KCNQ1 Variant K183R

Summary of observed carriers, functional annotations, and structural context for KCNQ1 K183R. Data combine curated literature, international cohorts, and gnomAD observations.

Estimated LQT1 penetrance

69%

7/11 effective observations

Total carriers

1

1 LQT1 · 0 unaffected

Functional studies

0

Publications with functional data

K183R has not been reported in gnomAD. This residue resides in a Hotspot region for LQT1.

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

In silico predictors

Variant-level computational predictors.
PROVEAN PolyPhen-2 BLAST-PSSM REVEL Penetrance Density LQT1 (%)
-1.93 0.356 1 0.819 79

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
Literature, cohort, and gnomAD – 1 0 1 –
Variant features alone – 15 4 6 –

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 K183R.
Neighbour residue Distance (Å) Observed variants
183 0 K183R,
184 4 Y184S, Y184C, Y184D, Y184H
181 5 R181C,
182 5
192 6 R192C, R192H,
189 7 G189R, G189R, G189E,
185 8 V185L, V185L, V185M, V185del,
193 8 F193L, F193L, F193L,
188 8 W188C, W188C, W188G, W188S,
178 9 A178T, A178del,
179 9 G179S,
180 10
196 10
190 10 R190W, R190Q, R190L,
186 10 G186R, G186D,
111 11 Y111C,
195 11 R195Q, R195W,
191 11
194 11 A194P, A194T,
177 12 S177F,
244 12
116 13
115 13 E115A, E115G,
187 13 L187P, L187F,
175 13 L175I,
199 14 S199A,
197 14 P197L,
108 14 G108S,
112 14
174 15 R174H, R174C, R174L,
198 15 I198V, I198T,