KCNQ1 Variant S177F

Summary of observed carriers, functional annotations, and structural context for KCNQ1 S177F. Data combine curated literature, international cohorts, and gnomAD observations.

Estimated LQT1 penetrance

74%

8/11 effective observations

Total carriers

1

1 LQT1 · 0 unaffected

Functional studies

0

Publications with functional data

S177F 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 (%)
-5.43 1.0 -1 0.936 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 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 S177F.
Neighbour residue Distance (Å) Observed variants
177 0 S177F,
178 4 A178T, A178del,
111 5 Y111C,
107 5 Q107H, Q107H,
179 6 G179S,
110 6 V110I,
180 6
173 6
176 6
175 6 L175I,
108 7 G108S,
174 7 R174H, R174C, R174L,
114 8
190 8 R190W, R190Q, R190L,
115 8 E115A, E115G,
193 8 F193L, F193L, F193L,
181 8 R181C,
112 9
184 9 Y184S, Y184C, Y184D, Y184H
172 9 V172M, V172E,
106 9
113 10
171 10
170 11
109 11 R109C, R109L,
186 11 G186R, G186D,
116 11
185 11 V185L, V185L, V185M, V185del,
189 11 G189R, G189R, G189E,
104 11 T104A, T104I,
182 12
105 12
183 12 K183R,
194 12 A194P, A194T,
169 13 T169M, T169R,
199 13 S199A,
117 13 P117L,
243 13 R243H, R243C, R243P, R243S,
244 13
196 13
168 14 G168R, G168R, G168R, G168R,
187 14 L187P, L187F,
191 14
188 14 W188C, W188C, W188G, W188S,
122 14 C122Y,
202 14 D202N, D202H,
192 14 R192C, R192H,
198 15 I198V, I198T,
125 15
126 15 H126D,