Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3248 | 9967;9968;9969 | chr2:178764773;178764772;178764771 | chr2:179629500;179629499;179629498 |
| N2AB | 3248 | 9967;9968;9969 | chr2:178764773;178764772;178764771 | chr2:179629500;179629499;179629498 |
| N2A | 3248 | 9967;9968;9969 | chr2:178764773;178764772;178764771 | chr2:179629500;179629499;179629498 |
| N2B | 3202 | 9829;9830;9831 | chr2:178764773;178764772;178764771 | chr2:179629500;179629499;179629498 |
| Novex-1 | 3202 | 9829;9830;9831 | chr2:178764773;178764772;178764771 | chr2:179629500;179629499;179629498 |
| Novex-2 | 3202 | 9829;9830;9831 | chr2:178764773;178764772;178764771 | chr2:179629500;179629499;179629498 |
| Novex-3 | 3248 | 9967;9968;9969 | chr2:178764773;178764772;178764771 | chr2:179629500;179629499;179629498 |
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 | rs2090056123  |
None | None | N | 0.076 | 0.119 | 0.324436698001 | gnomAD-4.0.0 | 1.59135E-06 | None | None | None | None | N | None | 0 | 2.28666E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/I | rs754873655 |
-0.231 | None | N | 0.091 | 0.178 | 0.181679512989 | gnomAD-2.1.1 | 3.99E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| V/I | rs754873655 |
-0.231 | None | N | 0.091 | 0.178 | 0.181679512989 | gnomAD-4.0.0 | 1.3685E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 2.31895E-05 | 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 | 0.0874 | likely_benign | 0.1291 | benign | -1.31 | Destabilizing | None | N | 0.076 | neutral | N | 0.501165757 | None | None | N |
| V/C | 0.503 | ambiguous | 0.7248 | pathogenic | -0.885 | Destabilizing | 0.001 | N | 0.261 | neutral | None | None | None | None | N |
| V/D | 0.3268 | likely_benign | 0.5969 | pathogenic | -0.757 | Destabilizing | 0.055 | N | 0.499 | neutral | D | 0.574538965 | None | None | N |
| V/E | 0.2419 | likely_benign | 0.3908 | ambiguous | -0.715 | Destabilizing | 0.016 | N | 0.421 | neutral | None | None | None | None | N |
| V/F | 0.1499 | likely_benign | 0.2925 | benign | -0.93 | Destabilizing | 0.055 | N | 0.496 | neutral | N | 0.520082078 | None | None | N |
| V/G | 0.189 | likely_benign | 0.3779 | ambiguous | -1.666 | Destabilizing | 0.012 | N | 0.391 | neutral | D | 0.524646815 | None | None | N |
| V/H | 0.4206 | ambiguous | 0.7184 | pathogenic | -1.24 | Destabilizing | 0.356 | N | 0.475 | neutral | None | None | None | None | N |
| V/I | 0.0614 | likely_benign | 0.0769 | benign | -0.425 | Destabilizing | None | N | 0.091 | neutral | N | 0.450626979 | None | None | N |
| V/K | 0.2826 | likely_benign | 0.5007 | ambiguous | -0.921 | Destabilizing | 0.038 | N | 0.442 | neutral | None | None | None | None | N |
| V/L | 0.1068 | likely_benign | 0.1906 | benign | -0.425 | Destabilizing | None | N | 0.139 | neutral | N | 0.442767721 | None | None | N |
| V/M | 0.0851 | likely_benign | 0.1348 | benign | -0.399 | Destabilizing | 0.214 | N | 0.392 | neutral | None | None | None | None | N |
| V/N | 0.1647 | likely_benign | 0.383 | ambiguous | -0.799 | Destabilizing | 0.072 | N | 0.519 | neutral | None | None | None | None | N |
| V/P | 0.7581 | likely_pathogenic | 0.9496 | pathogenic | -0.684 | Destabilizing | 0.072 | N | 0.503 | neutral | None | None | None | None | N |
| V/Q | 0.2427 | likely_benign | 0.378 | ambiguous | -0.869 | Destabilizing | 0.001 | N | 0.265 | neutral | None | None | None | None | N |
| V/R | 0.2388 | likely_benign | 0.4496 | ambiguous | -0.584 | Destabilizing | 0.072 | N | 0.526 | neutral | None | None | None | None | N |
| V/S | 0.1217 | likely_benign | 0.2334 | benign | -1.413 | Destabilizing | 0.016 | N | 0.319 | neutral | None | None | None | None | N |
| V/T | 0.0835 | likely_benign | 0.144 | benign | -1.245 | Destabilizing | None | N | 0.149 | neutral | None | None | None | None | N |
| V/W | 0.7239 | likely_pathogenic | 0.9103 | pathogenic | -1.163 | Destabilizing | 0.864 | D | 0.482 | neutral | None | None | None | None | N |
| V/Y | 0.4297 | ambiguous | 0.7028 | pathogenic | -0.81 | Destabilizing | 0.356 | N | 0.469 | 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.