Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 29088 | 87487;87488;87489 | chr2:178558092;178558091;178558090 | chr2:179422819;179422818;179422817 |
| N2AB | 27447 | 82564;82565;82566 | chr2:178558092;178558091;178558090 | chr2:179422819;179422818;179422817 |
| N2A | 26520 | 79783;79784;79785 | chr2:178558092;178558091;178558090 | chr2:179422819;179422818;179422817 |
| N2B | 20023 | 60292;60293;60294 | chr2:178558092;178558091;178558090 | chr2:179422819;179422818;179422817 |
| Novex-1 | 20148 | 60667;60668;60669 | chr2:178558092;178558091;178558090 | chr2:179422819;179422818;179422817 |
| Novex-2 | 20215 | 60868;60869;60870 | chr2:178558092;178558091;178558090 | chr2:179422819;179422818;179422817 |
| 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 | rs565333965  |
-0.083 | 0.235 | N | 0.272 | 0.4 | 0.319686207203 | gnomAD-2.1.1 | 2.41E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 3.34374E-04 | None | 0 | None | 0 | 0 | 0 |
| T/I | rs565333965 |
-0.083 | 0.235 | N | 0.272 | 0.4 | 0.319686207203 | gnomAD-3.1.2 | 2.63E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 7.71307E-04 | None | 0 | 0 | 0 | 0 | 0 |
| T/I | rs565333965 |
-0.083 | 0.235 | N | 0.272 | 0.4 | 0.319686207203 | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 1E-03 | 0 | None | None | None | 0 | None |
| T/I | rs565333965 |
-0.083 | 0.235 | N | 0.272 | 0.4 | 0.319686207203 | gnomAD-4.0.0 | 5.88637E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.09513E-03 | None | 0 | 0 | 0 | 0 | 1.60031E-05 |
| T/P | rs1252696671 |
-0.511 | 0.999 | N | 0.603 | 0.471 | 0.360565625551 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| T/P | rs1252696671 |
-0.511 | 0.999 | N | 0.603 | 0.471 | 0.360565625551 | gnomAD-4.0.0 | 1.59103E-06 | None | None | None | None | N | None | 0 | 2.28624E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 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 | 0.1624 | likely_benign | 0.1448 | benign | -0.275 | Destabilizing | 0.977 | D | 0.425 | neutral | N | 0.506405221 | None | None | N |
| T/C | 0.777 | likely_pathogenic | 0.7365 | pathogenic | -0.171 | Destabilizing | 1.0 | D | 0.638 | neutral | None | None | None | None | N |
| T/D | 0.6079 | likely_pathogenic | 0.5529 | ambiguous | 0.143 | Stabilizing | 0.999 | D | 0.609 | neutral | None | None | None | None | N |
| T/E | 0.7478 | likely_pathogenic | 0.7201 | pathogenic | 0.063 | Stabilizing | 0.999 | D | 0.615 | neutral | None | None | None | None | N |
| T/F | 0.7479 | likely_pathogenic | 0.7328 | pathogenic | -0.798 | Destabilizing | 0.995 | D | 0.683 | prob.neutral | None | None | None | None | N |
| T/G | 0.2806 | likely_benign | 0.2445 | benign | -0.394 | Destabilizing | 0.999 | D | 0.595 | neutral | None | None | None | None | N |
| T/H | 0.6244 | likely_pathogenic | 0.5677 | pathogenic | -0.665 | Destabilizing | 1.0 | D | 0.689 | prob.neutral | None | None | None | None | N |
| T/I | 0.7709 | likely_pathogenic | 0.7457 | pathogenic | -0.082 | Destabilizing | 0.235 | N | 0.272 | neutral | N | 0.470024161 | None | None | N |
| T/K | 0.6464 | likely_pathogenic | 0.6299 | pathogenic | -0.322 | Destabilizing | 0.998 | D | 0.613 | neutral | None | None | None | None | N |
| T/L | 0.368 | ambiguous | 0.3644 | ambiguous | -0.082 | Destabilizing | 0.966 | D | 0.433 | neutral | None | None | None | None | N |
| T/M | 0.2579 | likely_benign | 0.2632 | benign | 0.04 | Stabilizing | 0.999 | D | 0.641 | neutral | None | None | None | None | N |
| T/N | 0.2371 | likely_benign | 0.1892 | benign | -0.053 | Destabilizing | 0.999 | D | 0.627 | neutral | N | 0.494590717 | None | None | N |
| T/P | 0.4316 | ambiguous | 0.3911 | ambiguous | -0.118 | Destabilizing | 0.999 | D | 0.603 | neutral | N | 0.457907387 | None | None | N |
| T/Q | 0.5976 | likely_pathogenic | 0.5593 | ambiguous | -0.275 | Destabilizing | 0.999 | D | 0.637 | neutral | None | None | None | None | N |
| T/R | 0.5974 | likely_pathogenic | 0.5762 | pathogenic | -0.046 | Destabilizing | 0.999 | D | 0.61 | neutral | None | None | None | None | N |
| T/S | 0.1271 | likely_benign | 0.0999 | benign | -0.244 | Destabilizing | 0.989 | D | 0.452 | neutral | N | 0.431307242 | None | None | N |
| T/V | 0.5213 | ambiguous | 0.5294 | ambiguous | -0.118 | Destabilizing | 0.921 | D | 0.436 | neutral | None | None | None | None | N |
| T/W | 0.9303 | likely_pathogenic | 0.9156 | pathogenic | -0.838 | Destabilizing | 1.0 | D | 0.711 | prob.delet. | None | None | None | None | N |
| T/Y | 0.795 | likely_pathogenic | 0.7489 | pathogenic | -0.544 | Destabilizing | 0.999 | D | 0.692 | 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.