Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 18679 | 56260;56261;56262 | chr2:178600869;178600868;178600867 | chr2:179465596;179465595;179465594 |
| N2AB | 17038 | 51337;51338;51339 | chr2:178600869;178600868;178600867 | chr2:179465596;179465595;179465594 |
| N2A | 16111 | 48556;48557;48558 | chr2:178600869;178600868;178600867 | chr2:179465596;179465595;179465594 |
| N2B | 9614 | 29065;29066;29067 | chr2:178600869;178600868;178600867 | chr2:179465596;179465595;179465594 |
| Novex-1 | 9739 | 29440;29441;29442 | chr2:178600869;178600868;178600867 | chr2:179465596;179465595;179465594 |
| Novex-2 | 9806 | 29641;29642;29643 | chr2:178600869;178600868;178600867 | chr2:179465596;179465595;179465594 |
| 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/I | None | None | None | N | None | 0.019 | None | gnomAD-4.0.0 | 1.56042E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.70625E-05 | 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 | 0.4695 | ambiguous | 0.4438 | ambiguous | -2.165 | Highly Destabilizing | None | None | None | None | N | 0.42038932 | None | None | N |
| V/C | 0.8771 | likely_pathogenic | 0.8694 | pathogenic | -2.084 | Highly Destabilizing | 0.035 | N | 0.583 | neutral | None | None | None | None | N |
| V/D | 0.9929 | likely_pathogenic | 0.9927 | pathogenic | -3.016 | Highly Destabilizing | None | None | None | None | N | 0.489189416 | None | None | N |
| V/E | 0.9806 | likely_pathogenic | 0.98 | pathogenic | -2.817 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| V/F | 0.8413 | likely_pathogenic | 0.8052 | pathogenic | -1.26 | Destabilizing | None | None | None | None | N | 0.488935926 | None | None | N |
| V/G | 0.8277 | likely_pathogenic | 0.8058 | pathogenic | -2.639 | Highly Destabilizing | None | None | None | None | N | 0.489189416 | None | None | N |
| V/H | 0.9941 | likely_pathogenic | 0.9929 | pathogenic | -2.252 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| V/I | 0.1023 | likely_benign | 0.0938 | benign | -0.845 | Destabilizing | None | None | None | None | N | 0.435148129 | None | None | N |
| V/K | 0.9847 | likely_pathogenic | 0.9841 | pathogenic | -1.704 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/L | 0.586 | likely_pathogenic | 0.5176 | ambiguous | -0.845 | Destabilizing | None | None | None | None | N | 0.497540595 | None | None | N |
| V/M | 0.5988 | likely_pathogenic | 0.5398 | ambiguous | -1.257 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/N | 0.9612 | likely_pathogenic | 0.9553 | pathogenic | -2.068 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| V/P | 0.8642 | likely_pathogenic | 0.839 | pathogenic | -1.261 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/Q | 0.9737 | likely_pathogenic | 0.9724 | pathogenic | -1.959 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/R | 0.9644 | likely_pathogenic | 0.9659 | pathogenic | -1.511 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/S | 0.8228 | likely_pathogenic | 0.8112 | pathogenic | -2.612 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| V/T | 0.7281 | likely_pathogenic | 0.6878 | pathogenic | -2.284 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| V/W | 0.9968 | likely_pathogenic | 0.9957 | pathogenic | -1.693 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/Y | 0.9863 | likely_pathogenic | 0.9834 | pathogenic | -1.372 | Destabilizing | None | None | None | None | 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.