Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 35613 | 107062;107063;107064 | chr2:178528914;178528913;178528912 | chr2:179393641;179393640;179393639 |
| N2AB | 33972 | 102139;102140;102141 | chr2:178528914;178528913;178528912 | chr2:179393641;179393640;179393639 |
| N2A | 33045 | 99358;99359;99360 | chr2:178528914;178528913;178528912 | chr2:179393641;179393640;179393639 |
| N2B | 26548 | 79867;79868;79869 | chr2:178528914;178528913;178528912 | chr2:179393641;179393640;179393639 |
| Novex-1 | 26673 | 80242;80243;80244 | chr2:178528914;178528913;178528912 | chr2:179393641;179393640;179393639 |
| Novex-2 | 26740 | 80443;80444;80445 | chr2:178528914;178528913;178528912 | chr2:179393641;179393640;179393639 |
| 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/A | rs374405802  |
-0.742 | 0.267 | N | 0.341 | 0.111 | None | gnomAD-2.1.1 | 5.7E-05 | None | None | None | None | N | None | 4.13E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.16937E-04 | 0 |
| S/A | rs374405802 |
-0.742 | 0.267 | N | 0.341 | 0.111 | None | gnomAD-3.1.2 | 5.25E-05 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.02881E-04 | 0 | 0 |
| S/A | rs374405802 |
-0.742 | 0.267 | N | 0.341 | 0.111 | None | gnomAD-4.0.0 | 3.09802E-05 | None | None | None | None | N | None | 2.6683E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 4.06816E-05 | 0 | 0 |
| S/P | rs374405802 |
-0.657 | 0.966 | N | 0.619 | 0.31 | 0.351830644314 | gnomAD-2.1.1 | 8.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.77E-05 | 0 |
| S/P | rs374405802 |
-0.657 | 0.966 | N | 0.619 | 0.31 | 0.351830644314 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
| S/P | rs374405802 |
-0.657 | 0.966 | N | 0.619 | 0.31 | 0.351830644314 | gnomAD-4.0.0 | 1.97052E-05 | None | None | None | None | N | None | 2.41115E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 2.93945E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.1118 | likely_benign | 0.1106 | benign | -0.37 | Destabilizing | 0.267 | N | 0.341 | neutral | N | 0.475070033 | None | None | N |
| S/C | 0.2609 | likely_benign | 0.2148 | benign | -0.277 | Destabilizing | 0.997 | D | 0.579 | neutral | N | 0.476283542 | None | None | N |
| S/D | 0.6073 | likely_pathogenic | 0.5956 | pathogenic | 0.05 | Stabilizing | 0.842 | D | 0.497 | neutral | None | None | None | None | N |
| S/E | 0.707 | likely_pathogenic | 0.6916 | pathogenic | -0.031 | Destabilizing | 0.842 | D | 0.429 | neutral | None | None | None | None | N |
| S/F | 0.3648 | ambiguous | 0.3491 | ambiguous | -0.839 | Destabilizing | 0.966 | D | 0.619 | neutral | N | 0.475936825 | None | None | N |
| S/G | 0.1505 | likely_benign | 0.1398 | benign | -0.515 | Destabilizing | 0.688 | D | 0.423 | neutral | None | None | None | None | N |
| S/H | 0.4987 | ambiguous | 0.4842 | ambiguous | -0.992 | Destabilizing | 0.037 | N | 0.391 | neutral | None | None | None | None | N |
| S/I | 0.3699 | ambiguous | 0.3407 | ambiguous | -0.119 | Destabilizing | 0.728 | D | 0.576 | neutral | None | None | None | None | N |
| S/K | 0.841 | likely_pathogenic | 0.8291 | pathogenic | -0.592 | Destabilizing | 0.067 | N | 0.193 | neutral | None | None | None | None | N |
| S/L | 0.1778 | likely_benign | 0.1634 | benign | -0.119 | Destabilizing | 0.525 | D | 0.522 | neutral | None | None | None | None | N |
| S/M | 0.434 | ambiguous | 0.4031 | ambiguous | 0.09 | Stabilizing | 0.974 | D | 0.601 | neutral | None | None | None | None | N |
| S/N | 0.2708 | likely_benign | 0.2688 | benign | -0.293 | Destabilizing | 0.842 | D | 0.467 | neutral | None | None | None | None | N |
| S/P | 0.268 | likely_benign | 0.233 | benign | -0.172 | Destabilizing | 0.966 | D | 0.619 | neutral | N | 0.472122942 | None | None | N |
| S/Q | 0.661 | likely_pathogenic | 0.655 | pathogenic | -0.533 | Destabilizing | 0.949 | D | 0.568 | neutral | None | None | None | None | N |
| S/R | 0.7396 | likely_pathogenic | 0.7281 | pathogenic | -0.362 | Destabilizing | 0.728 | D | 0.578 | neutral | None | None | None | None | N |
| S/T | 0.1322 | likely_benign | 0.1237 | benign | -0.382 | Destabilizing | 0.051 | N | 0.171 | neutral | N | 0.475243392 | None | None | N |
| S/V | 0.3538 | ambiguous | 0.3276 | benign | -0.172 | Destabilizing | 0.016 | N | 0.421 | neutral | None | None | None | None | N |
| S/W | 0.5433 | ambiguous | 0.5145 | ambiguous | -0.847 | Destabilizing | 0.998 | D | 0.621 | neutral | None | None | None | None | N |
| S/Y | 0.3182 | likely_benign | 0.2951 | benign | -0.582 | Destabilizing | 0.934 | D | 0.625 | neutral | N | 0.476110183 | 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.