Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 1027 | 3304;3305;3306 | chr2:178782827;178782826;178782825 | chr2:179647554;179647553;179647552 |
| N2AB | 1027 | 3304;3305;3306 | chr2:178782827;178782826;178782825 | chr2:179647554;179647553;179647552 |
| N2A | 1027 | 3304;3305;3306 | chr2:178782827;178782826;178782825 | chr2:179647554;179647553;179647552 |
| N2B | 981 | 3166;3167;3168 | chr2:178782827;178782826;178782825 | chr2:179647554;179647553;179647552 |
| Novex-1 | 981 | 3166;3167;3168 | chr2:178782827;178782826;178782825 | chr2:179647554;179647553;179647552 |
| Novex-2 | 981 | 3166;3167;3168 | chr2:178782827;178782826;178782825 | chr2:179647554;179647553;179647552 |
| Novex-3 | 1027 | 3304;3305;3306 | chr2:178782827;178782826;178782825 | chr2:179647554;179647553;179647552 |
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/P | None | None | 1.0 | N | 0.862 | 0.664 | 0.612712675542 | gnomAD-4.0.0 | 3.18567E-06 | None | None | None | None | N | None | 0 | 0 | None | 4.76644E-05 | 0 | None | 0 | 0 | 2.85771E-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 | 0.2555 | likely_benign | 0.2762 | benign | -0.587 | Destabilizing | 0.997 | D | 0.575 | neutral | N | 0.487699439 | None | None | N |
| S/C | 0.6824 | likely_pathogenic | 0.7114 | pathogenic | -0.34 | Destabilizing | 1.0 | D | 0.849 | deleterious | D | 0.551989935 | None | None | N |
| S/D | 0.9404 | likely_pathogenic | 0.9577 | pathogenic | -0.248 | Destabilizing | 0.999 | D | 0.724 | prob.delet. | None | None | None | None | N |
| S/E | 0.9567 | likely_pathogenic | 0.968 | pathogenic | -0.331 | Destabilizing | 0.999 | D | 0.691 | prob.neutral | None | None | None | None | N |
| S/F | 0.7964 | likely_pathogenic | 0.8336 | pathogenic | -1.12 | Destabilizing | 1.0 | D | 0.899 | deleterious | N | 0.515900862 | None | None | N |
| S/G | 0.4802 | ambiguous | 0.5221 | ambiguous | -0.723 | Destabilizing | 0.999 | D | 0.63 | neutral | None | None | None | None | N |
| S/H | 0.885 | likely_pathogenic | 0.904 | pathogenic | -1.297 | Destabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | N |
| S/I | 0.8195 | likely_pathogenic | 0.8527 | pathogenic | -0.35 | Destabilizing | 1.0 | D | 0.876 | deleterious | None | None | None | None | N |
| S/K | 0.9922 | likely_pathogenic | 0.9942 | pathogenic | -0.615 | Destabilizing | 0.999 | D | 0.707 | prob.neutral | None | None | None | None | N |
| S/L | 0.6621 | likely_pathogenic | 0.7023 | pathogenic | -0.35 | Destabilizing | 1.0 | D | 0.806 | deleterious | None | None | None | None | N |
| S/M | 0.7666 | likely_pathogenic | 0.7929 | pathogenic | 0.111 | Stabilizing | 1.0 | D | 0.862 | deleterious | None | None | None | None | N |
| S/N | 0.7174 | likely_pathogenic | 0.7533 | pathogenic | -0.374 | Destabilizing | 0.999 | D | 0.694 | prob.neutral | None | None | None | None | N |
| S/P | 0.9827 | likely_pathogenic | 0.9852 | pathogenic | -0.4 | Destabilizing | 1.0 | D | 0.862 | deleterious | N | 0.516937466 | None | None | N |
| S/Q | 0.9353 | likely_pathogenic | 0.9481 | pathogenic | -0.706 | Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | N |
| S/R | 0.9809 | likely_pathogenic | 0.986 | pathogenic | -0.36 | Destabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | N |
| S/T | 0.2668 | likely_benign | 0.2921 | benign | -0.47 | Destabilizing | 0.999 | D | 0.602 | neutral | N | 0.403565607 | None | None | N |
| S/V | 0.7418 | likely_pathogenic | 0.7819 | pathogenic | -0.4 | Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | N |
| S/W | 0.9122 | likely_pathogenic | 0.9285 | pathogenic | -1.069 | Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | N |
| S/Y | 0.7847 | likely_pathogenic | 0.8132 | pathogenic | -0.814 | Destabilizing | 1.0 | D | 0.898 | deleterious | N | 0.517671498 | 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.