Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 27537 | 82834;82835;82836 | chr2:178563523;178563522;178563521 | chr2:179428250;179428249;179428248 |
| N2AB | 25896 | 77911;77912;77913 | chr2:178563523;178563522;178563521 | chr2:179428250;179428249;179428248 |
| N2A | 24969 | 75130;75131;75132 | chr2:178563523;178563522;178563521 | chr2:179428250;179428249;179428248 |
| N2B | 18472 | 55639;55640;55641 | chr2:178563523;178563522;178563521 | chr2:179428250;179428249;179428248 |
| Novex-1 | 18597 | 56014;56015;56016 | chr2:178563523;178563522;178563521 | chr2:179428250;179428249;179428248 |
| Novex-2 | 18664 | 56215;56216;56217 | chr2:178563523;178563522;178563521 | chr2:179428250;179428249;179428248 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
Reported SAVs
| SNV | RS | DUET |
PolyPhen-2 |
Condel |
Rhapsody |
REVEL |
MVP |
Source |
MAF |
Disease |
Zygosity |
Site annotation |
mCSM PPI |
Predicted PPI site |
Comments |
AFR |
AMR |
AMS |
ASJ |
EAS |
EUR |
FIN |
MDE |
NFE |
SAS |
OTH |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | rs555055615  |
-0.75 | 0.999 | N | 0.65 | 0.391 | 0.404870348458 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 6.46E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| G/A | rs555055615 |
-0.75 | 0.999 | N | 0.65 | 0.391 | 0.404870348458 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/A | rs555055615 |
-0.75 | 0.999 | N | 0.65 | 0.391 | 0.404870348458 | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 8E-04 | 0 | None | None | 0 | 0 | None | None | None | 0 | None |
| G/A | rs555055615 |
-0.75 | 0.999 | N | 0.65 | 0.391 | 0.404870348458 | gnomAD-4.0.0 | 6.56927E-06 | None | None | None | None | N | None | 2.40628E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/D | rs555055615 |
-1.561 | 1.0 | N | 0.825 | 0.419 | 0.449283877778 | gnomAD-2.1.1 | 8.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.78E-05 | 0 |
| G/D | rs555055615 |
-1.561 | 1.0 | N | 0.825 | 0.419 | 0.449283877778 | gnomAD-4.0.0 | 6.36511E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.14333E-05 | 0 | 0 |
Saturation Mutagenesis
SAV |
AlphaMissense (IC) |
AlphaMissense Class (IC) |
AlphaMissense (N2AB) |
AlphaMissense Class (N2AB) |
mCSM |
mCSM class |
PolyPhen-2 |
PolyPhen-2 Class |
Rhapsody |
Rhapsody Class |
Condel |
Condel Score |
Site annotation |
mCSM PPI |
Predicted PPI site |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.3396 | likely_benign | 0.3224 | benign | -0.673 | Destabilizing | 0.999 | D | 0.65 | neutral | N | 0.513620061 | None | None | N |
| G/C | 0.3737 | ambiguous | 0.3804 | ambiguous | -0.78 | Destabilizing | 0.953 | D | 0.697 | prob.neutral | D | 0.54325387 | None | None | N |
| G/D | 0.23 | likely_benign | 0.2379 | benign | -1.416 | Destabilizing | 1.0 | D | 0.825 | deleterious | N | 0.490031125 | None | None | N |
| G/E | 0.3697 | ambiguous | 0.377 | ambiguous | -1.569 | Destabilizing | 1.0 | D | 0.883 | deleterious | None | None | None | None | N |
| G/F | 0.7154 | likely_pathogenic | 0.7078 | pathogenic | -1.359 | Destabilizing | 1.0 | D | 0.873 | deleterious | None | None | None | None | N |
| G/H | 0.5379 | ambiguous | 0.5241 | ambiguous | -1.042 | Destabilizing | 1.0 | D | 0.862 | deleterious | None | None | None | None | N |
| G/I | 0.7152 | likely_pathogenic | 0.711 | pathogenic | -0.658 | Destabilizing | 1.0 | D | 0.874 | deleterious | None | None | None | None | N |
| G/K | 0.6941 | likely_pathogenic | 0.6928 | pathogenic | -1.203 | Destabilizing | 1.0 | D | 0.884 | deleterious | None | None | None | None | N |
| G/L | 0.6755 | likely_pathogenic | 0.6662 | pathogenic | -0.658 | Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| G/M | 0.6919 | likely_pathogenic | 0.677 | pathogenic | -0.344 | Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | N |
| G/N | 0.2294 | likely_benign | 0.2218 | benign | -0.748 | Destabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | N |
| G/P | 0.9743 | likely_pathogenic | 0.9749 | pathogenic | -0.628 | Destabilizing | 1.0 | D | 0.893 | deleterious | None | None | None | None | N |
| G/Q | 0.5264 | ambiguous | 0.5105 | ambiguous | -1.115 | Destabilizing | 1.0 | D | 0.883 | deleterious | None | None | None | None | N |
| G/R | 0.6104 | likely_pathogenic | 0.6137 | pathogenic | -0.646 | Destabilizing | 1.0 | D | 0.888 | deleterious | N | 0.50248623 | None | None | N |
| G/S | 0.1659 | likely_benign | 0.1638 | benign | -0.84 | Destabilizing | 1.0 | D | 0.803 | deleterious | N | 0.481290875 | None | None | N |
| G/T | 0.3863 | ambiguous | 0.3589 | ambiguous | -0.948 | Destabilizing | 1.0 | D | 0.873 | deleterious | None | None | None | None | N |
| G/V | 0.5905 | likely_pathogenic | 0.5905 | pathogenic | -0.628 | Destabilizing | 1.0 | D | 0.862 | deleterious | N | 0.519869696 | None | None | N |
| G/W | 0.5587 | ambiguous | 0.5742 | pathogenic | -1.54 | Destabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | N |
| G/Y | 0.5196 | ambiguous | 0.5102 | ambiguous | -1.217 | Destabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | N |
Titin has multiple isoforms, the longest being the theoretical IC (inferred complete) isoform which contains all 363 in-frame titin exons. Here all isoform positions have been mapped onto the IC sequence, with an exception being the C-terminal of the much shorter novex-3 isoform. This contains the out of frame exon 48 which cannot be mapped to the other isoforms.