H738Y Summary

SCN5A H738Y was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. H738Y is not present in gnomAD. H738Y has been functionally characterized in 0 papers. Other variants at the same resdue are H738D .H738L .H738N .H738P .H738Q .H738Q .H738R .H738Y . This residue is located in a Hotspot region for BrS1 and in a Mild_Hotspot region for Long QT syndrome.

H738Y 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 0.932

H738Y has 44 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
732 14
733 13.4 F733L F733L F733L
734 13
735 9.7 A735E A735T A735V
736 6.3
737 7
739 4.6
740 4.7
741 6
742 8.1
743 11.9
744 12.9
745 9
746 10.6 E746K
748 12.7
749 11.3
808 14.8 R808C
1349 12.7
1350 11.9
1352 11.9
1353 8.5 V1353M
1354 11.3
1355 13.7
1356 13.1
1357 8 A1357V
1358 9
1359 12.6
1360 13.5
1361 14.8
1397 12.1
1398 14.9 V1398M
1400 15
1401 10.6
1402 11.1
1403 5.9
1404 6.1
1405 9.1 V1405L V1405L V1405M
1406 10.6 G1406E G1406R G1406R
1407 10.4
1408 11.7 G1408R G1408R
1434 12
1435 14.8
1723 13.8 T1723N
1724 13.3