Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2202 | 6829;6830;6831 | chr2:178775107;178775106;178775105 | chr2:179639834;179639833;179639832 |
| N2AB | 2202 | 6829;6830;6831 | chr2:178775107;178775106;178775105 | chr2:179639834;179639833;179639832 |
| N2A | 2202 | 6829;6830;6831 | chr2:178775107;178775106;178775105 | chr2:179639834;179639833;179639832 |
| N2B | 2156 | 6691;6692;6693 | chr2:178775107;178775106;178775105 | chr2:179639834;179639833;179639832 |
| Novex-1 | 2156 | 6691;6692;6693 | chr2:178775107;178775106;178775105 | chr2:179639834;179639833;179639832 |
| Novex-2 | 2156 | 6691;6692;6693 | chr2:178775107;178775106;178775105 | chr2:179639834;179639833;179639832 |
| Novex-3 | 2202 | 6829;6830;6831 | chr2:178775107;178775106;178775105 | chr2:179639834;179639833;179639832 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/L | None | None | 0.999 | N | 0.632 | 0.503 | 0.373537453441 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 1.01626E-03 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| F/S | rs773658956  |
-0.488 | 1.0 | N | 0.697 | 0.584 | 0.774422930106 | gnomAD-2.1.1 | 3.99E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.83E-06 | 0 |
| F/S | rs773658956 |
-0.488 | 1.0 | N | 0.697 | 0.584 | 0.774422930106 | gnomAD-4.0.0 | 7.20193E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 7.87501E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/A | 0.7632 | likely_pathogenic | 0.7586 | pathogenic | -1.051 | Destabilizing | 1.0 | D | 0.658 | neutral | None | None | None | None | N |
| F/C | 0.7561 | likely_pathogenic | 0.7304 | pathogenic | -0.401 | Destabilizing | 1.0 | D | 0.699 | prob.neutral | D | 0.530107478 | None | None | N |
| F/D | 0.9107 | likely_pathogenic | 0.9073 | pathogenic | 0.394 | Stabilizing | 1.0 | D | 0.667 | neutral | None | None | None | None | N |
| F/E | 0.9315 | likely_pathogenic | 0.9296 | pathogenic | 0.376 | Stabilizing | 1.0 | D | 0.663 | neutral | None | None | None | None | N |
| F/G | 0.9011 | likely_pathogenic | 0.8948 | pathogenic | -1.25 | Destabilizing | 1.0 | D | 0.677 | prob.neutral | None | None | None | None | N |
| F/H | 0.7484 | likely_pathogenic | 0.7439 | pathogenic | 0.161 | Stabilizing | 1.0 | D | 0.66 | neutral | None | None | None | None | N |
| F/I | 0.5916 | likely_pathogenic | 0.5794 | pathogenic | -0.533 | Destabilizing | 1.0 | D | 0.711 | prob.delet. | N | 0.509150031 | None | None | N |
| F/K | 0.942 | likely_pathogenic | 0.9434 | pathogenic | -0.258 | Destabilizing | 1.0 | D | 0.665 | neutral | None | None | None | None | N |
| F/L | 0.9268 | likely_pathogenic | 0.9184 | pathogenic | -0.533 | Destabilizing | 0.999 | D | 0.632 | neutral | N | 0.50529226 | None | None | N |
| F/M | 0.7377 | likely_pathogenic | 0.7289 | pathogenic | -0.481 | Destabilizing | 1.0 | D | 0.698 | prob.neutral | None | None | None | None | N |
| F/N | 0.7826 | likely_pathogenic | 0.7728 | pathogenic | -0.249 | Destabilizing | 1.0 | D | 0.672 | neutral | None | None | None | None | N |
| F/P | 0.9899 | likely_pathogenic | 0.9897 | pathogenic | -0.688 | Destabilizing | 1.0 | D | 0.671 | neutral | None | None | None | None | N |
| F/Q | 0.8997 | likely_pathogenic | 0.8952 | pathogenic | -0.308 | Destabilizing | 1.0 | D | 0.673 | neutral | None | None | None | None | N |
| F/R | 0.8669 | likely_pathogenic | 0.8713 | pathogenic | 0.228 | Stabilizing | 1.0 | D | 0.673 | neutral | None | None | None | None | N |
| F/S | 0.6257 | likely_pathogenic | 0.6181 | pathogenic | -0.874 | Destabilizing | 1.0 | D | 0.697 | prob.neutral | N | 0.486096908 | None | None | N |
| F/T | 0.7507 | likely_pathogenic | 0.7492 | pathogenic | -0.797 | Destabilizing | 1.0 | D | 0.695 | prob.neutral | None | None | None | None | N |
| F/V | 0.5372 | ambiguous | 0.524 | ambiguous | -0.688 | Destabilizing | 1.0 | D | 0.676 | prob.neutral | N | 0.497899319 | None | None | N |
| F/W | 0.6866 | likely_pathogenic | 0.69 | pathogenic | -0.363 | Destabilizing | 1.0 | D | 0.69 | prob.neutral | None | None | None | None | N |
| F/Y | 0.2484 | likely_benign | 0.2432 | benign | -0.371 | Destabilizing | 0.999 | D | 0.617 | neutral | D | 0.529001762 | 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.