Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 16684 | 50275;50276;50277 | chr2:178612475;178612474;178612473 | chr2:179477202;179477201;179477200 |
| N2AB | 15043 | 45352;45353;45354 | chr2:178612475;178612474;178612473 | chr2:179477202;179477201;179477200 |
| N2A | 14116 | 42571;42572;42573 | chr2:178612475;178612474;178612473 | chr2:179477202;179477201;179477200 |
| N2B | 7619 | 23080;23081;23082 | chr2:178612475;178612474;178612473 | chr2:179477202;179477201;179477200 |
| Novex-1 | 7744 | 23455;23456;23457 | chr2:178612475;178612474;178612473 | chr2:179477202;179477201;179477200 |
| Novex-2 | 7811 | 23656;23657;23658 | chr2:178612475;178612474;178612473 | chr2:179477202;179477201;179477200 |
| 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/I | rs1303563982  |
-0.092 | 1.0 | N | 0.825 | 0.481 | 0.490489133298 | gnomAD-2.1.1 | 4.08E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 9.09E-06 | 0 |
| T/I | rs1303563982 |
-0.092 | 1.0 | N | 0.825 | 0.481 | 0.490489133298 | gnomAD-4.0.0 | 1.36963E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79975E-06 | 0 | 0 |
| T/N | None | None | 1.0 | D | 0.769 | 0.499 | 0.499535901811 | gnomAD-4.0.0 | 1.36963E-06 | None | None | None | None | I | None | 0 | 4.48109E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| T/S | None | None | 0.999 | D | 0.566 | 0.475 | 0.27132560031 | gnomAD-4.0.0 | 6.84816E-07 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99873E-07 | 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 | 0.326 | likely_benign | 0.3474 | ambiguous | -0.626 | Destabilizing | 0.999 | D | 0.546 | neutral | D | 0.608655508 | None | None | I |
| T/C | 0.8604 | likely_pathogenic | 0.837 | pathogenic | -0.347 | Destabilizing | 1.0 | D | 0.717 | prob.delet. | None | None | None | None | I |
| T/D | 0.8638 | likely_pathogenic | 0.9042 | pathogenic | -0.377 | Destabilizing | 1.0 | D | 0.834 | deleterious | None | None | None | None | I |
| T/E | 0.7495 | likely_pathogenic | 0.8245 | pathogenic | -0.415 | Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | I |
| T/F | 0.7603 | likely_pathogenic | 0.7844 | pathogenic | -0.845 | Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | I |
| T/G | 0.6349 | likely_pathogenic | 0.6453 | pathogenic | -0.84 | Destabilizing | 1.0 | D | 0.771 | deleterious | None | None | None | None | I |
| T/H | 0.731 | likely_pathogenic | 0.7412 | pathogenic | -1.192 | Destabilizing | 1.0 | D | 0.768 | deleterious | None | None | None | None | I |
| T/I | 0.5223 | ambiguous | 0.5687 | pathogenic | -0.158 | Destabilizing | 1.0 | D | 0.825 | deleterious | N | 0.482938836 | None | None | I |
| T/K | 0.5797 | likely_pathogenic | 0.671 | pathogenic | -0.721 | Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | I |
| T/L | 0.296 | likely_benign | 0.3121 | benign | -0.158 | Destabilizing | 0.999 | D | 0.751 | deleterious | None | None | None | None | I |
| T/M | 0.2742 | likely_benign | 0.2866 | benign | 0.228 | Stabilizing | 1.0 | D | 0.729 | prob.delet. | None | None | None | None | I |
| T/N | 0.4589 | ambiguous | 0.4723 | ambiguous | -0.568 | Destabilizing | 1.0 | D | 0.769 | deleterious | D | 0.6044286 | None | None | I |
| T/P | 0.7805 | likely_pathogenic | 0.848 | pathogenic | -0.283 | Destabilizing | 1.0 | D | 0.815 | deleterious | D | 0.711012205 | None | None | I |
| T/Q | 0.5707 | likely_pathogenic | 0.6165 | pathogenic | -0.819 | Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | I |
| T/R | 0.5439 | ambiguous | 0.6346 | pathogenic | -0.407 | Destabilizing | 1.0 | D | 0.812 | deleterious | None | None | None | None | I |
| T/S | 0.3266 | likely_benign | 0.3126 | benign | -0.777 | Destabilizing | 0.999 | D | 0.566 | neutral | D | 0.525167417 | None | None | I |
| T/V | 0.4019 | ambiguous | 0.4167 | ambiguous | -0.283 | Destabilizing | 0.999 | D | 0.661 | neutral | None | None | None | None | I |
| T/W | 0.9413 | likely_pathogenic | 0.9522 | pathogenic | -0.795 | Destabilizing | 1.0 | D | 0.783 | deleterious | None | None | None | None | I |
| T/Y | 0.8138 | likely_pathogenic | 0.8403 | pathogenic | -0.562 | Destabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | I |
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.