Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 22537 | 67834;67835;67836 | chr2:178579588;178579587;178579586 | chr2:179444315;179444314;179444313 |
| N2AB | 20896 | 62911;62912;62913 | chr2:178579588;178579587;178579586 | chr2:179444315;179444314;179444313 |
| N2A | 19969 | 60130;60131;60132 | chr2:178579588;178579587;178579586 | chr2:179444315;179444314;179444313 |
| N2B | 13472 | 40639;40640;40641 | chr2:178579588;178579587;178579586 | chr2:179444315;179444314;179444313 |
| Novex-1 | 13597 | 41014;41015;41016 | chr2:178579588;178579587;178579586 | chr2:179444315;179444314;179444313 |
| Novex-2 | 13664 | 41215;41216;41217 | chr2:178579588;178579587;178579586 | chr2:179444315;179444314;179444313 |
| 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/F | None | None | 0.868 | N | 0.724 | 0.105 | 0.531629458225 | gnomAD-4.0.0 | 6.84391E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99664E-07 | 0 | 0 |
| I/L | rs2047230730  |
None | 0.001 | N | 0.215 | 0.08 | 0.347659731818 | gnomAD-4.0.0 | 2.05317E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 1.87484E-05 | 0 | 1.79933E-06 | 0 | 0 |
| I/T | None | None | 0.791 | N | 0.715 | 0.263 | 0.640464653361 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/A | 0.4717 | ambiguous | 0.4459 | ambiguous | -1.812 | Destabilizing | 0.505 | D | 0.674 | prob.neutral | None | None | None | None | N |
| I/C | 0.718 | likely_pathogenic | 0.6824 | pathogenic | -1.19 | Destabilizing | 0.995 | D | 0.676 | prob.neutral | None | None | None | None | N |
| I/D | 0.8259 | likely_pathogenic | 0.822 | pathogenic | -1.296 | Destabilizing | 0.982 | D | 0.809 | deleterious | None | None | None | None | N |
| I/E | 0.686 | likely_pathogenic | 0.6752 | pathogenic | -1.208 | Destabilizing | 0.982 | D | 0.777 | deleterious | None | None | None | None | N |
| I/F | 0.1981 | likely_benign | 0.214 | benign | -1.053 | Destabilizing | 0.868 | D | 0.724 | deleterious | N | 0.477938901 | None | None | N |
| I/G | 0.7811 | likely_pathogenic | 0.7742 | pathogenic | -2.225 | Highly Destabilizing | 0.982 | D | 0.769 | deleterious | None | None | None | None | N |
| I/H | 0.6875 | likely_pathogenic | 0.6925 | pathogenic | -1.424 | Destabilizing | 0.995 | D | 0.797 | deleterious | None | None | None | None | N |
| I/K | 0.5019 | ambiguous | 0.4984 | ambiguous | -1.353 | Destabilizing | 0.946 | D | 0.757 | deleterious | None | None | None | None | N |
| I/L | 0.1177 | likely_benign | 0.1144 | benign | -0.707 | Destabilizing | 0.001 | N | 0.215 | neutral | N | 0.352820321 | None | None | N |
| I/M | 0.0813 | likely_benign | 0.0816 | benign | -0.637 | Destabilizing | 0.868 | D | 0.733 | deleterious | N | 0.448482786 | None | None | N |
| I/N | 0.4207 | ambiguous | 0.4458 | ambiguous | -1.338 | Destabilizing | 0.976 | D | 0.815 | deleterious | N | 0.45188845 | None | None | N |
| I/P | 0.975 | likely_pathogenic | 0.9762 | pathogenic | -1.046 | Destabilizing | 0.982 | D | 0.819 | deleterious | None | None | None | None | N |
| I/Q | 0.589 | likely_pathogenic | 0.5769 | pathogenic | -1.376 | Destabilizing | 0.982 | D | 0.808 | deleterious | None | None | None | None | N |
| I/R | 0.4517 | ambiguous | 0.4706 | ambiguous | -0.882 | Destabilizing | 0.946 | D | 0.812 | deleterious | None | None | None | None | N |
| I/S | 0.4954 | ambiguous | 0.5023 | ambiguous | -2.016 | Highly Destabilizing | 0.93 | D | 0.704 | prob.delet. | N | 0.42741408 | None | None | N |
| I/T | 0.3556 | ambiguous | 0.3411 | ambiguous | -1.793 | Destabilizing | 0.791 | D | 0.715 | prob.delet. | N | 0.415119574 | None | None | N |
| I/V | 0.1053 | likely_benign | 0.1008 | benign | -1.046 | Destabilizing | 0.144 | N | 0.457 | neutral | N | 0.417850448 | None | None | N |
| I/W | 0.817 | likely_pathogenic | 0.8223 | pathogenic | -1.216 | Destabilizing | 0.995 | D | 0.805 | deleterious | None | None | None | None | N |
| I/Y | 0.5369 | ambiguous | 0.5617 | ambiguous | -0.964 | Destabilizing | 0.946 | D | 0.735 | deleterious | 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.