Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 188 | 787;788;789 | chr2:178800416;178800415;178800414 | chr2:179665143;179665142;179665141 |
| N2AB | 188 | 787;788;789 | chr2:178800416;178800415;178800414 | chr2:179665143;179665142;179665141 |
| N2A | 188 | 787;788;789 | chr2:178800416;178800415;178800414 | chr2:179665143;179665142;179665141 |
| N2B | 188 | 787;788;789 | chr2:178800416;178800415;178800414 | chr2:179665143;179665142;179665141 |
| Novex-1 | 188 | 787;788;789 | chr2:178800416;178800415;178800414 | chr2:179665143;179665142;179665141 |
| Novex-2 | 188 | 787;788;789 | chr2:178800416;178800415;178800414 | chr2:179665143;179665142;179665141 |
| Novex-3 | 188 | 787;788;789 | chr2:178800416;178800415;178800414 | chr2:179665143;179665142;179665141 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | rs1207248463  |
-0.647 | 0.94 | N | 0.544 | 0.257 | 0.271763555656 | gnomAD-2.1.1 | 3.98E-06 | None | None | None | -1.265(TCAP) | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.8E-06 | 0 |
| T/A | rs1207248463 |
-0.647 | 0.94 | N | 0.544 | 0.257 | 0.271763555656 | gnomAD-4.0.0 | 1.36813E-06 | None | None | None | -1.265(TCAP) | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 1.7337E-04 | 8.993E-07 | 0 | 0 |
| T/I | rs1470901624 |
None | 1.0 | N | 0.814 | 0.492 | 0.645408611234 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | -1.285(TCAP) | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| T/I | rs1470901624 |
None | 1.0 | N | 0.814 | 0.492 | 0.645408611234 | gnomAD-4.0.0 | 2.47829E-06 | None | None | None | -1.285(TCAP) | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.38983E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.1981 | likely_benign | 0.2343 | benign | -0.629 | Destabilizing | 0.94 | D | 0.544 | neutral | N | 0.457527184 | None | -1.265(TCAP) | N |
| T/C | 0.8953 | likely_pathogenic | 0.9096 | pathogenic | -0.297 | Destabilizing | 1.0 | D | 0.79 | deleterious | None | None | None | -0.505(TCAP) | N |
| T/D | 0.8201 | likely_pathogenic | 0.8622 | pathogenic | 0.196 | Stabilizing | 0.999 | D | 0.759 | deleterious | None | None | None | -2.123(TCAP) | N |
| T/E | 0.6695 | likely_pathogenic | 0.7104 | pathogenic | 0.127 | Stabilizing | 1.0 | D | 0.753 | deleterious | None | None | None | -2.175(TCAP) | N |
| T/F | 0.6608 | likely_pathogenic | 0.7166 | pathogenic | -1.081 | Destabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | -0.38(TCAP) | N |
| T/G | 0.6479 | likely_pathogenic | 0.7167 | pathogenic | -0.771 | Destabilizing | 1.0 | D | 0.723 | prob.delet. | None | None | None | -1.275(TCAP) | N |
| T/H | 0.6228 | likely_pathogenic | 0.6475 | pathogenic | -1.173 | Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | -0.295(TCAP) | N |
| T/I | 0.5128 | ambiguous | 0.5875 | pathogenic | -0.365 | Destabilizing | 1.0 | D | 0.814 | deleterious | N | 0.5068163 | None | -1.285(TCAP) | N |
| T/K | 0.5601 | ambiguous | 0.5937 | pathogenic | -0.374 | Destabilizing | 1.0 | D | 0.759 | deleterious | None | None | None | -2.436(TCAP) | N |
| T/L | 0.349 | ambiguous | 0.4119 | ambiguous | -0.365 | Destabilizing | 1.0 | D | 0.679 | prob.neutral | None | None | None | -1.285(TCAP) | N |
| T/M | 0.2113 | likely_benign | 0.2431 | benign | 0.01 | Stabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | 0.009(TCAP) | N |
| T/N | 0.3851 | ambiguous | 0.4513 | ambiguous | -0.124 | Destabilizing | 0.999 | D | 0.695 | prob.neutral | N | 0.465204521 | None | -1.071(TCAP) | N |
| T/P | 0.6485 | likely_pathogenic | 0.7475 | pathogenic | -0.425 | Destabilizing | 0.999 | D | 0.812 | deleterious | N | 0.513555313 | None | -1.269(TCAP) | N |
| T/Q | 0.4839 | ambiguous | 0.5198 | ambiguous | -0.419 | Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | -1.525(TCAP) | N |
| T/R | 0.489 | ambiguous | 0.5248 | ambiguous | -0.136 | Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | -1.835(TCAP) | N |
| T/S | 0.2125 | likely_benign | 0.2364 | benign | -0.404 | Destabilizing | 0.749 | D | 0.398 | neutral | N | 0.374328819 | None | -1.884(TCAP) | N |
| T/V | 0.311 | likely_benign | 0.3533 | ambiguous | -0.425 | Destabilizing | 1.0 | D | 0.596 | neutral | None | None | None | -1.269(TCAP) | N |
| T/W | 0.926 | likely_pathogenic | 0.9424 | pathogenic | -0.998 | Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | 0.024(TCAP) | N |
| T/Y | 0.7339 | likely_pathogenic | 0.7839 | pathogenic | -0.741 | Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | 0.131(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.