Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 24402 | 73429;73430;73431 | chr2:178572928;178572927;178572926 | chr2:179437655;179437654;179437653 |
| N2AB | 22761 | 68506;68507;68508 | chr2:178572928;178572927;178572926 | chr2:179437655;179437654;179437653 |
| N2A | 21834 | 65725;65726;65727 | chr2:178572928;178572927;178572926 | chr2:179437655;179437654;179437653 |
| N2B | 15337 | 46234;46235;46236 | chr2:178572928;178572927;178572926 | chr2:179437655;179437654;179437653 |
| Novex-1 | 15462 | 46609;46610;46611 | chr2:178572928;178572927;178572926 | chr2:179437655;179437654;179437653 |
| Novex-2 | 15529 | 46810;46811;46812 | chr2:178572928;178572927;178572926 | chr2:179437655;179437654;179437653 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| M/I | rs868393238  |
None | 0.08 | N | 0.223 | 0.168 | 0.331619326243 | gnomAD-4.0.0 | 9.58169E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.16948E-05 | 0 | 1.65739E-05 |
| M/T | rs903200206 |
None | 0.002 | N | 0.173 | 0.318 | 0.597040176542 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | I | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| M/T | rs903200206 |
None | 0.002 | N | 0.173 | 0.318 | 0.597040176542 | gnomAD-4.0.0 | 6.57514E-06 | None | None | None | None | I | None | 2.41324E-05 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| M/A | 0.269 | likely_benign | 0.2677 | benign | -1.602 | Destabilizing | 0.002 | N | 0.169 | neutral | None | None | None | None | I |
| M/C | 0.5013 | ambiguous | 0.4852 | ambiguous | -1.658 | Destabilizing | 0.901 | D | 0.454 | neutral | None | None | None | None | I |
| M/D | 0.8801 | likely_pathogenic | 0.8802 | pathogenic | -0.581 | Destabilizing | 0.722 | D | 0.509 | neutral | None | None | None | None | I |
| M/E | 0.4442 | ambiguous | 0.4551 | ambiguous | -0.486 | Destabilizing | 0.561 | D | 0.486 | neutral | None | None | None | None | I |
| M/F | 0.2676 | likely_benign | 0.2537 | benign | -0.522 | Destabilizing | 0.561 | D | 0.381 | neutral | None | None | None | None | I |
| M/G | 0.5664 | likely_pathogenic | 0.5633 | ambiguous | -1.979 | Destabilizing | 0.209 | N | 0.389 | neutral | None | None | None | None | I |
| M/H | 0.4711 | ambiguous | 0.4668 | ambiguous | -1.232 | Destabilizing | 0.965 | D | 0.517 | neutral | None | None | None | None | I |
| M/I | 0.1822 | likely_benign | 0.1786 | benign | -0.601 | Destabilizing | 0.08 | N | 0.223 | neutral | N | 0.359575722 | None | None | I |
| M/K | 0.1555 | likely_benign | 0.1636 | benign | -0.441 | Destabilizing | 0.285 | N | 0.387 | neutral | N | 0.414583643 | None | None | I |
| M/L | 0.1065 | likely_benign | 0.1073 | benign | -0.601 | Destabilizing | None | N | 0.128 | neutral | N | 0.386010175 | None | None | I |
| M/N | 0.5615 | ambiguous | 0.5616 | ambiguous | -0.459 | Destabilizing | 0.722 | D | 0.524 | neutral | None | None | None | None | I |
| M/P | 0.9865 | likely_pathogenic | 0.9845 | pathogenic | -0.908 | Destabilizing | 0.722 | D | 0.521 | neutral | None | None | None | None | I |
| M/Q | 0.2066 | likely_benign | 0.2211 | benign | -0.423 | Destabilizing | 0.722 | D | 0.418 | neutral | None | None | None | None | I |
| M/R | 0.1763 | likely_benign | 0.1834 | benign | -0.261 | Destabilizing | 0.662 | D | 0.456 | neutral | N | 0.417141158 | None | None | I |
| M/S | 0.3317 | likely_benign | 0.3405 | ambiguous | -1.152 | Destabilizing | 0.209 | N | 0.291 | neutral | None | None | None | None | I |
| M/T | 0.1529 | likely_benign | 0.1535 | benign | -0.93 | Destabilizing | 0.002 | N | 0.173 | neutral | N | 0.385762246 | None | None | I |
| M/V | 0.0651 | likely_benign | 0.0636 | benign | -0.908 | Destabilizing | 0.005 | N | 0.108 | neutral | N | 0.326841654 | None | None | I |
| M/W | 0.5999 | likely_pathogenic | 0.5855 | pathogenic | -0.571 | Destabilizing | 0.991 | D | 0.441 | neutral | None | None | None | None | I |
| M/Y | 0.5313 | ambiguous | 0.515 | ambiguous | -0.505 | Destabilizing | 0.722 | D | 0.546 | neutral | 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.