Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 34317 | 103174;103175;103176 | chr2:178533666;178533665;178533664 | chr2:179398393;179398392;179398391 |
| N2AB | 32676 | 98251;98252;98253 | chr2:178533666;178533665;178533664 | chr2:179398393;179398392;179398391 |
| N2A | 31749 | 95470;95471;95472 | chr2:178533666;178533665;178533664 | chr2:179398393;179398392;179398391 |
| N2B | 25252 | 75979;75980;75981 | chr2:178533666;178533665;178533664 | chr2:179398393;179398392;179398391 |
| Novex-1 | 25377 | 76354;76355;76356 | chr2:178533666;178533665;178533664 | chr2:179398393;179398392;179398391 |
| Novex-2 | 25444 | 76555;76556;76557 | chr2:178533666;178533665;178533664 | chr2:179398393;179398392;179398391 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/R | rs745933614  |
-0.423 | 0.026 | N | 0.467 | 0.29 | 0.194818534648 | gnomAD-2.1.1 | 2.01E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.78552E-04 | None | 0 | None | 0 | 0 | 0 |
| Q/R | rs745933614 |
-0.423 | 0.026 | N | 0.467 | 0.29 | 0.194818534648 | gnomAD-4.0.0 | 6.84159E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.26723E-04 | None | 0 | 0 | 0 | 0 | 1.6564E-05 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/A | 0.5446 | ambiguous | 0.4979 | ambiguous | -0.856 | Destabilizing | 0.919 | D | 0.575 | neutral | None | None | None | None | N |
| Q/C | 0.8484 | likely_pathogenic | 0.8451 | pathogenic | -0.374 | Destabilizing | 0.999 | D | 0.789 | deleterious | None | None | None | None | N |
| Q/D | 0.9347 | likely_pathogenic | 0.918 | pathogenic | -1.33 | Destabilizing | 0.959 | D | 0.58 | neutral | None | None | None | None | N |
| Q/E | 0.2443 | likely_benign | 0.22 | benign | -1.115 | Destabilizing | 0.78 | D | 0.542 | neutral | N | 0.427198729 | None | None | N |
| Q/F | 0.9108 | likely_pathogenic | 0.8896 | pathogenic | -0.322 | Destabilizing | 0.996 | D | 0.797 | deleterious | None | None | None | None | N |
| Q/G | 0.7803 | likely_pathogenic | 0.756 | pathogenic | -1.294 | Destabilizing | 0.959 | D | 0.644 | neutral | None | None | None | None | N |
| Q/H | 0.6081 | likely_pathogenic | 0.5586 | ambiguous | -1.005 | Destabilizing | 0.984 | D | 0.612 | neutral | N | 0.486401748 | None | None | N |
| Q/I | 0.6208 | likely_pathogenic | 0.5826 | pathogenic | 0.314 | Stabilizing | 0.988 | D | 0.785 | deleterious | None | None | None | None | N |
| Q/K | 0.3969 | ambiguous | 0.3326 | benign | -0.375 | Destabilizing | 0.64 | D | 0.584 | neutral | N | 0.463023456 | None | None | N |
| Q/L | 0.3312 | likely_benign | 0.3188 | benign | 0.314 | Stabilizing | 0.896 | D | 0.644 | neutral | N | 0.476454113 | None | None | N |
| Q/M | 0.5402 | ambiguous | 0.5375 | ambiguous | 0.615 | Stabilizing | 0.996 | D | 0.617 | neutral | None | None | None | None | N |
| Q/N | 0.7436 | likely_pathogenic | 0.7058 | pathogenic | -1.137 | Destabilizing | 0.919 | D | 0.574 | neutral | None | None | None | None | N |
| Q/P | 0.9816 | likely_pathogenic | 0.9808 | pathogenic | -0.047 | Destabilizing | 0.995 | D | 0.663 | neutral | N | 0.493214428 | None | None | N |
| Q/R | 0.3587 | ambiguous | 0.3024 | benign | -0.477 | Destabilizing | 0.026 | N | 0.467 | neutral | N | 0.463370172 | None | None | N |
| Q/S | 0.5384 | ambiguous | 0.5019 | ambiguous | -1.345 | Destabilizing | 0.919 | D | 0.55 | neutral | None | None | None | None | N |
| Q/T | 0.4178 | ambiguous | 0.4149 | ambiguous | -0.924 | Destabilizing | 0.959 | D | 0.611 | neutral | None | None | None | None | N |
| Q/V | 0.4726 | ambiguous | 0.4437 | ambiguous | -0.047 | Destabilizing | 0.988 | D | 0.656 | neutral | None | None | None | None | N |
| Q/W | 0.8957 | likely_pathogenic | 0.8879 | pathogenic | -0.252 | Destabilizing | 0.999 | D | 0.742 | deleterious | None | None | None | None | N |
| Q/Y | 0.8264 | likely_pathogenic | 0.786 | pathogenic | 0.06 | Stabilizing | 0.996 | D | 0.7 | prob.neutral | 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.