Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 26364 | 79315;79316;79317 | chr2:178567042;178567041;178567040 | chr2:179431769;179431768;179431767 |
| N2AB | 24723 | 74392;74393;74394 | chr2:178567042;178567041;178567040 | chr2:179431769;179431768;179431767 |
| N2A | 23796 | 71611;71612;71613 | chr2:178567042;178567041;178567040 | chr2:179431769;179431768;179431767 |
| N2B | 17299 | 52120;52121;52122 | chr2:178567042;178567041;178567040 | chr2:179431769;179431768;179431767 |
| Novex-1 | 17424 | 52495;52496;52497 | chr2:178567042;178567041;178567040 | chr2:179431769;179431768;179431767 |
| Novex-2 | 17491 | 52696;52697;52698 | chr2:178567042;178567041;178567040 | chr2:179431769;179431768;179431767 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | rs746511599  |
-2.012 | 0.892 | N | 0.489 | 0.339 | 0.566629817802 | gnomAD-2.1.1 | 1.79E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 3.91E-05 | 0 |
| V/A | rs746511599 |
-2.012 | 0.892 | N | 0.489 | 0.339 | 0.566629817802 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
| V/A | rs746511599 |
-2.012 | 0.892 | N | 0.489 | 0.339 | 0.566629817802 | gnomAD-4.0.0 | 1.15324E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.15438E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.4658 | ambiguous | 0.4377 | ambiguous | -1.999 | Destabilizing | 0.892 | D | 0.489 | neutral | N | 0.482696453 | None | None | N |
| V/C | 0.841 | likely_pathogenic | 0.8253 | pathogenic | -1.785 | Destabilizing | 0.999 | D | 0.72 | prob.delet. | None | None | None | None | N |
| V/D | 0.9746 | likely_pathogenic | 0.9713 | pathogenic | -2.841 | Highly Destabilizing | 0.935 | D | 0.734 | prob.delet. | D | 0.523237057 | None | None | N |
| V/E | 0.7245 | likely_pathogenic | 0.7162 | pathogenic | -2.707 | Highly Destabilizing | 0.073 | N | 0.405 | neutral | None | None | None | None | N |
| V/F | 0.6438 | likely_pathogenic | 0.5775 | pathogenic | -1.332 | Destabilizing | 0.983 | D | 0.761 | deleterious | D | 0.525590461 | None | None | N |
| V/G | 0.7482 | likely_pathogenic | 0.7475 | pathogenic | -2.431 | Highly Destabilizing | 0.967 | D | 0.736 | prob.delet. | D | 0.526604419 | None | None | N |
| V/H | 0.9482 | likely_pathogenic | 0.9385 | pathogenic | -2.073 | Highly Destabilizing | 0.997 | D | 0.79 | deleterious | None | None | None | None | N |
| V/I | 0.1269 | likely_benign | 0.1176 | benign | -0.829 | Destabilizing | 0.099 | N | 0.408 | neutral | N | 0.475112356 | None | None | N |
| V/K | 0.793 | likely_pathogenic | 0.7873 | pathogenic | -1.62 | Destabilizing | 0.95 | D | 0.684 | prob.neutral | None | None | None | None | N |
| V/L | 0.7296 | likely_pathogenic | 0.6729 | pathogenic | -0.829 | Destabilizing | 0.63 | D | 0.463 | neutral | N | 0.502229059 | None | None | N |
| V/M | 0.3578 | ambiguous | 0.3242 | benign | -0.938 | Destabilizing | 0.987 | D | 0.593 | neutral | None | None | None | None | N |
| V/N | 0.8923 | likely_pathogenic | 0.8763 | pathogenic | -1.839 | Destabilizing | 0.975 | D | 0.816 | deleterious | None | None | None | None | N |
| V/P | 0.9967 | likely_pathogenic | 0.996 | pathogenic | -1.191 | Destabilizing | 0.987 | D | 0.769 | deleterious | None | None | None | None | N |
| V/Q | 0.6238 | likely_pathogenic | 0.6177 | pathogenic | -1.843 | Destabilizing | 0.95 | D | 0.769 | deleterious | None | None | None | None | N |
| V/R | 0.7288 | likely_pathogenic | 0.7337 | pathogenic | -1.282 | Destabilizing | 0.975 | D | 0.818 | deleterious | None | None | None | None | N |
| V/S | 0.6602 | likely_pathogenic | 0.6409 | pathogenic | -2.368 | Highly Destabilizing | 0.975 | D | 0.683 | prob.neutral | None | None | None | None | N |
| V/T | 0.5115 | ambiguous | 0.5136 | ambiguous | -2.115 | Highly Destabilizing | 0.916 | D | 0.558 | neutral | None | None | None | None | N |
| V/W | 0.9889 | likely_pathogenic | 0.9854 | pathogenic | -1.769 | Destabilizing | 0.999 | D | 0.733 | prob.delet. | None | None | None | None | N |
| V/Y | 0.9414 | likely_pathogenic | 0.92 | pathogenic | -1.43 | Destabilizing | 0.996 | D | 0.762 | 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.