Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 22484 | 67675;67676;67677 | chr2:178579747;178579746;178579745 | chr2:179444474;179444473;179444472 |
| N2AB | 20843 | 62752;62753;62754 | chr2:178579747;178579746;178579745 | chr2:179444474;179444473;179444472 |
| N2A | 19916 | 59971;59972;59973 | chr2:178579747;178579746;178579745 | chr2:179444474;179444473;179444472 |
| N2B | 13419 | 40480;40481;40482 | chr2:178579747;178579746;178579745 | chr2:179444474;179444473;179444472 |
| Novex-1 | 13544 | 40855;40856;40857 | chr2:178579747;178579746;178579745 | chr2:179444474;179444473;179444472 |
| Novex-2 | 13611 | 41056;41057;41058 | chr2:178579747;178579746;178579745 | chr2:179444474;179444473;179444472 |
| 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/L | None | None | None | N | 0.067 | 0.091 | 0.374613414588 | gnomAD-4.0.0 | 6.84401E-07 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99666E-07 | 0 | 0 |
| I/T | rs903308296  |
-0.747 | None | N | 0.101 | 0.076 | 0.117506650769 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.94E-06 | 0 |
| I/T | rs903308296 |
-0.747 | None | N | 0.101 | 0.076 | 0.117506650769 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| I/T | rs903308296 |
-0.747 | None | N | 0.101 | 0.076 | 0.117506650769 | gnomAD-4.0.0 | 2.16964E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.96737E-05 | 0 | 0 |
| I/V | None | None | None | N | 0.067 | 0.112 | 0.353974658523 | gnomAD-4.0.0 | 6.84401E-07 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 1.87329E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/A | 0.1222 | likely_benign | 0.0952 | benign | -1.332 | Destabilizing | 0.002 | N | 0.205 | neutral | None | None | None | None | I |
| I/C | 0.5733 | likely_pathogenic | 0.4283 | ambiguous | -0.771 | Destabilizing | 0.245 | N | 0.289 | neutral | None | None | None | None | I |
| I/D | 0.5615 | ambiguous | 0.4586 | ambiguous | -0.735 | Destabilizing | 0.009 | N | 0.308 | neutral | None | None | None | None | I |
| I/E | 0.3922 | ambiguous | 0.3301 | benign | -0.775 | Destabilizing | 0.018 | N | 0.303 | neutral | None | None | None | None | I |
| I/F | 0.1691 | likely_benign | 0.129 | benign | -0.954 | Destabilizing | None | N | 0.122 | neutral | N | 0.494979995 | None | None | I |
| I/G | 0.4123 | ambiguous | 0.2935 | benign | -1.599 | Destabilizing | 0.009 | N | 0.329 | neutral | None | None | None | None | I |
| I/H | 0.3357 | likely_benign | 0.2448 | benign | -0.733 | Destabilizing | 0.245 | N | 0.371 | neutral | None | None | None | None | I |
| I/K | 0.1639 | likely_benign | 0.1393 | benign | -0.884 | Destabilizing | 0.018 | N | 0.303 | neutral | None | None | None | None | I |
| I/L | 0.093 | likely_benign | 0.0807 | benign | -0.701 | Destabilizing | None | N | 0.067 | neutral | N | 0.45627555 | None | None | I |
| I/M | 0.0898 | likely_benign | 0.0753 | benign | -0.541 | Destabilizing | 0.108 | N | 0.263 | neutral | N | 0.465772924 | None | None | I |
| I/N | 0.1544 | likely_benign | 0.124 | benign | -0.633 | Destabilizing | None | N | 0.201 | neutral | N | 0.508032522 | None | None | I |
| I/P | 0.7844 | likely_pathogenic | 0.6641 | pathogenic | -0.879 | Destabilizing | 0.085 | N | 0.425 | neutral | None | None | None | None | I |
| I/Q | 0.2545 | likely_benign | 0.199 | benign | -0.862 | Destabilizing | 0.085 | N | 0.435 | neutral | None | None | None | None | I |
| I/R | 0.1234 | likely_benign | 0.1044 | benign | -0.226 | Destabilizing | 0.044 | N | 0.426 | neutral | None | None | None | None | I |
| I/S | 0.1053 | likely_benign | 0.0862 | benign | -1.192 | Destabilizing | None | N | 0.096 | neutral | N | 0.469916851 | None | None | I |
| I/T | 0.0505 | likely_benign | 0.0469 | benign | -1.124 | Destabilizing | None | N | 0.101 | neutral | N | 0.39995812 | None | None | I |
| I/V | 0.0841 | likely_benign | 0.0717 | benign | -0.879 | Destabilizing | None | N | 0.067 | neutral | N | 0.481941998 | None | None | I |
| I/W | 0.7365 | likely_pathogenic | 0.6186 | pathogenic | -0.963 | Destabilizing | 0.788 | D | 0.348 | neutral | None | None | None | None | I |
| I/Y | 0.4574 | ambiguous | 0.3647 | ambiguous | -0.767 | Destabilizing | 0.022 | N | 0.314 | 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.