Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 28374 | 85345;85346;85347 | chr2:178561012;178561011;178561010 | chr2:179425739;179425738;179425737 |
| N2AB | 26733 | 80422;80423;80424 | chr2:178561012;178561011;178561010 | chr2:179425739;179425738;179425737 |
| N2A | 25806 | 77641;77642;77643 | chr2:178561012;178561011;178561010 | chr2:179425739;179425738;179425737 |
| N2B | 19309 | 58150;58151;58152 | chr2:178561012;178561011;178561010 | chr2:179425739;179425738;179425737 |
| Novex-1 | 19434 | 58525;58526;58527 | chr2:178561012;178561011;178561010 | chr2:179425739;179425738;179425737 |
| Novex-2 | 19501 | 58726;58727;58728 | chr2:178561012;178561011;178561010 | chr2:179425739;179425738;179425737 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | rs777681919  |
-1.21 | 0.027 | N | 0.299 | 0.065 | 0.221734844693 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| V/A | rs777681919 |
-1.21 | 0.027 | N | 0.299 | 0.065 | 0.221734844693 | gnomAD-4.0.0 | 1.59111E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43283E-05 | 0 |
| V/D | rs777681919 |
-0.844 | 0.317 | N | 0.433 | 0.16 | 0.485634191555 | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 2.67E-05 | 0 |
| V/D | rs777681919 |
-0.844 | 0.317 | N | 0.433 | 0.16 | 0.485634191555 | gnomAD-4.0.0 | 9.54666E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.71482E-05 | 0 | 0 |
| V/I | None | None | None | N | 0.115 | 0.055 | 0.0884992946249 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | I | None | 6.33473E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.1353 | likely_benign | 0.1267 | benign | -1.183 | Destabilizing | 0.027 | N | 0.299 | neutral | N | 0.401027195 | None | None | I |
| V/C | 0.6354 | likely_pathogenic | 0.6118 | pathogenic | -0.795 | Destabilizing | 0.935 | D | 0.366 | neutral | None | None | None | None | I |
| V/D | 0.2015 | likely_benign | 0.1936 | benign | -0.91 | Destabilizing | 0.317 | N | 0.433 | neutral | N | 0.408721171 | None | None | I |
| V/E | 0.2078 | likely_benign | 0.207 | benign | -0.956 | Destabilizing | 0.38 | N | 0.375 | neutral | None | None | None | None | I |
| V/F | 0.1546 | likely_benign | 0.1398 | benign | -0.978 | Destabilizing | 0.317 | N | 0.371 | neutral | N | 0.496977661 | None | None | I |
| V/G | 0.1623 | likely_benign | 0.1597 | benign | -1.445 | Destabilizing | 0.317 | N | 0.393 | neutral | N | 0.496457586 | None | None | I |
| V/H | 0.4681 | ambiguous | 0.4361 | ambiguous | -0.902 | Destabilizing | 0.935 | D | 0.423 | neutral | None | None | None | None | I |
| V/I | 0.0761 | likely_benign | 0.0739 | benign | -0.587 | Destabilizing | None | N | 0.115 | neutral | N | 0.423808054 | None | None | I |
| V/K | 0.2812 | likely_benign | 0.2711 | benign | -1.045 | Destabilizing | 0.38 | N | 0.373 | neutral | None | None | None | None | I |
| V/L | 0.1594 | likely_benign | 0.146 | benign | -0.587 | Destabilizing | None | N | 0.1 | neutral | N | 0.459016706 | None | None | I |
| V/M | 0.1224 | likely_benign | 0.1129 | benign | -0.439 | Destabilizing | 0.38 | N | 0.387 | neutral | None | None | None | None | I |
| V/N | 0.1469 | likely_benign | 0.142 | benign | -0.747 | Destabilizing | 0.38 | N | 0.433 | neutral | None | None | None | None | I |
| V/P | 0.3223 | likely_benign | 0.3172 | benign | -0.75 | Destabilizing | 0.555 | D | 0.398 | neutral | None | None | None | None | I |
| V/Q | 0.2716 | likely_benign | 0.2719 | benign | -0.963 | Destabilizing | 0.555 | D | 0.398 | neutral | None | None | None | None | I |
| V/R | 0.2709 | likely_benign | 0.2562 | benign | -0.452 | Destabilizing | 0.38 | N | 0.435 | neutral | None | None | None | None | I |
| V/S | 0.1291 | likely_benign | 0.1264 | benign | -1.226 | Destabilizing | 0.081 | N | 0.329 | neutral | None | None | None | None | I |
| V/T | 0.1185 | likely_benign | 0.116 | benign | -1.166 | Destabilizing | None | N | 0.105 | neutral | None | None | None | None | I |
| V/W | 0.7446 | likely_pathogenic | 0.7136 | pathogenic | -1.099 | Destabilizing | 0.935 | D | 0.517 | neutral | None | None | None | None | I |
| V/Y | 0.4039 | ambiguous | 0.3728 | ambiguous | -0.836 | Destabilizing | 0.555 | D | 0.375 | 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.