance

32%

3/11 effective observations

Total carriers

1

0 LQT1 · 1 unaffected

Functional studies

0

Publications with functional data

S298N is present in 1 alleles 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 (%)
-1.61 0.744 1 0.613 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 – 1 1 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 S298N.
Neighbour residue Distance (Å) Observed variants
298 0 S298I, S298N,
297 3 G297S, G297D, G297R,
301 4
300 4 A300T, A300S,
144 6 T144A,
299 6
281 6 Y281C
145 6
302 7 A302V, A302E, A302T,
296 7 F296S, F296L, F296L, F296L,
141 8 V141M,
303 8 L303P,
294 9 V294M,
285 9
143 10 S143F, S143P, S143Y,
142 10
318 10
146 10 E146K, E146G, E146Q,
304 10 W304R, W304R,
277 10 S277L, S277del, S277P, S277W,
140 11 S140G, S140R, S140R, S140R,
231 11 R231C, R231H, R231S,
293 11 R293C, R293H,
147 11 Q147R,
148 11
305 12 W305S, W305L, W305C, W305C, W305R, W305R,
286 12
282 12 L282P,
278 12 Y278H,
306 13 G306V, G306R, G306R,
138 13
149 13
274 14 I274V,
276 14 S276del,
137 14 L137F, L137P,
227 14
228 14
307 14 V307L, V307L,
326 14
279 14 F279I,
273 15 L273F, L273V, L273R,
139 15
321 15
322 15 T322M, T322A, T322K,
308 15 V308F,
320 15 P320H, P320A, P320S,