Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 8851 | 26776;26777;26778 | chr2:178714107;178714106;178714105 | chr2:179578834;179578833;179578832 |
| N2AB | 8534 | 25825;25826;25827 | chr2:178714107;178714106;178714105 | chr2:179578834;179578833;179578832 |
| N2A | 7607 | 23044;23045;23046 | chr2:178714107;178714106;178714105 | chr2:179578834;179578833;179578832 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/G | rs558169834  |
-2.459 | 0.999 | D | 0.861 | 0.563 | None | gnomAD-2.1.1 | 3.22E-05 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 6.21E-05 | 0 |
| C/G | rs558169834 |
-2.459 | 0.999 | D | 0.861 | 0.563 | None | gnomAD-3.1.2 | 2.63E-05 | None | None | None | None | N | None | 2.42E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 4.41E-05 | 0 | 0 |
| C/G | rs558169834 |
-2.459 | 0.999 | D | 0.861 | 0.563 | None | gnomAD-4.0.0 | 7.12768E-05 | None | None | None | None | N | None | 1.33593E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 9.49397E-05 | 0 | 3.20277E-05 |
| C/Y | rs398124444 |
-1.671 | 0.999 | D | 0.858 | 0.554 | 0.796275195805 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 6.48E-05 | 0 |
| C/Y | rs398124444 |
-1.671 | 0.999 | D | 0.858 | 0.554 | 0.796275195805 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| C/Y | rs398124444 |
-1.671 | 0.999 | D | 0.858 | 0.554 | 0.796275195805 | gnomAD-4.0.0 | 4.95785E-06 | None | None | None | None | N | None | 1.33526E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 5.93343E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/A | 0.6416 | likely_pathogenic | 0.7479 | pathogenic | -1.634 | Destabilizing | 0.964 | D | 0.673 | neutral | None | None | None | None | N |
| C/D | 0.9887 | likely_pathogenic | 0.995 | pathogenic | -1.501 | Destabilizing | 0.999 | D | 0.892 | deleterious | None | None | None | None | N |
| C/E | 0.994 | likely_pathogenic | 0.9972 | pathogenic | -1.248 | Destabilizing | 0.999 | D | 0.893 | deleterious | None | None | None | None | N |
| C/F | 0.467 | ambiguous | 0.6792 | pathogenic | -0.991 | Destabilizing | 0.997 | D | 0.861 | deleterious | D | 0.552203865 | None | None | N |
| C/G | 0.4112 | ambiguous | 0.5634 | ambiguous | -2.018 | Highly Destabilizing | 0.999 | D | 0.861 | deleterious | D | 0.552203865 | None | None | N |
| C/H | 0.968 | likely_pathogenic | 0.9878 | pathogenic | -2.22 | Highly Destabilizing | 1.0 | D | 0.889 | deleterious | None | None | None | None | N |
| C/I | 0.5609 | ambiguous | 0.6297 | pathogenic | -0.59 | Destabilizing | 0.971 | D | 0.76 | deleterious | None | None | None | None | N |
| C/K | 0.9953 | likely_pathogenic | 0.998 | pathogenic | -1.042 | Destabilizing | 0.999 | D | 0.883 | deleterious | None | None | None | None | N |
| C/L | 0.6755 | likely_pathogenic | 0.762 | pathogenic | -0.59 | Destabilizing | 0.931 | D | 0.763 | deleterious | None | None | None | None | N |
| C/M | 0.7881 | likely_pathogenic | 0.85 | pathogenic | 0.32 | Stabilizing | 0.998 | D | 0.819 | deleterious | None | None | None | None | N |
| C/N | 0.9451 | likely_pathogenic | 0.9726 | pathogenic | -1.741 | Destabilizing | 0.999 | D | 0.88 | deleterious | None | None | None | None | N |
| C/P | 0.9958 | likely_pathogenic | 0.9978 | pathogenic | -0.915 | Destabilizing | 0.999 | D | 0.893 | deleterious | None | None | None | None | N |
| C/Q | 0.9853 | likely_pathogenic | 0.9931 | pathogenic | -1.227 | Destabilizing | 0.999 | D | 0.899 | deleterious | None | None | None | None | N |
| C/R | 0.9679 | likely_pathogenic | 0.9858 | pathogenic | -1.504 | Destabilizing | 0.999 | D | 0.884 | deleterious | D | 0.540936465 | None | None | N |
| C/S | 0.6875 | likely_pathogenic | 0.8184 | pathogenic | -2.039 | Highly Destabilizing | 0.99 | D | 0.817 | deleterious | D | 0.522743305 | None | None | N |
| C/T | 0.7554 | likely_pathogenic | 0.8333 | pathogenic | -1.587 | Destabilizing | 0.985 | D | 0.785 | deleterious | None | None | None | None | N |
| C/V | 0.4045 | ambiguous | 0.4541 | ambiguous | -0.915 | Destabilizing | 0.271 | N | 0.575 | neutral | None | None | None | None | N |
| C/W | 0.8786 | likely_pathogenic | 0.9612 | pathogenic | -1.387 | Destabilizing | 1.0 | D | 0.867 | deleterious | D | 0.552457355 | None | None | N |
| C/Y | 0.6285 | likely_pathogenic | 0.8454 | pathogenic | -1.186 | Destabilizing | 0.999 | D | 0.858 | deleterious | D | 0.52932667 | 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.