Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3410 | 10453;10454;10455 | chr2:178759059;178759058;178759057 | chr2:179623786;179623785;179623784 |
| N2AB | 3410 | 10453;10454;10455 | chr2:178759059;178759058;178759057 | chr2:179623786;179623785;179623784 |
| N2A | 3410 | 10453;10454;10455 | chr2:178759059;178759058;178759057 | chr2:179623786;179623785;179623784 |
| N2B | 3364 | 10315;10316;10317 | chr2:178759059;178759058;178759057 | chr2:179623786;179623785;179623784 |
| Novex-1 | 3364 | 10315;10316;10317 | chr2:178759059;178759058;178759057 | chr2:179623786;179623785;179623784 |
| Novex-2 | 3364 | 10315;10316;10317 | chr2:178759059;178759058;178759057 | chr2:179623786;179623785;179623784 |
| Novex-3 | 3410 | 10453;10454;10455 | chr2:178759059;178759058;178759057 | chr2:179623786;179623785;179623784 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/N | None | None | 1.0 | D | 0.78 | 0.715 | 0.674262823506 | 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 |
| D/V | rs1436088108  |
None | 1.0 | D | 0.847 | 0.937 | 0.912779747741 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| D/V | rs1436088108 |
None | 1.0 | D | 0.847 | 0.937 | 0.912779747741 | gnomAD-4.0.0 | 6.5697E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.46972E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.9318 | likely_pathogenic | 0.9476 | pathogenic | 0.611 | Stabilizing | 1.0 | D | 0.85 | deleterious | D | 0.745306693 | None | None | N |
| D/C | 0.9874 | likely_pathogenic | 0.9889 | pathogenic | 0.357 | Stabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | N |
| D/E | 0.8482 | likely_pathogenic | 0.8891 | pathogenic | -0.547 | Destabilizing | 1.0 | D | 0.605 | neutral | D | 0.731198793 | None | None | N |
| D/F | 0.9836 | likely_pathogenic | 0.9862 | pathogenic | 1.336 | Stabilizing | 1.0 | D | 0.872 | deleterious | None | None | None | None | N |
| D/G | 0.9271 | likely_pathogenic | 0.9467 | pathogenic | 0.152 | Stabilizing | 1.0 | D | 0.791 | deleterious | D | 0.79959616 | None | None | N |
| D/H | 0.9285 | likely_pathogenic | 0.9081 | pathogenic | 0.974 | Stabilizing | 1.0 | D | 0.83 | deleterious | D | 0.56722558 | None | None | N |
| D/I | 0.9802 | likely_pathogenic | 0.9851 | pathogenic | 1.839 | Stabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | N |
| D/K | 0.9806 | likely_pathogenic | 0.9833 | pathogenic | 0.227 | Stabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | N |
| D/L | 0.9719 | likely_pathogenic | 0.9754 | pathogenic | 1.839 | Stabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | N |
| D/M | 0.9831 | likely_pathogenic | 0.9858 | pathogenic | 2.074 | Highly Stabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | N |
| D/N | 0.7248 | likely_pathogenic | 0.7245 | pathogenic | -0.57 | Destabilizing | 1.0 | D | 0.78 | deleterious | D | 0.694929146 | None | None | N |
| D/P | 0.9991 | likely_pathogenic | 0.9993 | pathogenic | 1.461 | Stabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | N |
| D/Q | 0.9707 | likely_pathogenic | 0.9747 | pathogenic | -0.23 | Destabilizing | 1.0 | D | 0.773 | deleterious | None | None | None | None | N |
| D/R | 0.9863 | likely_pathogenic | 0.9882 | pathogenic | 0.272 | Stabilizing | 1.0 | D | 0.87 | deleterious | None | None | None | None | N |
| D/S | 0.9005 | likely_pathogenic | 0.919 | pathogenic | -0.815 | Destabilizing | 1.0 | D | 0.761 | deleterious | None | None | None | None | N |
| D/T | 0.9684 | likely_pathogenic | 0.9753 | pathogenic | -0.398 | Destabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | N |
| D/V | 0.9418 | likely_pathogenic | 0.9539 | pathogenic | 1.461 | Stabilizing | 1.0 | D | 0.847 | deleterious | D | 0.765297821 | None | None | N |
| D/W | 0.9958 | likely_pathogenic | 0.9959 | pathogenic | 1.336 | Stabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | N |
| D/Y | 0.8704 | likely_pathogenic | 0.8705 | pathogenic | 1.591 | Stabilizing | 1.0 | D | 0.868 | deleterious | D | 0.7446353 | 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.