Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 30540 | 91843;91844;91845 | chr2:178550220;178550219;178550218 | chr2:179414947;179414946;179414945 |
| N2AB | 28899 | 86920;86921;86922 | chr2:178550220;178550219;178550218 | chr2:179414947;179414946;179414945 |
| N2A | 27972 | 84139;84140;84141 | chr2:178550220;178550219;178550218 | chr2:179414947;179414946;179414945 |
| N2B | 21475 | 64648;64649;64650 | chr2:178550220;178550219;178550218 | chr2:179414947;179414946;179414945 |
| Novex-1 | 21600 | 65023;65024;65025 | chr2:178550220;178550219;178550218 | chr2:179414947;179414946;179414945 |
| Novex-2 | 21667 | 65224;65225;65226 | chr2:178550220;178550219;178550218 | chr2:179414947;179414946;179414945 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/F | rs770769474  |
-1.076 | 0.773 | N | 0.451 | 0.407 | 0.410071178582 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | I | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| S/F | rs770769474 |
-1.076 | 0.773 | N | 0.451 | 0.407 | 0.410071178582 | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | I | None | 0 | 1.31199E-04 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| S/F | rs770769474 |
-1.076 | 0.773 | N | 0.451 | 0.407 | 0.410071178582 | gnomAD-4.0.0 | 4.33875E-06 | None | None | None | None | I | None | 0 | 6.67089E-05 | None | 0 | 0 | None | 0 | 0 | 2.54309E-06 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.0459 | likely_benign | 0.0553 | benign | -0.392 | Destabilizing | None | N | 0.085 | neutral | N | 0.33616764 | None | None | I |
| S/C | 0.1053 | likely_benign | 0.1137 | benign | -0.286 | Destabilizing | 0.773 | D | 0.355 | neutral | N | 0.489243612 | None | None | I |
| S/D | 0.6351 | likely_pathogenic | 0.7171 | pathogenic | 0.061 | Stabilizing | 0.388 | N | 0.279 | neutral | None | None | None | None | I |
| S/E | 0.5941 | likely_pathogenic | 0.6955 | pathogenic | -0.023 | Destabilizing | 0.388 | N | 0.276 | neutral | None | None | None | None | I |
| S/F | 0.3388 | likely_benign | 0.4872 | ambiguous | -0.884 | Destabilizing | 0.773 | D | 0.451 | neutral | N | 0.499497891 | None | None | I |
| S/G | 0.1015 | likely_benign | 0.1156 | benign | -0.532 | Destabilizing | 0.116 | N | 0.301 | neutral | None | None | None | None | I |
| S/H | 0.5035 | ambiguous | 0.5832 | pathogenic | -1.04 | Destabilizing | 0.932 | D | 0.351 | neutral | None | None | None | None | I |
| S/I | 0.2529 | likely_benign | 0.3272 | benign | -0.151 | Destabilizing | 0.388 | N | 0.457 | neutral | None | None | None | None | I |
| S/K | 0.758 | likely_pathogenic | 0.8255 | pathogenic | -0.56 | Destabilizing | 0.388 | N | 0.269 | neutral | None | None | None | None | I |
| S/L | 0.1709 | likely_benign | 0.222 | benign | -0.151 | Destabilizing | 0.116 | N | 0.395 | neutral | None | None | None | None | I |
| S/M | 0.2409 | likely_benign | 0.2909 | benign | 0.12 | Stabilizing | 0.818 | D | 0.355 | neutral | None | None | None | None | I |
| S/N | 0.2205 | likely_benign | 0.2403 | benign | -0.279 | Destabilizing | 0.563 | D | 0.389 | neutral | None | None | None | None | I |
| S/P | 0.4113 | ambiguous | 0.5498 | ambiguous | -0.201 | Destabilizing | 0.492 | N | 0.403 | neutral | N | 0.433254256 | None | None | I |
| S/Q | 0.527 | ambiguous | 0.6165 | pathogenic | -0.541 | Destabilizing | 0.818 | D | 0.339 | neutral | None | None | None | None | I |
| S/R | 0.6883 | likely_pathogenic | 0.7782 | pathogenic | -0.338 | Destabilizing | 0.388 | N | 0.411 | neutral | None | None | None | None | I |
| S/T | 0.1081 | likely_benign | 0.1368 | benign | -0.386 | Destabilizing | 0.09 | N | 0.366 | neutral | N | 0.444836687 | None | None | I |
| S/V | 0.1703 | likely_benign | 0.2469 | benign | -0.201 | Destabilizing | 0.116 | N | 0.401 | neutral | None | None | None | None | I |
| S/W | 0.542 | ambiguous | 0.6747 | pathogenic | -0.875 | Destabilizing | 0.981 | D | 0.505 | neutral | None | None | None | None | I |
| S/Y | 0.2854 | likely_benign | 0.3841 | ambiguous | -0.607 | Destabilizing | 0.912 | D | 0.449 | neutral | N | 0.488723537 | None | None | I |
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.