KCNQ1 Variant D301G

Summary of observed carriers, functional annotations, and structural context for KCNQ1 D301G. Data combine curated literature, international cohorts, and gnomAD observations.

Estimated LQT1 penetrance

43%

4/10 effective observations

Total carriers

0

0 LQT1 · 0 unaffected

Functional studies

0

Publications with functional data

D301G has not been reported in gnomAD. This residue resides in a Hotspot region for LQT1.

Variant features alone are equivalent to phenotyping 4 individuals with LQT1 and 6 unaffected individuals.

In silico predictors

Variant-level computational predictors.
PROVEAN PolyPhen-2 BLAST-PSSM REVEL Penetrance Density LQT1 (%)
-6.23 1.0 -2 0.911 47

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 6 4 –

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 D301G.
Neighbour residue Distance (Å) Observed variants
301 0
300 4 A300T, A300S,
298 4 S298I, S298N,
302 5 A302V, A302E, A302T,
297 6 G297S, G297D, G297R,
303 7 L303P,
299 7
281 8 Y281C
277 9 S277L, S277del, S277P, S277W,
145 10
144 10 T144A,
141 10 V141M,
293 10 R293C, R293H,
296 10 F296S, F296L, F296L, F296L,
285 11
295 11
320 12 P320H, P320A, P320S,
319 12 V319L, V319L,
284 12 E284K,
142 13
280 13 V280A, V280E,
321 13
273 13 L273F, L273V, L273R,
278 13 Y278H,
274 13 I274V,
143 13 S143F, S143P, S143Y,
140 13 S140G, S140R, S140R, S140R,
294 13 V294M,
282 13 L282P,
306 14 G306V, G306R, G306R,
146 14 E146K, E146G, E146Q,
231 14 R231C, R231H, R231S,
326 14
325 14 G325R, G325R, G325E, G325W,
147 14 Q147R,
322 14 T322M, T322A, T322K,
287 14 A287E, A287T, A287S,
304 14 W304R, W304R,
289 14
148 14
283 14 A283G, A283T,
138 15
329 15 A329T,
309 15 T309I, T309R,