Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 18053 | 54382;54383;54384 | chr2:178605020;178605019;178605018 | chr2:179469747;179469746;179469745 |
| N2AB | 16412 | 49459;49460;49461 | chr2:178605020;178605019;178605018 | chr2:179469747;179469746;179469745 |
| N2A | 15485 | 46678;46679;46680 | chr2:178605020;178605019;178605018 | chr2:179469747;179469746;179469745 |
| N2B | 8988 | 27187;27188;27189 | chr2:178605020;178605019;178605018 | chr2:179469747;179469746;179469745 |
| Novex-1 | 9113 | 27562;27563;27564 | chr2:178605020;178605019;178605018 | chr2:179469747;179469746;179469745 |
| Novex-2 | 9180 | 27763;27764;27765 | chr2:178605020;178605019;178605018 | chr2:179469747;179469746;179469745 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/P | rs1559718586  |
None | 0.879 | D | 0.514 | 0.334 | 0.239901079897 | gnomAD-2.1.1 | 4.11E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 9.08E-06 | 0 |
| S/P | rs1559718586 |
None | 0.879 | D | 0.514 | 0.334 | 0.239901079897 | gnomAD-4.0.0 | 1.61348E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.90156E-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 | 0.0857 | likely_benign | 0.1001 | benign | -0.296 | Destabilizing | 0.174 | N | 0.342 | neutral | N | 0.514857785 | None | None | I |
| S/C | 0.1706 | likely_benign | 0.1934 | benign | -0.274 | Destabilizing | 0.973 | D | 0.568 | neutral | None | None | None | None | I |
| S/D | 0.4978 | ambiguous | 0.5806 | pathogenic | 0.201 | Stabilizing | 0.575 | D | 0.414 | neutral | None | None | None | None | I |
| S/E | 0.5164 | ambiguous | 0.591 | pathogenic | 0.09 | Stabilizing | 0.575 | D | 0.411 | neutral | None | None | None | None | I |
| S/F | 0.2904 | likely_benign | 0.3406 | ambiguous | -1.071 | Destabilizing | 0.906 | D | 0.644 | neutral | None | None | None | None | I |
| S/G | 0.1307 | likely_benign | 0.1556 | benign | -0.329 | Destabilizing | 0.575 | D | 0.391 | neutral | None | None | None | None | I |
| S/H | 0.3625 | ambiguous | 0.4144 | ambiguous | -0.82 | Destabilizing | 0.991 | D | 0.563 | neutral | None | None | None | None | I |
| S/I | 0.2269 | likely_benign | 0.27 | benign | -0.339 | Destabilizing | 0.704 | D | 0.574 | neutral | None | None | None | None | I |
| S/K | 0.6098 | likely_pathogenic | 0.6958 | pathogenic | -0.268 | Destabilizing | 0.575 | D | 0.413 | neutral | None | None | None | None | I |
| S/L | 0.133 | likely_benign | 0.1569 | benign | -0.339 | Destabilizing | 0.338 | N | 0.573 | neutral | N | 0.517687447 | None | None | I |
| S/M | 0.1832 | likely_benign | 0.2086 | benign | -0.123 | Destabilizing | 0.973 | D | 0.569 | neutral | None | None | None | None | I |
| S/N | 0.1438 | likely_benign | 0.1584 | benign | -0.03 | Destabilizing | 0.575 | D | 0.439 | neutral | None | None | None | None | I |
| S/P | 0.6952 | likely_pathogenic | 0.8442 | pathogenic | -0.302 | Destabilizing | 0.879 | D | 0.514 | neutral | D | 0.524864135 | None | None | I |
| S/Q | 0.4485 | ambiguous | 0.4988 | ambiguous | -0.264 | Destabilizing | 0.906 | D | 0.503 | neutral | None | None | None | None | I |
| S/R | 0.5903 | likely_pathogenic | 0.671 | pathogenic | -0.125 | Destabilizing | 0.826 | D | 0.518 | neutral | None | None | None | None | I |
| S/T | 0.0709 | likely_benign | 0.0776 | benign | -0.151 | Destabilizing | None | N | 0.151 | neutral | N | 0.458196426 | None | None | I |
| S/V | 0.1781 | likely_benign | 0.2197 | benign | -0.302 | Destabilizing | 0.404 | N | 0.567 | neutral | None | None | None | None | I |
| S/W | 0.5309 | ambiguous | 0.6038 | pathogenic | -1.12 | Destabilizing | 0.991 | D | 0.701 | prob.neutral | None | None | None | None | I |
| S/Y | 0.269 | likely_benign | 0.3156 | benign | -0.814 | Destabilizing | 0.906 | D | 0.654 | neutral | None | None | None | None | I |
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.