Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 20283 | 61072;61073;61074 | chr2:178590878;178590877;178590876 | chr2:179455605;179455604;179455603 |
| N2AB | 18642 | 56149;56150;56151 | chr2:178590878;178590877;178590876 | chr2:179455605;179455604;179455603 |
| N2A | 17715 | 53368;53369;53370 | chr2:178590878;178590877;178590876 | chr2:179455605;179455604;179455603 |
| N2B | 11218 | 33877;33878;33879 | chr2:178590878;178590877;178590876 | chr2:179455605;179455604;179455603 |
| Novex-1 | 11343 | 34252;34253;34254 | chr2:178590878;178590877;178590876 | chr2:179455605;179455604;179455603 |
| Novex-2 | 11410 | 34453;34454;34455 | chr2:178590878;178590877;178590876 | chr2:179455605;179455604;179455603 |
| 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/V | rs1159161091  |
None | 0.248 | N | 0.141 | 0.074 | 0.337621943819 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| I/V | rs1159161091 |
None | 0.248 | N | 0.141 | 0.074 | 0.337621943819 | gnomAD-4.0.0 | 4.96691E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 6.79472E-06 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/A | 0.4842 | ambiguous | 0.4861 | ambiguous | -0.925 | Destabilizing | 0.97 | D | 0.522 | neutral | None | None | None | None | N |
| I/C | 0.663 | likely_pathogenic | 0.6496 | pathogenic | -0.762 | Destabilizing | 1.0 | D | 0.507 | neutral | None | None | None | None | N |
| I/D | 0.89 | likely_pathogenic | 0.8866 | pathogenic | -0.241 | Destabilizing | 0.999 | D | 0.642 | neutral | None | None | None | None | N |
| I/E | 0.7976 | likely_pathogenic | 0.7778 | pathogenic | -0.317 | Destabilizing | 0.999 | D | 0.637 | neutral | None | None | None | None | N |
| I/F | 0.2845 | likely_benign | 0.3 | benign | -0.956 | Destabilizing | 0.989 | D | 0.443 | neutral | D | 0.525044989 | None | None | N |
| I/G | 0.8184 | likely_pathogenic | 0.8124 | pathogenic | -1.122 | Destabilizing | 0.999 | D | 0.619 | neutral | None | None | None | None | N |
| I/H | 0.7332 | likely_pathogenic | 0.7274 | pathogenic | -0.522 | Destabilizing | 1.0 | D | 0.655 | neutral | None | None | None | None | N |
| I/K | 0.5633 | ambiguous | 0.5431 | ambiguous | -0.393 | Destabilizing | 0.999 | D | 0.624 | neutral | None | None | None | None | N |
| I/L | 0.1837 | likely_benign | 0.1776 | benign | -0.514 | Destabilizing | 0.031 | N | 0.132 | neutral | N | 0.48030999 | None | None | N |
| I/M | 0.1433 | likely_benign | 0.1472 | benign | -0.409 | Destabilizing | 0.989 | D | 0.47 | neutral | N | 0.482412829 | None | None | N |
| I/N | 0.4875 | ambiguous | 0.4886 | ambiguous | -0.186 | Destabilizing | 0.998 | D | 0.651 | neutral | N | 0.495642012 | None | None | N |
| I/P | 0.9049 | likely_pathogenic | 0.8967 | pathogenic | -0.617 | Destabilizing | 0.999 | D | 0.649 | neutral | None | None | None | None | N |
| I/Q | 0.6603 | likely_pathogenic | 0.6414 | pathogenic | -0.43 | Destabilizing | 0.999 | D | 0.648 | neutral | None | None | None | None | N |
| I/R | 0.4866 | ambiguous | 0.464 | ambiguous | 0.11 | Stabilizing | 0.999 | D | 0.649 | neutral | None | None | None | None | N |
| I/S | 0.4757 | ambiguous | 0.4719 | ambiguous | -0.719 | Destabilizing | 0.994 | D | 0.514 | neutral | N | 0.507208589 | None | None | N |
| I/T | 0.2509 | likely_benign | 0.2591 | benign | -0.68 | Destabilizing | 0.961 | D | 0.469 | neutral | N | 0.49143106 | None | None | N |
| I/V | 0.0699 | likely_benign | 0.0693 | benign | -0.617 | Destabilizing | 0.248 | N | 0.141 | neutral | N | 0.399326189 | None | None | N |
| I/W | 0.8863 | likely_pathogenic | 0.8843 | pathogenic | -0.956 | Destabilizing | 1.0 | D | 0.702 | prob.neutral | None | None | None | None | N |
| I/Y | 0.6884 | likely_pathogenic | 0.672 | pathogenic | -0.672 | Destabilizing | 0.999 | D | 0.513 | 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.