Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 25371 | 76336;76337;76338 | chr2:178570021;178570020;178570019 | chr2:179434748;179434747;179434746 |
| N2AB | 23730 | 71413;71414;71415 | chr2:178570021;178570020;178570019 | chr2:179434748;179434747;179434746 |
| N2A | 22803 | 68632;68633;68634 | chr2:178570021;178570020;178570019 | chr2:179434748;179434747;179434746 |
| N2B | 16306 | 49141;49142;49143 | chr2:178570021;178570020;178570019 | chr2:179434748;179434747;179434746 |
| Novex-1 | 16431 | 49516;49517;49518 | chr2:178570021;178570020;178570019 | chr2:179434748;179434747;179434746 |
| Novex-2 | 16498 | 49717;49718;49719 | chr2:178570021;178570020;178570019 | chr2:179434748;179434747;179434746 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/A | None | None | 0.999 | N | 0.632 | 0.551 | 0.415820034956 | gnomAD-4.0.0 | 6.84443E-07 | None | None | None | None | N | None | 0 | 2.23724E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| E/K | rs755460020  |
-0.148 | 0.999 | N | 0.703 | 0.362 | 0.427368086475 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.6E-05 | None | 0 | None | 0 | 0 | 0 |
| E/K | rs755460020 |
-0.148 | 0.999 | N | 0.703 | 0.362 | 0.427368086475 | gnomAD-4.0.0 | 3.18516E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.55895E-05 | None | 0 | 0 | 0 | 0 | 0 |
| E/Q | None | None | 1.0 | N | 0.681 | 0.381 | 0.371344866733 | gnomAD-4.0.0 | 1.59258E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.77948E-05 | None | 0 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/A | 0.2762 | likely_benign | 0.2422 | benign | -0.663 | Destabilizing | 0.999 | D | 0.632 | neutral | N | 0.487863197 | None | None | N |
| E/C | 0.9318 | likely_pathogenic | 0.9192 | pathogenic | -0.218 | Destabilizing | 1.0 | D | 0.635 | neutral | None | None | None | None | N |
| E/D | 0.3636 | ambiguous | 0.3154 | benign | -0.882 | Destabilizing | 0.999 | D | 0.587 | neutral | N | 0.499476673 | None | None | N |
| E/F | 0.9467 | likely_pathogenic | 0.927 | pathogenic | -0.606 | Destabilizing | 1.0 | D | 0.597 | neutral | None | None | None | None | N |
| E/G | 0.3707 | ambiguous | 0.3316 | benign | -0.93 | Destabilizing | 1.0 | D | 0.586 | neutral | N | 0.509769795 | None | None | N |
| E/H | 0.8049 | likely_pathogenic | 0.7568 | pathogenic | -0.793 | Destabilizing | 1.0 | D | 0.627 | neutral | None | None | None | None | N |
| E/I | 0.6506 | likely_pathogenic | 0.5989 | pathogenic | 0.031 | Stabilizing | 1.0 | D | 0.609 | neutral | None | None | None | None | N |
| E/K | 0.3241 | likely_benign | 0.2923 | benign | -0.371 | Destabilizing | 0.999 | D | 0.703 | prob.neutral | N | 0.490398092 | None | None | N |
| E/L | 0.7329 | likely_pathogenic | 0.6915 | pathogenic | 0.031 | Stabilizing | 1.0 | D | 0.603 | neutral | None | None | None | None | N |
| E/M | 0.7545 | likely_pathogenic | 0.6989 | pathogenic | 0.402 | Stabilizing | 1.0 | D | 0.571 | neutral | None | None | None | None | N |
| E/N | 0.5716 | likely_pathogenic | 0.501 | ambiguous | -0.59 | Destabilizing | 1.0 | D | 0.691 | prob.neutral | None | None | None | None | N |
| E/P | 0.4586 | ambiguous | 0.4137 | ambiguous | -0.179 | Destabilizing | 1.0 | D | 0.594 | neutral | None | None | None | None | N |
| E/Q | 0.2319 | likely_benign | 0.1974 | benign | -0.543 | Destabilizing | 1.0 | D | 0.681 | prob.neutral | N | 0.478307772 | None | None | N |
| E/R | 0.4894 | ambiguous | 0.4551 | ambiguous | -0.192 | Destabilizing | 1.0 | D | 0.683 | prob.neutral | None | None | None | None | N |
| E/S | 0.4227 | ambiguous | 0.3658 | ambiguous | -0.817 | Destabilizing | 0.999 | D | 0.695 | prob.neutral | None | None | None | None | N |
| E/T | 0.4767 | ambiguous | 0.431 | ambiguous | -0.616 | Destabilizing | 1.0 | D | 0.628 | neutral | None | None | None | None | N |
| E/V | 0.4584 | ambiguous | 0.4214 | ambiguous | -0.179 | Destabilizing | 1.0 | D | 0.587 | neutral | N | 0.502768356 | None | None | N |
| E/W | 0.9823 | likely_pathogenic | 0.975 | pathogenic | -0.497 | Destabilizing | 1.0 | D | 0.637 | neutral | None | None | None | None | N |
| E/Y | 0.9164 | likely_pathogenic | 0.8916 | pathogenic | -0.399 | Destabilizing | 1.0 | D | 0.571 | 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.