Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 14685 | 44278;44279;44280 | chr2:178630905;178630904;178630903 | chr2:179495632;179495631;179495630 |
| N2AB | 13044 | 39355;39356;39357 | chr2:178630905;178630904;178630903 | chr2:179495632;179495631;179495630 |
| N2A | 12117 | 36574;36575;36576 | chr2:178630905;178630904;178630903 | chr2:179495632;179495631;179495630 |
| N2B | 5620 | 17083;17084;17085 | chr2:178630905;178630904;178630903 | chr2:179495632;179495631;179495630 |
| Novex-1 | 5745 | 17458;17459;17460 | chr2:178630905;178630904;178630903 | chr2:179495632;179495631;179495630 |
| Novex-2 | 5812 | 17659;17660;17661 | chr2:178630905;178630904;178630903 | chr2:179495632;179495631;179495630 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/K | rs1473069344  |
0.47 | 0.997 | N | 0.74 | 0.385 | 0.227260227426 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.9E-06 | 0 |
| E/K | rs1473069344 |
0.47 | 0.997 | N | 0.74 | 0.385 | 0.227260227426 | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 3.87747E-04 | None | 0 | 0 | 0 | 0 | 0 |
| E/K | rs1473069344 |
0.47 | 0.997 | N | 0.74 | 0.385 | 0.227260227426 | gnomAD-4.0.0 | 1.79467E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.6777E-04 | None | 0 | 0 | 7.18353E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/A | 0.5488 | ambiguous | 0.4157 | ambiguous | -0.503 | Destabilizing | 0.997 | D | 0.748 | deleterious | D | 0.577450828 | None | None | N |
| E/C | 0.9864 | likely_pathogenic | 0.9709 | pathogenic | -0.35 | Destabilizing | 1.0 | D | 0.689 | prob.delet. | None | None | None | None | N |
| E/D | 0.4982 | ambiguous | 0.4367 | ambiguous | -0.672 | Destabilizing | 0.997 | D | 0.616 | neutral | N | 0.478326357 | None | None | N |
| E/F | 0.9729 | likely_pathogenic | 0.9541 | pathogenic | -0.105 | Destabilizing | 1.0 | D | 0.672 | prob.neutral | None | None | None | None | N |
| E/G | 0.8007 | likely_pathogenic | 0.6599 | pathogenic | -0.765 | Destabilizing | 0.999 | D | 0.621 | neutral | D | 0.57948222 | None | None | N |
| E/H | 0.9318 | likely_pathogenic | 0.8718 | pathogenic | 0.069 | Stabilizing | 1.0 | D | 0.588 | neutral | None | None | None | None | N |
| E/I | 0.8048 | likely_pathogenic | 0.7345 | pathogenic | 0.178 | Stabilizing | 0.999 | D | 0.693 | prob.delet. | None | None | None | None | N |
| E/K | 0.776 | likely_pathogenic | 0.5936 | pathogenic | -0.031 | Destabilizing | 0.997 | D | 0.74 | deleterious | N | 0.476604538 | None | None | N |
| E/L | 0.8933 | likely_pathogenic | 0.8251 | pathogenic | 0.178 | Stabilizing | 0.999 | D | 0.655 | prob.neutral | None | None | None | None | N |
| E/M | 0.8492 | likely_pathogenic | 0.7746 | pathogenic | 0.216 | Stabilizing | 1.0 | D | 0.691 | prob.delet. | None | None | None | None | N |
| E/N | 0.8097 | likely_pathogenic | 0.7145 | pathogenic | -0.531 | Destabilizing | 0.999 | D | 0.727 | deleterious | None | None | None | None | N |
| E/P | 0.985 | likely_pathogenic | 0.9711 | pathogenic | -0.028 | Destabilizing | 0.999 | D | 0.712 | prob.delet. | None | None | None | None | N |
| E/Q | 0.5447 | ambiguous | 0.3971 | ambiguous | -0.451 | Destabilizing | 0.999 | D | 0.683 | prob.neutral | N | 0.450173282 | None | None | N |
| E/R | 0.8763 | likely_pathogenic | 0.7447 | pathogenic | 0.317 | Stabilizing | 0.999 | D | 0.719 | prob.delet. | None | None | None | None | N |
| E/S | 0.6126 | likely_pathogenic | 0.4923 | ambiguous | -0.69 | Destabilizing | 0.998 | D | 0.719 | prob.delet. | None | None | None | None | N |
| E/T | 0.5594 | ambiguous | 0.4519 | ambiguous | -0.475 | Destabilizing | 0.999 | D | 0.744 | deleterious | None | None | None | None | N |
| E/V | 0.5577 | ambiguous | 0.4667 | ambiguous | -0.028 | Destabilizing | 0.999 | D | 0.664 | prob.neutral | N | 0.512580366 | None | None | N |
| E/W | 0.9926 | likely_pathogenic | 0.9849 | pathogenic | 0.116 | Stabilizing | 1.0 | D | 0.687 | prob.delet. | None | None | None | None | N |
| E/Y | 0.9641 | likely_pathogenic | 0.9383 | pathogenic | 0.143 | Stabilizing | 1.0 | D | 0.681 | 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.