Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 20376 | 61351;61352;61353 | chr2:178590599;178590598;178590597 | chr2:179455326;179455325;179455324 |
| N2AB | 18735 | 56428;56429;56430 | chr2:178590599;178590598;178590597 | chr2:179455326;179455325;179455324 |
| N2A | 17808 | 53647;53648;53649 | chr2:178590599;178590598;178590597 | chr2:179455326;179455325;179455324 |
| N2B | 11311 | 34156;34157;34158 | chr2:178590599;178590598;178590597 | chr2:179455326;179455325;179455324 |
| Novex-1 | 11436 | 34531;34532;34533 | chr2:178590599;178590598;178590597 | chr2:179455326;179455325;179455324 |
| Novex-2 | 11503 | 34732;34733;34734 | chr2:178590599;178590598;178590597 | chr2:179455326;179455325;179455324 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/T | rs1366424798  |
-1.759 | 0.978 | N | 0.69 | 0.348 | 0.370608029945 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.29E-05 | None | 0 | 0 | 0 |
| I/T | rs1366424798 |
-1.759 | 0.978 | N | 0.69 | 0.348 | 0.370608029945 | gnomAD-4.0.0 | 7.96813E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 7.1804E-05 | 0 |
| I/V | None | None | 0.198 | N | 0.203 | 0.123 | 0.21279746466 | gnomAD-4.0.0 | 1.5936E-06 | None | None | None | None | N | None | 0 | 2.29106E-05 | None | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/A | 0.4797 | ambiguous | 0.3662 | ambiguous | -1.788 | Destabilizing | 0.983 | D | 0.638 | neutral | None | None | None | None | N |
| I/C | 0.7378 | likely_pathogenic | 0.6912 | pathogenic | -0.908 | Destabilizing | 1.0 | D | 0.701 | prob.neutral | None | None | None | None | N |
| I/D | 0.917 | likely_pathogenic | 0.834 | pathogenic | -1.467 | Destabilizing | 0.999 | D | 0.799 | deleterious | None | None | None | None | N |
| I/E | 0.8183 | likely_pathogenic | 0.7078 | pathogenic | -1.44 | Destabilizing | 0.999 | D | 0.797 | deleterious | None | None | None | None | N |
| I/F | 0.4009 | ambiguous | 0.2996 | benign | -1.198 | Destabilizing | 0.997 | D | 0.635 | neutral | N | 0.480133844 | None | None | N |
| I/G | 0.7433 | likely_pathogenic | 0.6279 | pathogenic | -2.138 | Highly Destabilizing | 0.999 | D | 0.781 | deleterious | None | None | None | None | N |
| I/H | 0.8243 | likely_pathogenic | 0.7144 | pathogenic | -1.426 | Destabilizing | 1.0 | D | 0.781 | deleterious | None | None | None | None | N |
| I/K | 0.7477 | likely_pathogenic | 0.6193 | pathogenic | -1.369 | Destabilizing | 0.999 | D | 0.791 | deleterious | None | None | None | None | N |
| I/L | 0.161 | likely_benign | 0.1317 | benign | -0.88 | Destabilizing | 0.798 | D | 0.378 | neutral | N | 0.414236926 | None | None | N |
| I/M | 0.1712 | likely_benign | 0.1461 | benign | -0.598 | Destabilizing | 0.997 | D | 0.625 | neutral | N | 0.443213039 | None | None | N |
| I/N | 0.5294 | ambiguous | 0.3848 | ambiguous | -1.168 | Destabilizing | 0.999 | D | 0.801 | deleterious | N | 0.436767069 | None | None | N |
| I/P | 0.9343 | likely_pathogenic | 0.8991 | pathogenic | -1.153 | Destabilizing | 0.999 | D | 0.802 | deleterious | None | None | None | None | N |
| I/Q | 0.6837 | likely_pathogenic | 0.5582 | ambiguous | -1.317 | Destabilizing | 0.999 | D | 0.794 | deleterious | None | None | None | None | N |
| I/R | 0.6824 | likely_pathogenic | 0.5387 | ambiguous | -0.764 | Destabilizing | 0.999 | D | 0.798 | deleterious | None | None | None | None | N |
| I/S | 0.4752 | ambiguous | 0.3594 | ambiguous | -1.73 | Destabilizing | 0.997 | D | 0.747 | deleterious | N | 0.376409257 | None | None | N |
| I/T | 0.4357 | ambiguous | 0.334 | benign | -1.592 | Destabilizing | 0.978 | D | 0.69 | prob.neutral | N | 0.41098319 | None | None | N |
| I/V | 0.0808 | likely_benign | 0.0706 | benign | -1.153 | Destabilizing | 0.198 | N | 0.203 | neutral | N | 0.363944179 | None | None | N |
| I/W | 0.9244 | likely_pathogenic | 0.8833 | pathogenic | -1.347 | Destabilizing | 1.0 | D | 0.733 | prob.delet. | None | None | None | None | N |
| I/Y | 0.7695 | likely_pathogenic | 0.6865 | pathogenic | -1.134 | Destabilizing | 0.999 | D | 0.747 | 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.