Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 34998 | 105217;105218;105219 | chr2:178531623;178531622;178531621 | chr2:179396350;179396349;179396348 |
| N2AB | 33357 | 100294;100295;100296 | chr2:178531623;178531622;178531621 | chr2:179396350;179396349;179396348 |
| N2A | 32430 | 97513;97514;97515 | chr2:178531623;178531622;178531621 | chr2:179396350;179396349;179396348 |
| N2B | 25933 | 78022;78023;78024 | chr2:178531623;178531622;178531621 | chr2:179396350;179396349;179396348 |
| Novex-1 | 26058 | 78397;78398;78399 | chr2:178531623;178531622;178531621 | chr2:179396350;179396349;179396348 |
| Novex-2 | 26125 | 78598;78599;78600 | chr2:178531623;178531622;178531621 | chr2:179396350;179396349;179396348 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | None | None | 0.835 | N | 0.433 | 0.262 | 0.369867359543 | gnomAD-4.0.0 | 1.59091E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85755E-06 | 0 | 0 |
| T/I | rs397517794  |
None | 0.994 | N | 0.614 | 0.564 | 0.579924211245 | gnomAD-4.0.0 | 3.1818E-06 | None | None | None | None | N | None | 5.65227E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.02334E-05 |
| T/N | rs397517794 |
None | 0.961 | N | 0.551 | 0.412 | 0.491317756052 | gnomAD-4.0.0 | 1.5909E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85755E-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 | 0.2697 | likely_benign | 0.3561 | ambiguous | -1.177 | Destabilizing | 0.835 | D | 0.433 | neutral | N | 0.516092723 | None | None | N |
| T/C | 0.738 | likely_pathogenic | 0.7992 | pathogenic | -0.82 | Destabilizing | 1.0 | D | 0.671 | neutral | None | None | None | None | N |
| T/D | 0.9011 | likely_pathogenic | 0.9509 | pathogenic | -1.73 | Destabilizing | 0.97 | D | 0.579 | neutral | None | None | None | None | N |
| T/E | 0.7861 | likely_pathogenic | 0.8821 | pathogenic | -1.465 | Destabilizing | 0.97 | D | 0.57 | neutral | None | None | None | None | N |
| T/F | 0.6143 | likely_pathogenic | 0.7449 | pathogenic | -0.726 | Destabilizing | 0.999 | D | 0.729 | prob.delet. | None | None | None | None | N |
| T/G | 0.7201 | likely_pathogenic | 0.7949 | pathogenic | -1.631 | Destabilizing | 0.97 | D | 0.569 | neutral | None | None | None | None | N |
| T/H | 0.6109 | likely_pathogenic | 0.7241 | pathogenic | -1.623 | Destabilizing | 1.0 | D | 0.725 | prob.delet. | None | None | None | None | N |
| T/I | 0.4265 | ambiguous | 0.536 | ambiguous | 0.042 | Stabilizing | 0.994 | D | 0.614 | neutral | N | 0.49666483 | None | None | N |
| T/K | 0.6966 | likely_pathogenic | 0.8231 | pathogenic | -0.312 | Destabilizing | 0.97 | D | 0.576 | neutral | None | None | None | None | N |
| T/L | 0.2521 | likely_benign | 0.3396 | benign | 0.042 | Stabilizing | 0.985 | D | 0.521 | neutral | None | None | None | None | N |
| T/M | 0.1533 | likely_benign | 0.2026 | benign | -0.185 | Destabilizing | 1.0 | D | 0.679 | prob.neutral | None | None | None | None | N |
| T/N | 0.4717 | ambiguous | 0.6032 | pathogenic | -1.224 | Destabilizing | 0.961 | D | 0.551 | neutral | N | 0.521191899 | None | None | N |
| T/P | 0.8697 | likely_pathogenic | 0.9376 | pathogenic | -0.335 | Destabilizing | 0.994 | D | 0.615 | neutral | N | 0.511641987 | None | None | N |
| T/Q | 0.5824 | likely_pathogenic | 0.7027 | pathogenic | -0.852 | Destabilizing | 0.996 | D | 0.66 | neutral | None | None | None | None | N |
| T/R | 0.6373 | likely_pathogenic | 0.7793 | pathogenic | -0.7 | Destabilizing | 0.996 | D | 0.645 | neutral | None | None | None | None | N |
| T/S | 0.2884 | likely_benign | 0.3858 | ambiguous | -1.434 | Destabilizing | 0.287 | N | 0.291 | neutral | N | 0.443613763 | None | None | N |
| T/V | 0.338 | likely_benign | 0.3992 | ambiguous | -0.335 | Destabilizing | 0.985 | D | 0.509 | neutral | None | None | None | None | N |
| T/W | 0.8776 | likely_pathogenic | 0.9243 | pathogenic | -0.958 | Destabilizing | 1.0 | D | 0.723 | prob.delet. | None | None | None | None | N |
| T/Y | 0.669 | likely_pathogenic | 0.7724 | pathogenic | -0.523 | Destabilizing | 0.999 | D | 0.736 | prob.delet. | 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.