Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 23707 | 71344;71345;71346 | chr2:178575013;178575012;178575011 | chr2:179439740;179439739;179439738 |
| N2AB | 22066 | 66421;66422;66423 | chr2:178575013;178575012;178575011 | chr2:179439740;179439739;179439738 |
| N2A | 21139 | 63640;63641;63642 | chr2:178575013;178575012;178575011 | chr2:179439740;179439739;179439738 |
| N2B | 14642 | 44149;44150;44151 | chr2:178575013;178575012;178575011 | chr2:179439740;179439739;179439738 |
| Novex-1 | 14767 | 44524;44525;44526 | chr2:178575013;178575012;178575011 | chr2:179439740;179439739;179439738 |
| Novex-2 | 14834 | 44725;44726;44727 | chr2:178575013;178575012;178575011 | chr2:179439740;179439739;179439738 |
| 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 | 0.984 | N | 0.753 | 0.337 | 0.491729458163 | gnomAD-4.0.0 | 1.20033E-06 | None | None | None | None | I | None | 6.33473E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| T/R | rs1180389290  |
-0.561 | 0.938 | N | 0.717 | 0.411 | 0.606211627851 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 6.48E-05 | 0 |
| T/R | rs1180389290 |
-0.561 | 0.938 | N | 0.717 | 0.411 | 0.606211627851 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| T/R | rs1180389290 |
-0.561 | 0.938 | N | 0.717 | 0.411 | 0.606211627851 | gnomAD-4.0.0 | 6.57497E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.47072E-05 | 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 | 0.0839 | likely_benign | 0.087 | benign | -0.791 | Destabilizing | 0.64 | D | 0.621 | neutral | N | 0.49396167 | None | None | I |
| T/C | 0.2377 | likely_benign | 0.2707 | benign | -0.552 | Destabilizing | 0.999 | D | 0.722 | prob.delet. | None | None | None | None | I |
| T/D | 0.4488 | ambiguous | 0.4553 | ambiguous | -0.548 | Destabilizing | 0.919 | D | 0.699 | prob.neutral | None | None | None | None | I |
| T/E | 0.2874 | likely_benign | 0.2728 | benign | -0.529 | Destabilizing | 0.919 | D | 0.675 | neutral | None | None | None | None | I |
| T/F | 0.1396 | likely_benign | 0.1459 | benign | -0.751 | Destabilizing | 0.996 | D | 0.807 | deleterious | None | None | None | None | I |
| T/G | 0.2496 | likely_benign | 0.2758 | benign | -1.075 | Destabilizing | 0.851 | D | 0.709 | prob.delet. | None | None | None | None | I |
| T/H | 0.1621 | likely_benign | 0.1641 | benign | -1.4 | Destabilizing | 0.999 | D | 0.789 | deleterious | None | None | None | None | I |
| T/I | 0.0907 | likely_benign | 0.0897 | benign | -0.117 | Destabilizing | 0.984 | D | 0.753 | deleterious | N | 0.50837453 | None | None | I |
| T/K | 0.1789 | likely_benign | 0.1658 | benign | -0.82 | Destabilizing | 0.103 | N | 0.449 | neutral | N | 0.491671495 | None | None | I |
| T/L | 0.0719 | likely_benign | 0.0729 | benign | -0.117 | Destabilizing | 0.919 | D | 0.67 | neutral | None | None | None | None | I |
| T/M | 0.0803 | likely_benign | 0.0816 | benign | 0.16 | Stabilizing | 0.999 | D | 0.72 | prob.delet. | None | None | None | None | I |
| T/N | 0.1267 | likely_benign | 0.1442 | benign | -0.808 | Destabilizing | 0.919 | D | 0.651 | neutral | None | None | None | None | I |
| T/P | 0.5254 | ambiguous | 0.562 | ambiguous | -0.309 | Destabilizing | 0.984 | D | 0.747 | deleterious | D | 0.529716107 | None | None | I |
| T/Q | 0.1844 | likely_benign | 0.1828 | benign | -0.966 | Destabilizing | 0.976 | D | 0.753 | deleterious | None | None | None | None | I |
| T/R | 0.1548 | likely_benign | 0.1383 | benign | -0.626 | Destabilizing | 0.938 | D | 0.717 | prob.delet. | N | 0.517300658 | None | None | I |
| T/S | 0.0977 | likely_benign | 0.1089 | benign | -1.05 | Destabilizing | 0.103 | N | 0.354 | neutral | D | 0.526074857 | None | None | I |
| T/V | 0.0797 | likely_benign | 0.0802 | benign | -0.309 | Destabilizing | 0.919 | D | 0.637 | neutral | None | None | None | None | I |
| T/W | 0.4686 | ambiguous | 0.4547 | ambiguous | -0.704 | Destabilizing | 0.999 | D | 0.788 | deleterious | None | None | None | None | I |
| T/Y | 0.1882 | likely_benign | 0.191 | benign | -0.467 | Destabilizing | 0.996 | D | 0.809 | 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.