A242G Summary

SCN5A A242G was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. A242G is not present in gnomAD. A242G has been functionally characterized in 0 papers. Other variants at the same resdue are A242D .A242G .A242P .A242S .A242T .A242V . This residue is located in a Non_Hotspot region for BrS1 and in a Hotspot region for Long QT syndrome.

A242G Predictions

PROVEAN scores less than -2 are considered deleterious. REVEL scores higher than 0.5 or 0.75 is considered likely pathogenic (higher sensitivity with the former cutoff, higher specificity with the latter cutoff). A PolyPhen-2 score of 0.85 or greater is considered likely pathogenic. PAM scores reflect the chemistry difference between WT and variant amino acid (more negative being greater difference between the two). BLAST-PSSM reflects the evolutionary conservation of residue substitutions, more negative numbers indicate fewer observations of the specific substitution than is expected.

SIFT Sift Score PROVEAN Score Polyphen2 Polyphen2 Score eaRate blastPssm pamScore REVEL
NA NA NA NA NA NA NA NA 0.936

A242G has 62 neighbors within 15 ångströms that have been found in individuals.

A residue within a folded protein on average has nearest neighbors that fall roughly into two shells: a "nearest" neighbor around 5-6 angstroms and a second shell around 11 angstroms.

ResidueNumber Distance(Å) Variants
193 14
230 12.5 I230T I230V
231 14.9
233 13.6
235 11.4
236 10
237 9
238 6.7
239 5.3 I239V I239V
240 5.7 V240M
241 3.3
243 4.1
244 5.6
245 5.6 Q245K
246 5.4
247 8.5 V247L V247L
248 9.6
249 9.3
250 11.7
251 14.9
408 13.1
409 12.8 L409V
410 12.7
411 10.1 V411M
412 7.6
413 9.3 A413T
414 9.9
415 5.8
416 6.4 Y416C
417 10.3
418 8.5
419 6.4
420 9.4
421 12.8
422 11.3
423 11.6
838 12.4
839 14.5 L839P
840 14.6
841 12 N841K N841K
842 10.2
843 14.3
844 14.9
845 11
846 13.5
849 13.6
924 14 V924I
925 12
926 12.9
927 14.9 N927S
928 13.4
929 8.7
930 9.6
931 13.3
932 11.6
933 7.2
934 13
935 13.4
936 10.3
937 11.4
939 14.6
940 13.4