Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 1126 | 3601;3602;3603 | chr2:178782216;178782215;178782214 | chr2:179646943;179646942;179646941 |
| N2AB | 1126 | 3601;3602;3603 | chr2:178782216;178782215;178782214 | chr2:179646943;179646942;179646941 |
| N2A | 1126 | 3601;3602;3603 | chr2:178782216;178782215;178782214 | chr2:179646943;179646942;179646941 |
| N2B | 1080 | 3463;3464;3465 | chr2:178782216;178782215;178782214 | chr2:179646943;179646942;179646941 |
| Novex-1 | 1080 | 3463;3464;3465 | chr2:178782216;178782215;178782214 | chr2:179646943;179646942;179646941 |
| Novex-2 | 1080 | 3463;3464;3465 | chr2:178782216;178782215;178782214 | chr2:179646943;179646942;179646941 |
| Novex-3 | 1126 | 3601;3602;3603 | chr2:178782216;178782215;178782214 | chr2:179646943;179646942;179646941 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Y/C | None | None | 1.0 | N | 0.677 | 0.582 | 0.403609169532 | gnomAD-4.0.0 | 1.59059E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85669E-06 | 0 | 0 |
| Y/D | None | None | 1.0 | N | 0.693 | 0.624 | 0.505091552036 | gnomAD-4.0.0 | 1.20033E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.31251E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Y/A | 0.9452 | likely_pathogenic | 0.9381 | pathogenic | -0.461 | Destabilizing | 1.0 | D | 0.531 | neutral | None | None | None | None | I |
| Y/C | 0.788 | likely_pathogenic | 0.7712 | pathogenic | -0.099 | Destabilizing | 1.0 | D | 0.677 | prob.neutral | N | 0.44954129 | None | None | I |
| Y/D | 0.8966 | likely_pathogenic | 0.901 | pathogenic | 0.658 | Stabilizing | 1.0 | D | 0.693 | prob.neutral | N | 0.372768204 | None | None | I |
| Y/E | 0.9763 | likely_pathogenic | 0.9716 | pathogenic | 0.637 | Stabilizing | 1.0 | D | 0.605 | neutral | None | None | None | None | I |
| Y/F | 0.2446 | likely_benign | 0.2375 | benign | -0.299 | Destabilizing | 0.999 | D | 0.519 | neutral | N | 0.443401906 | None | None | I |
| Y/G | 0.8834 | likely_pathogenic | 0.8799 | pathogenic | -0.602 | Destabilizing | 1.0 | D | 0.657 | neutral | None | None | None | None | I |
| Y/H | 0.8502 | likely_pathogenic | 0.8458 | pathogenic | 0.3 | Stabilizing | 1.0 | D | 0.663 | neutral | N | 0.401575355 | None | None | I |
| Y/I | 0.9219 | likely_pathogenic | 0.9131 | pathogenic | -0.124 | Destabilizing | 1.0 | D | 0.605 | neutral | None | None | None | None | I |
| Y/K | 0.9745 | likely_pathogenic | 0.9738 | pathogenic | 0.088 | Stabilizing | 1.0 | D | 0.605 | neutral | None | None | None | None | I |
| Y/L | 0.8307 | likely_pathogenic | 0.8125 | pathogenic | -0.124 | Destabilizing | 0.999 | D | 0.569 | neutral | None | None | None | None | I |
| Y/M | 0.9375 | likely_pathogenic | 0.9306 | pathogenic | -0.248 | Destabilizing | 1.0 | D | 0.659 | neutral | None | None | None | None | I |
| Y/N | 0.7168 | likely_pathogenic | 0.731 | pathogenic | -0.239 | Destabilizing | 1.0 | D | 0.638 | neutral | N | 0.400021044 | None | None | I |
| Y/P | 0.9349 | likely_pathogenic | 0.9415 | pathogenic | -0.219 | Destabilizing | 1.0 | D | 0.699 | prob.neutral | None | None | None | None | I |
| Y/Q | 0.9687 | likely_pathogenic | 0.9648 | pathogenic | -0.131 | Destabilizing | 1.0 | D | 0.645 | neutral | None | None | None | None | I |
| Y/R | 0.9471 | likely_pathogenic | 0.9429 | pathogenic | 0.225 | Stabilizing | 1.0 | D | 0.64 | neutral | None | None | None | None | I |
| Y/S | 0.7452 | likely_pathogenic | 0.7433 | pathogenic | -0.549 | Destabilizing | 1.0 | D | 0.606 | neutral | N | 0.374160066 | None | None | I |
| Y/T | 0.9397 | likely_pathogenic | 0.9344 | pathogenic | -0.485 | Destabilizing | 1.0 | D | 0.599 | neutral | None | None | None | None | I |
| Y/V | 0.8768 | likely_pathogenic | 0.8555 | pathogenic | -0.219 | Destabilizing | 1.0 | D | 0.569 | neutral | None | None | None | None | I |
| Y/W | 0.8025 | likely_pathogenic | 0.7714 | pathogenic | -0.511 | Destabilizing | 1.0 | D | 0.675 | 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.