Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 1119 | 3580;3581;3582 | chr2:178782237;178782236;178782235 | chr2:179646964;179646963;179646962 |
| N2AB | 1119 | 3580;3581;3582 | chr2:178782237;178782236;178782235 | chr2:179646964;179646963;179646962 |
| N2A | 1119 | 3580;3581;3582 | chr2:178782237;178782236;178782235 | chr2:179646964;179646963;179646962 |
| N2B | 1073 | 3442;3443;3444 | chr2:178782237;178782236;178782235 | chr2:179646964;179646963;179646962 |
| Novex-1 | 1073 | 3442;3443;3444 | chr2:178782237;178782236;178782235 | chr2:179646964;179646963;179646962 |
| Novex-2 | 1073 | 3442;3443;3444 | chr2:178782237;178782236;178782235 | chr2:179646964;179646963;179646962 |
| Novex-3 | 1119 | 3580;3581;3582 | chr2:178782237;178782236;178782235 | chr2:179646964;179646963;179646962 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/D | None | None | 1.0 | N | 0.665 | 0.566 | 0.230578612272 | 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 |
| G/S | rs2092847521  |
None | 1.0 | N | 0.673 | 0.486 | 0.20549828249 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.5222 | ambiguous | 0.4857 | ambiguous | -0.377 | Destabilizing | 1.0 | D | 0.589 | neutral | N | 0.509646541 | None | None | N |
| G/C | 0.8445 | likely_pathogenic | 0.8029 | pathogenic | -1.04 | Destabilizing | 1.0 | D | 0.683 | prob.neutral | D | 0.679200197 | None | None | N |
| G/D | 0.6531 | likely_pathogenic | 0.5561 | ambiguous | -0.712 | Destabilizing | 1.0 | D | 0.665 | neutral | N | 0.473043797 | None | None | N |
| G/E | 0.7901 | likely_pathogenic | 0.7004 | pathogenic | -0.871 | Destabilizing | 1.0 | D | 0.669 | neutral | None | None | None | None | N |
| G/F | 0.9685 | likely_pathogenic | 0.9601 | pathogenic | -1.052 | Destabilizing | 1.0 | D | 0.687 | prob.neutral | None | None | None | None | N |
| G/H | 0.8841 | likely_pathogenic | 0.8552 | pathogenic | -0.489 | Destabilizing | 1.0 | D | 0.665 | neutral | None | None | None | None | N |
| G/I | 0.944 | likely_pathogenic | 0.9277 | pathogenic | -0.538 | Destabilizing | 1.0 | D | 0.696 | prob.neutral | None | None | None | None | N |
| G/K | 0.9238 | likely_pathogenic | 0.8919 | pathogenic | -0.94 | Destabilizing | 1.0 | D | 0.672 | neutral | None | None | None | None | N |
| G/L | 0.9241 | likely_pathogenic | 0.9085 | pathogenic | -0.538 | Destabilizing | 1.0 | D | 0.695 | prob.neutral | None | None | None | None | N |
| G/M | 0.929 | likely_pathogenic | 0.9159 | pathogenic | -0.635 | Destabilizing | 1.0 | D | 0.677 | prob.neutral | None | None | None | None | N |
| G/N | 0.5836 | likely_pathogenic | 0.5396 | ambiguous | -0.649 | Destabilizing | 1.0 | D | 0.676 | prob.neutral | None | None | None | None | N |
| G/P | 0.9942 | likely_pathogenic | 0.994 | pathogenic | -0.453 | Destabilizing | 1.0 | D | 0.687 | prob.neutral | None | None | None | None | N |
| G/Q | 0.7995 | likely_pathogenic | 0.7575 | pathogenic | -0.931 | Destabilizing | 1.0 | D | 0.696 | prob.neutral | None | None | None | None | N |
| G/R | 0.8412 | likely_pathogenic | 0.7769 | pathogenic | -0.442 | Destabilizing | 1.0 | D | 0.697 | prob.neutral | N | 0.515764552 | None | None | N |
| G/S | 0.2486 | likely_benign | 0.2155 | benign | -0.788 | Destabilizing | 1.0 | D | 0.673 | neutral | N | 0.474505726 | None | None | N |
| G/T | 0.6697 | likely_pathogenic | 0.6243 | pathogenic | -0.877 | Destabilizing | 1.0 | D | 0.669 | neutral | None | None | None | None | N |
| G/V | 0.8806 | likely_pathogenic | 0.8513 | pathogenic | -0.453 | Destabilizing | 1.0 | D | 0.682 | prob.neutral | D | 0.679200197 | None | None | N |
| G/W | 0.9447 | likely_pathogenic | 0.9287 | pathogenic | -1.178 | Destabilizing | 1.0 | D | 0.663 | neutral | None | None | None | None | N |
| G/Y | 0.9564 | likely_pathogenic | 0.9395 | pathogenic | -0.86 | Destabilizing | 1.0 | D | 0.685 | prob.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.