Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 4687 | 14284;14285;14286 | chr2:178739174;178739173;178739172 | chr2:179603901;179603900;179603899 |
| N2AB | 4370 | 13333;13334;13335 | chr2:178739174;178739173;178739172 | chr2:179603901;179603900;179603899 |
| N2A | None | None | chr2:None | chr2:None |
| N2B | 4324 | 13195;13196;13197 | chr2:178739174;178739173;178739172 | chr2:179603901;179603900;179603899 |
| Novex-1 | 4449 | 13570;13571;13572 | chr2:178739174;178739173;178739172 | chr2:179603901;179603900;179603899 |
| Novex-2 | 4516 | 13771;13772;13773 | chr2:178739174;178739173;178739172 | chr2:179603901;179603900;179603899 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/P | rs1291988238  |
None | 0.055 | N | 0.467 | 0.075 | None | 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 |
| A/T | None | None | None | N | 0.155 | 0.11 | None | gnomAD-4.0.0 | 1.88892E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 2.01743E-05 | 0 | 0 | 0 | 0 |
| A/V | None | None | 0.001 | N | 0.209 | 0.067 | None | gnomAD-4.0.0 | 7.33699E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.3863E-07 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.4015 | ambiguous | 0.4048 | ambiguous | -0.713 | Destabilizing | 0.356 | N | 0.459 | neutral | None | None | None | None | N |
| A/D | 0.245 | likely_benign | 0.2858 | benign | -0.793 | Destabilizing | 0.016 | N | 0.445 | neutral | None | None | None | None | N |
| A/E | 0.156 | likely_benign | 0.1859 | benign | -0.923 | Destabilizing | None | N | 0.263 | neutral | N | 0.434227662 | None | None | N |
| A/F | 0.2601 | likely_benign | 0.2926 | benign | -1.0 | Destabilizing | 0.214 | N | 0.582 | neutral | None | None | None | None | N |
| A/G | 0.1496 | likely_benign | 0.1581 | benign | -0.645 | Destabilizing | 0.012 | N | 0.349 | neutral | N | 0.51116012 | None | None | N |
| A/H | 0.3577 | ambiguous | 0.388 | ambiguous | -0.765 | Destabilizing | 0.356 | N | 0.509 | neutral | None | None | None | None | N |
| A/I | 0.198 | likely_benign | 0.2138 | benign | -0.391 | Destabilizing | 0.038 | N | 0.461 | neutral | None | None | None | None | N |
| A/K | 0.2225 | likely_benign | 0.2477 | benign | -0.929 | Destabilizing | None | N | 0.271 | neutral | None | None | None | None | N |
| A/L | 0.1555 | likely_benign | 0.1823 | benign | -0.391 | Destabilizing | 0.006 | N | 0.385 | neutral | None | None | None | None | N |
| A/M | 0.1747 | likely_benign | 0.1961 | benign | -0.329 | Destabilizing | 0.007 | N | 0.335 | neutral | None | None | None | None | N |
| A/N | 0.2026 | likely_benign | 0.2277 | benign | -0.517 | Destabilizing | 0.038 | N | 0.492 | neutral | None | None | None | None | N |
| A/P | 0.5628 | ambiguous | 0.6665 | pathogenic | -0.398 | Destabilizing | 0.055 | N | 0.467 | neutral | N | 0.511977946 | None | None | N |
| A/Q | 0.2176 | likely_benign | 0.245 | benign | -0.797 | Destabilizing | 0.003 | N | 0.333 | neutral | None | None | None | None | N |
| A/R | 0.1877 | likely_benign | 0.2149 | benign | -0.444 | Destabilizing | 0.038 | N | 0.483 | neutral | None | None | None | None | N |
| A/S | 0.0818 | likely_benign | 0.0839 | benign | -0.73 | Destabilizing | None | N | 0.185 | neutral | N | 0.344466617 | None | None | N |
| A/T | 0.0706 | likely_benign | 0.0718 | benign | -0.781 | Destabilizing | None | N | 0.155 | neutral | N | 0.381920567 | None | None | N |
| A/V | 0.1164 | likely_benign | 0.1225 | benign | -0.398 | Destabilizing | 0.001 | N | 0.209 | neutral | N | 0.477773784 | None | None | N |
| A/W | 0.6301 | likely_pathogenic | 0.6679 | pathogenic | -1.194 | Destabilizing | 0.864 | D | 0.531 | neutral | None | None | None | None | N |
| A/Y | 0.3577 | ambiguous | 0.3789 | ambiguous | -0.84 | Destabilizing | 0.356 | N | 0.575 | neutral | 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.