Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 32723 | 98392;98393;98394 | chr2:178539898;178539897;178539896 | chr2:179404625;179404624;179404623 |
| N2AB | 31082 | 93469;93470;93471 | chr2:178539898;178539897;178539896 | chr2:179404625;179404624;179404623 |
| N2A | 30155 | 90688;90689;90690 | chr2:178539898;178539897;178539896 | chr2:179404625;179404624;179404623 |
| N2B | 23658 | 71197;71198;71199 | chr2:178539898;178539897;178539896 | chr2:179404625;179404624;179404623 |
| Novex-1 | 23783 | 71572;71573;71574 | chr2:178539898;178539897;178539896 | chr2:179404625;179404624;179404623 |
| Novex-2 | 23850 | 71773;71774;71775 | chr2:178539898;178539897;178539896 | chr2:179404625;179404624;179404623 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/S | rs753058072  |
-1.116 | 0.062 | N | 0.465 | 0.154 | 0.141422826196 | gnomAD-2.1.1 | 8.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 8.88E-06 | 0 |
| R/S | rs753058072 |
-1.116 | 0.062 | N | 0.465 | 0.154 | 0.141422826196 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| R/S | rs753058072 |
-1.116 | 0.062 | N | 0.465 | 0.154 | 0.141422826196 | gnomAD-4.0.0 | 9.29525E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 1.64366E-04 | 6.78093E-06 | 4.39116E-05 | 3.20215E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/A | 0.861 | likely_pathogenic | 0.7921 | pathogenic | -0.373 | Destabilizing | 0.081 | N | 0.477 | neutral | None | None | None | None | N |
| R/C | 0.3597 | ambiguous | 0.278 | benign | -0.431 | Destabilizing | 0.935 | D | 0.537 | neutral | None | None | None | None | N |
| R/D | 0.9615 | likely_pathogenic | 0.9401 | pathogenic | 0.063 | Stabilizing | 0.149 | N | 0.499 | neutral | None | None | None | None | N |
| R/E | 0.8108 | likely_pathogenic | 0.7317 | pathogenic | 0.195 | Stabilizing | 0.035 | N | 0.475 | neutral | None | None | None | None | N |
| R/F | 0.8691 | likely_pathogenic | 0.8074 | pathogenic | -0.166 | Destabilizing | 0.555 | D | 0.536 | neutral | None | None | None | None | N |
| R/G | 0.7937 | likely_pathogenic | 0.7133 | pathogenic | -0.685 | Destabilizing | 0.117 | N | 0.479 | neutral | N | 0.480228377 | None | None | N |
| R/H | 0.1886 | likely_benign | 0.1459 | benign | -1.036 | Destabilizing | 0.001 | N | 0.349 | neutral | None | None | None | None | N |
| R/I | 0.7043 | likely_pathogenic | 0.5702 | pathogenic | 0.456 | Stabilizing | 0.484 | N | 0.537 | neutral | N | 0.470503136 | None | None | N |
| R/K | 0.2346 | likely_benign | 0.1823 | benign | -0.41 | Destabilizing | None | N | 0.282 | neutral | N | 0.442047098 | None | None | N |
| R/L | 0.6418 | likely_pathogenic | 0.5213 | ambiguous | 0.456 | Stabilizing | 0.149 | N | 0.499 | neutral | None | None | None | None | N |
| R/M | 0.7497 | likely_pathogenic | 0.6249 | pathogenic | -0.071 | Destabilizing | 0.791 | D | 0.501 | neutral | None | None | None | None | N |
| R/N | 0.885 | likely_pathogenic | 0.8416 | pathogenic | -0.065 | Destabilizing | 0.149 | N | 0.458 | neutral | None | None | None | None | N |
| R/P | 0.9751 | likely_pathogenic | 0.9628 | pathogenic | 0.202 | Stabilizing | 0.555 | D | 0.503 | neutral | None | None | None | None | N |
| R/Q | 0.2525 | likely_benign | 0.1952 | benign | -0.129 | Destabilizing | 0.016 | N | 0.343 | neutral | None | None | None | None | N |
| R/S | 0.8364 | likely_pathogenic | 0.7768 | pathogenic | -0.67 | Destabilizing | 0.062 | N | 0.465 | neutral | N | 0.464115881 | None | None | N |
| R/T | 0.6887 | likely_pathogenic | 0.5558 | ambiguous | -0.354 | Destabilizing | 0.117 | N | 0.467 | neutral | N | 0.46584389 | None | None | N |
| R/V | 0.7563 | likely_pathogenic | 0.6447 | pathogenic | 0.202 | Stabilizing | 0.38 | N | 0.516 | neutral | None | None | None | None | N |
| R/W | 0.472 | ambiguous | 0.3623 | ambiguous | 0.061 | Stabilizing | 0.935 | D | 0.569 | neutral | None | None | None | None | N |
| R/Y | 0.729 | likely_pathogenic | 0.6326 | pathogenic | 0.379 | Stabilizing | 0.38 | N | 0.521 | 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.