Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 19447 | 58564;58565;58566 | chr2:178594054;178594053;178594052 | chr2:179458781;179458780;179458779 |
| N2AB | 17806 | 53641;53642;53643 | chr2:178594054;178594053;178594052 | chr2:179458781;179458780;179458779 |
| N2A | 16879 | 50860;50861;50862 | chr2:178594054;178594053;178594052 | chr2:179458781;179458780;179458779 |
| N2B | 10382 | 31369;31370;31371 | chr2:178594054;178594053;178594052 | chr2:179458781;179458780;179458779 |
| Novex-1 | 10507 | 31744;31745;31746 | chr2:178594054;178594053;178594052 | chr2:179458781;179458780;179458779 |
| Novex-2 | 10574 | 31945;31946;31947 | chr2:178594054;178594053;178594052 | chr2:179458781;179458780;179458779 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/M | rs1159324065  |
-1.05 | 0.001 | N | 0.371 | 0.067 | 0.255270683199 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.9E-06 | 0 |
| I/M | rs1159324065 |
-1.05 | 0.001 | N | 0.371 | 0.067 | 0.255270683199 | gnomAD-4.0.0 | 1.59179E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85905E-06 | 0 | 0 |
| I/T | None | None | None | N | 0.34 | 0.072 | 0.222439326576 | gnomAD-4.0.0 | 1.59178E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.02517E-05 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/A | 0.1623 | likely_benign | 0.1706 | benign | -1.526 | Destabilizing | None | N | 0.324 | neutral | None | None | None | None | N |
| I/C | 0.4059 | ambiguous | 0.3903 | ambiguous | -0.785 | Destabilizing | 0.245 | N | 0.574 | neutral | None | None | None | None | N |
| I/D | 0.3234 | likely_benign | 0.3036 | benign | -0.888 | Destabilizing | 0.009 | N | 0.609 | neutral | None | None | None | None | N |
| I/E | 0.2139 | likely_benign | 0.2032 | benign | -0.928 | Destabilizing | None | N | 0.467 | neutral | None | None | None | None | N |
| I/F | 0.1023 | likely_benign | 0.1062 | benign | -1.22 | Destabilizing | 0.017 | N | 0.558 | neutral | N | 0.451595741 | None | None | N |
| I/G | 0.2843 | likely_benign | 0.2843 | benign | -1.809 | Destabilizing | 0.018 | N | 0.581 | neutral | None | None | None | None | N |
| I/H | 0.2353 | likely_benign | 0.2251 | benign | -0.981 | Destabilizing | 0.245 | N | 0.645 | neutral | None | None | None | None | N |
| I/K | 0.1233 | likely_benign | 0.1174 | benign | -0.877 | Destabilizing | None | N | 0.469 | neutral | None | None | None | None | N |
| I/L | 0.0797 | likely_benign | 0.0745 | benign | -0.84 | Destabilizing | None | N | 0.189 | neutral | N | 0.40439922699999997 | None | None | N |
| I/M | 0.0718 | likely_benign | 0.0709 | benign | -0.503 | Destabilizing | 0.001 | N | 0.371 | neutral | N | 0.438935875 | None | None | N |
| I/N | 0.104 | likely_benign | 0.1061 | benign | -0.579 | Destabilizing | None | N | 0.47 | neutral | N | 0.414461505 | None | None | N |
| I/P | 0.3924 | ambiguous | 0.3627 | ambiguous | -1.037 | Destabilizing | 0.085 | N | 0.659 | neutral | None | None | None | None | N |
| I/Q | 0.1654 | likely_benign | 0.1589 | benign | -0.835 | Destabilizing | 0.044 | N | 0.649 | neutral | None | None | None | None | N |
| I/R | 0.1032 | likely_benign | 0.0944 | benign | -0.226 | Destabilizing | 0.009 | N | 0.642 | neutral | None | None | None | None | N |
| I/S | 0.1261 | likely_benign | 0.1316 | benign | -1.189 | Destabilizing | 0.001 | N | 0.391 | neutral | N | 0.405628591 | None | None | N |
| I/T | 0.1051 | likely_benign | 0.1143 | benign | -1.118 | Destabilizing | None | N | 0.34 | neutral | N | 0.405938022 | None | None | N |
| I/V | 0.069 | likely_benign | 0.0711 | benign | -1.037 | Destabilizing | None | N | 0.185 | neutral | N | 0.392163435 | None | None | N |
| I/W | 0.4311 | ambiguous | 0.3858 | ambiguous | -1.227 | Destabilizing | 0.788 | D | 0.625 | neutral | None | None | None | None | N |
| I/Y | 0.2498 | likely_benign | 0.2293 | benign | -1.016 | Destabilizing | 0.085 | N | 0.624 | 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.