Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 35152 | 105679;105680;105681 | chr2:178531161;178531160;178531159 | chr2:179395888;179395887;179395886 |
| N2AB | 33511 | 100756;100757;100758 | chr2:178531161;178531160;178531159 | chr2:179395888;179395887;179395886 |
| N2A | 32584 | 97975;97976;97977 | chr2:178531161;178531160;178531159 | chr2:179395888;179395887;179395886 |
| N2B | 26087 | 78484;78485;78486 | chr2:178531161;178531160;178531159 | chr2:179395888;179395887;179395886 |
| Novex-1 | 26212 | 78859;78860;78861 | chr2:178531161;178531160;178531159 | chr2:179395888;179395887;179395886 |
| Novex-2 | 26279 | 79060;79061;79062 | chr2:178531161;178531160;178531159 | chr2:179395888;179395887;179395886 |
| 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 | None | None | 0.002 | N | 0.402 | 0.189 | 0.245660935333 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 0 |
| T/N | None | None | 0.917 | D | 0.647 | 0.267 | 0.446310458034 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 0 |
| T/P | rs772336949  |
-2.058 | 0.784 | N | 0.729 | 0.321 | 0.385417323374 | gnomAD-2.1.1 | 1.2E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 9.8E-05 | None | 0 | 0 | 0 |
| T/P | rs772336949 |
-2.058 | 0.784 | N | 0.729 | 0.321 | 0.385417323374 | gnomAD-4.0.0 | 4.10482E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 6.95588E-05 | 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 | 0.1939 | likely_benign | 0.2028 | benign | -1.405 | Destabilizing | 0.01 | N | 0.233 | neutral | N | 0.349295305 | None | None | N |
| T/C | 0.6247 | likely_pathogenic | 0.6007 | pathogenic | -1.267 | Destabilizing | 0.981 | D | 0.737 | prob.delet. | None | None | None | None | N |
| T/D | 0.9685 | likely_pathogenic | 0.9717 | pathogenic | -2.101 | Highly Destabilizing | 0.828 | D | 0.693 | prob.neutral | None | None | None | None | N |
| T/E | 0.9233 | likely_pathogenic | 0.9353 | pathogenic | -1.909 | Destabilizing | 0.828 | D | 0.661 | neutral | None | None | None | None | N |
| T/F | 0.5545 | ambiguous | 0.5484 | ambiguous | -1.01 | Destabilizing | 0.007 | N | 0.5 | neutral | None | None | None | None | N |
| T/G | 0.7586 | likely_pathogenic | 0.7693 | pathogenic | -1.776 | Destabilizing | 0.495 | N | 0.677 | prob.neutral | None | None | None | None | N |
| T/H | 0.7964 | likely_pathogenic | 0.8123 | pathogenic | -1.743 | Destabilizing | 0.981 | D | 0.769 | deleterious | None | None | None | None | N |
| T/I | 0.2545 | likely_benign | 0.2639 | benign | -0.431 | Destabilizing | 0.002 | N | 0.402 | neutral | N | 0.343905341 | None | None | N |
| T/K | 0.8297 | likely_pathogenic | 0.8538 | pathogenic | -0.828 | Destabilizing | 0.828 | D | 0.662 | neutral | None | None | None | None | N |
| T/L | 0.2333 | likely_benign | 0.2406 | benign | -0.431 | Destabilizing | 0.085 | N | 0.446 | neutral | None | None | None | None | N |
| T/M | 0.1466 | likely_benign | 0.1522 | benign | -0.488 | Destabilizing | 0.893 | D | 0.747 | deleterious | None | None | None | None | N |
| T/N | 0.6801 | likely_pathogenic | 0.7025 | pathogenic | -1.522 | Destabilizing | 0.917 | D | 0.647 | neutral | D | 0.524997421 | None | None | N |
| T/P | 0.7198 | likely_pathogenic | 0.804 | pathogenic | -0.728 | Destabilizing | 0.784 | D | 0.729 | prob.delet. | N | 0.454060043 | None | None | N |
| T/Q | 0.8169 | likely_pathogenic | 0.8402 | pathogenic | -1.37 | Destabilizing | 0.981 | D | 0.758 | deleterious | None | None | None | None | N |
| T/R | 0.7286 | likely_pathogenic | 0.7683 | pathogenic | -0.911 | Destabilizing | 0.944 | D | 0.745 | deleterious | None | None | None | None | N |
| T/S | 0.3962 | ambiguous | 0.4055 | ambiguous | -1.692 | Destabilizing | 0.27 | N | 0.503 | neutral | N | 0.424083852 | None | None | N |
| T/V | 0.1889 | likely_benign | 0.1899 | benign | -0.728 | Destabilizing | 0.001 | N | 0.239 | neutral | None | None | None | None | N |
| T/W | 0.9132 | likely_pathogenic | 0.9201 | pathogenic | -1.155 | Destabilizing | 0.995 | D | 0.761 | deleterious | None | None | None | None | N |
| T/Y | 0.7312 | likely_pathogenic | 0.7305 | pathogenic | -0.805 | Destabilizing | 0.543 | D | 0.758 | deleterious | 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.