Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 56 | 391;392;393 | chr2:178802267;178802266;178802265 | chr2:179666994;179666993;179666992 |
| N2AB | 56 | 391;392;393 | chr2:178802267;178802266;178802265 | chr2:179666994;179666993;179666992 |
| N2A | 56 | 391;392;393 | chr2:178802267;178802266;178802265 | chr2:179666994;179666993;179666992 |
| N2B | 56 | 391;392;393 | chr2:178802267;178802266;178802265 | chr2:179666994;179666993;179666992 |
| Novex-1 | 56 | 391;392;393 | chr2:178802267;178802266;178802265 | chr2:179666994;179666993;179666992 |
| Novex-2 | 56 | 391;392;393 | chr2:178802267;178802266;178802265 | chr2:179666994;179666993;179666992 |
| Novex-3 | 56 | 391;392;393 | chr2:178802267;178802266;178802265 | chr2:179666994;179666993;179666992 |
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/L | rs2094107740  |
None | 0.368 | N | 0.325 | 0.387 | 0.479893544335 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | -0.624(TCAP) | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| I/L | rs2094107740 |
None | 0.368 | N | 0.325 | 0.387 | 0.479893544335 | gnomAD-4.0.0 | 6.57497E-06 | None | None | None | -0.624(TCAP) | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.47007E-05 | 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 | 0.8379 | likely_pathogenic | 0.89 | pathogenic | -1.532 | Destabilizing | 0.997 | D | 0.502 | neutral | None | None | None | -0.61(TCAP) | N |
| I/C | 0.9651 | likely_pathogenic | 0.9726 | pathogenic | -1.101 | Destabilizing | 1.0 | D | 0.693 | prob.neutral | None | None | None | 0.11(TCAP) | N |
| I/D | 0.9767 | likely_pathogenic | 0.9889 | pathogenic | -0.773 | Destabilizing | 1.0 | D | 0.768 | deleterious | None | None | None | 0.095(TCAP) | N |
| I/E | 0.9404 | likely_pathogenic | 0.9673 | pathogenic | -0.71 | Destabilizing | 1.0 | D | 0.759 | deleterious | None | None | None | 0.047(TCAP) | N |
| I/F | 0.3259 | likely_benign | 0.3901 | ambiguous | -0.888 | Destabilizing | 0.998 | D | 0.572 | neutral | D | 0.565344046 | None | 0.073(TCAP) | N |
| I/G | 0.9614 | likely_pathogenic | 0.9767 | pathogenic | -1.895 | Destabilizing | 1.0 | D | 0.748 | deleterious | None | None | None | -0.603(TCAP) | N |
| I/H | 0.9101 | likely_pathogenic | 0.9466 | pathogenic | -0.94 | Destabilizing | 1.0 | D | 0.787 | deleterious | None | None | None | 0.317(TCAP) | N |
| I/K | 0.8575 | likely_pathogenic | 0.9105 | pathogenic | -1.015 | Destabilizing | 0.995 | D | 0.76 | deleterious | None | None | None | -0.312(TCAP) | N |
| I/L | 0.24 | likely_benign | 0.2788 | benign | -0.589 | Destabilizing | 0.368 | N | 0.325 | neutral | N | 0.506032827 | None | -0.624(TCAP) | N |
| I/M | 0.2002 | likely_benign | 0.2253 | benign | -0.653 | Destabilizing | 0.995 | D | 0.587 | neutral | N | 0.514422284 | None | -0.152(TCAP) | N |
| I/N | 0.7841 | likely_pathogenic | 0.8621 | pathogenic | -1.015 | Destabilizing | 1.0 | D | 0.783 | deleterious | D | 0.687175869 | None | -0.349(TCAP) | N |
| I/P | 0.977 | likely_pathogenic | 0.9847 | pathogenic | -0.873 | Destabilizing | 1.0 | D | 0.781 | deleterious | None | None | None | -0.62(TCAP) | N |
| I/Q | 0.8676 | likely_pathogenic | 0.9173 | pathogenic | -1.063 | Destabilizing | 1.0 | D | 0.783 | deleterious | None | None | None | -0.199(TCAP) | N |
| I/R | 0.8215 | likely_pathogenic | 0.8871 | pathogenic | -0.543 | Destabilizing | 1.0 | D | 0.784 | deleterious | None | None | None | -0.464(TCAP) | N |
| I/S | 0.8164 | likely_pathogenic | 0.8871 | pathogenic | -1.688 | Destabilizing | 0.999 | D | 0.673 | neutral | D | 0.585323843 | None | -0.163(TCAP) | N |
| I/T | 0.7681 | likely_pathogenic | 0.845 | pathogenic | -1.486 | Destabilizing | 0.985 | D | 0.608 | neutral | N | 0.517584937 | None | -0.198(TCAP) | N |
| I/V | 0.2015 | likely_benign | 0.2301 | benign | -0.873 | Destabilizing | 0.046 | N | 0.208 | neutral | N | 0.488996512 | None | -0.62(TCAP) | N |
| I/W | 0.9428 | likely_pathogenic | 0.9626 | pathogenic | -0.966 | Destabilizing | 1.0 | D | 0.761 | deleterious | None | None | None | 0.15(TCAP) | N |
| I/Y | 0.7735 | likely_pathogenic | 0.8286 | pathogenic | -0.726 | Destabilizing | 0.997 | D | 0.685 | prob.neutral | None | None | None | 0.022(TCAP) | 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.