M741K Summary

SCN5A M741K was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. M741K is not present in gnomAD. M741K has been functionally characterized in 0 papers. Other variants at the same resdue are M741I .M741I .M741I .M741K .M741L .M741L .M741R .M741T .M741V .p.M741_T742delinsI . This residue is located in a Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

M741K 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 0.939

M741K has 36 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
733 12.7 F733L F733L F733L
734 13.1
735 11.9 A735E A735T A735V
736 8
737 7
738 6
739 7.1
740 5.6
742 5.2
743 7.2
744 9.6
745 6.8
746 5 E746K
747 10.6
748 9.9
749 8.3
750 11.1
751 13.7 V751I
752 14.2 G752R G752R
753 13.6
808 12.5 R808C
811 14.9 R811H
1350 13.8
1352 14
1353 10.5 V1353M
1354 11.1
1355 14.5
1357 9.8 A1357V
1358 10.5
1359 13.9
1403 10.6
1404 11.7
1405 13.7 V1405L V1405L V1405M
1433 15 G1433W
1434 11.2
1435 13.2