Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 27565 | 82918;82919;82920 | chr2:178563439;178563438;178563437 | chr2:179428166;179428165;179428164 |
| N2AB | 25924 | 77995;77996;77997 | chr2:178563439;178563438;178563437 | chr2:179428166;179428165;179428164 |
| N2A | 24997 | 75214;75215;75216 | chr2:178563439;178563438;178563437 | chr2:179428166;179428165;179428164 |
| N2B | 18500 | 55723;55724;55725 | chr2:178563439;178563438;178563437 | chr2:179428166;179428165;179428164 |
| Novex-1 | 18625 | 56098;56099;56100 | chr2:178563439;178563438;178563437 | chr2:179428166;179428165;179428164 |
| Novex-2 | 18692 | 56299;56300;56301 | chr2:178563439;178563438;178563437 | chr2:179428166;179428165;179428164 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/Y | rs1408346565  |
-1.176 | 0.999 | N | 0.814 | 0.333 | 0.693611638501 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.91E-06 | 0 |
| C/Y | rs1408346565 |
-1.176 | 0.999 | N | 0.814 | 0.333 | 0.693611638501 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/A | 0.2392 | likely_benign | 0.2461 | benign | -1.039 | Destabilizing | 0.995 | D | 0.506 | neutral | None | None | None | None | N |
| C/D | 0.5702 | likely_pathogenic | 0.5736 | pathogenic | -0.185 | Destabilizing | 0.999 | D | 0.814 | deleterious | None | None | None | None | N |
| C/E | 0.5648 | likely_pathogenic | 0.5565 | ambiguous | -0.171 | Destabilizing | 0.999 | D | 0.797 | deleterious | None | None | None | None | N |
| C/F | 0.1735 | likely_benign | 0.1718 | benign | -0.89 | Destabilizing | 0.999 | D | 0.823 | deleterious | N | 0.492078847 | None | None | N |
| C/G | 0.1375 | likely_benign | 0.1488 | benign | -1.248 | Destabilizing | 0.999 | D | 0.819 | deleterious | N | 0.432126467 | None | None | N |
| C/H | 0.3685 | ambiguous | 0.3619 | ambiguous | -1.511 | Destabilizing | 1.0 | D | 0.792 | deleterious | None | None | None | None | N |
| C/I | 0.3834 | ambiguous | 0.371 | ambiguous | -0.556 | Destabilizing | 0.999 | D | 0.792 | deleterious | None | None | None | None | N |
| C/K | 0.5215 | ambiguous | 0.5235 | ambiguous | -0.365 | Destabilizing | 0.999 | D | 0.816 | deleterious | None | None | None | None | N |
| C/L | 0.3538 | ambiguous | 0.3505 | ambiguous | -0.556 | Destabilizing | 0.998 | D | 0.659 | prob.neutral | None | None | None | None | N |
| C/M | 0.4446 | ambiguous | 0.4317 | ambiguous | -0.063 | Destabilizing | 1.0 | D | 0.776 | deleterious | None | None | None | None | N |
| C/N | 0.3753 | ambiguous | 0.3785 | ambiguous | -0.14 | Destabilizing | 0.999 | D | 0.795 | deleterious | None | None | None | None | N |
| C/P | 0.9601 | likely_pathogenic | 0.9628 | pathogenic | -0.692 | Destabilizing | 0.999 | D | 0.801 | deleterious | None | None | None | None | N |
| C/Q | 0.3456 | ambiguous | 0.3517 | ambiguous | -0.282 | Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | N |
| C/R | 0.2229 | likely_benign | 0.2286 | benign | -0.171 | Destabilizing | 0.999 | D | 0.796 | deleterious | N | 0.373560953 | None | None | N |
| C/S | 0.1557 | likely_benign | 0.1635 | benign | -0.567 | Destabilizing | 0.999 | D | 0.77 | deleterious | N | 0.445151692 | None | None | N |
| C/T | 0.271 | likely_benign | 0.2727 | benign | -0.411 | Destabilizing | 0.999 | D | 0.778 | deleterious | None | None | None | None | N |
| C/V | 0.2858 | likely_benign | 0.2858 | benign | -0.692 | Destabilizing | 0.998 | D | 0.734 | deleterious | None | None | None | None | N |
| C/W | 0.4313 | ambiguous | 0.426 | ambiguous | -0.882 | Destabilizing | 1.0 | D | 0.749 | deleterious | N | 0.511184683 | None | None | N |
| C/Y | 0.2855 | likely_benign | 0.2772 | benign | -0.757 | Destabilizing | 0.999 | D | 0.814 | deleterious | N | 0.510664608 | 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.