Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 17237 | 51934;51935;51936 | chr2:178609714;178609713;178609712 | chr2:179474441;179474440;179474439 |
| N2AB | 15596 | 47011;47012;47013 | chr2:178609714;178609713;178609712 | chr2:179474441;179474440;179474439 |
| N2A | 14669 | 44230;44231;44232 | chr2:178609714;178609713;178609712 | chr2:179474441;179474440;179474439 |
| N2B | 8172 | 24739;24740;24741 | chr2:178609714;178609713;178609712 | chr2:179474441;179474440;179474439 |
| Novex-1 | 8297 | 25114;25115;25116 | chr2:178609714;178609713;178609712 | chr2:179474441;179474440;179474439 |
| Novex-2 | 8364 | 25315;25316;25317 | chr2:178609714;178609713;178609712 | chr2:179474441;179474440;179474439 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | rs1353786897  |
-1.042 | 0.997 | N | 0.595 | 0.23 | 0.198526703765 | gnomAD-2.1.1 | 4.11E-06 | None | None | None | None | N | None | 0 | 2.93E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| T/I | rs556967635 |
-0.025 | 0.999 | N | 0.881 | 0.344 | 0.401327265625 | gnomAD-2.1.1 | 9.45E-05 | None | None | None | None | N | None | 6.48E-05 | 0 | None | 0 | 0 | None | 7.49625E-04 | None | 0 | 0 | 0 |
| T/I | rs556967635 |
-0.025 | 0.999 | N | 0.881 | 0.344 | 0.401327265625 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 2.42E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 4.13907E-04 | 0 |
| T/I | rs556967635 |
-0.025 | 0.999 | N | 0.881 | 0.344 | 0.401327265625 | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 8E-04 | 0 | None | None | 0 | 0 | None | None | None | 0 | None |
| T/I | rs556967635 |
-0.025 | 0.999 | N | 0.881 | 0.344 | 0.401327265625 | gnomAD-4.0.0 | 3.9276E-05 | None | None | None | None | N | None | 1.33729E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 6.683E-04 | 3.22373E-05 |
| T/P | None | None | 0.999 | N | 0.872 | 0.291 | 0.379881503574 | gnomAD-4.0.0 | 2.40064E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.625E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.4374 | ambiguous | 0.3149 | benign | -0.861 | Destabilizing | 0.997 | D | 0.595 | neutral | N | 0.468274004 | None | None | N |
| T/C | 0.8445 | likely_pathogenic | 0.756 | pathogenic | -0.547 | Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | N |
| T/D | 0.9855 | likely_pathogenic | 0.9805 | pathogenic | -0.528 | Destabilizing | 0.999 | D | 0.867 | deleterious | None | None | None | None | N |
| T/E | 0.9847 | likely_pathogenic | 0.9762 | pathogenic | -0.429 | Destabilizing | 0.999 | D | 0.86 | deleterious | None | None | None | None | N |
| T/F | 0.9384 | likely_pathogenic | 0.8991 | pathogenic | -0.584 | Destabilizing | 0.999 | D | 0.896 | deleterious | None | None | None | None | N |
| T/G | 0.6928 | likely_pathogenic | 0.5977 | pathogenic | -1.221 | Destabilizing | 0.999 | D | 0.849 | deleterious | None | None | None | None | N |
| T/H | 0.9615 | likely_pathogenic | 0.9373 | pathogenic | -1.432 | Destabilizing | 1.0 | D | 0.901 | deleterious | None | None | None | None | N |
| T/I | 0.8131 | likely_pathogenic | 0.7506 | pathogenic | 0.039 | Stabilizing | 0.999 | D | 0.881 | deleterious | N | 0.468652398 | None | None | N |
| T/K | 0.9732 | likely_pathogenic | 0.9551 | pathogenic | -0.71 | Destabilizing | 0.999 | D | 0.865 | deleterious | None | None | None | None | N |
| T/L | 0.5289 | ambiguous | 0.4687 | ambiguous | 0.039 | Stabilizing | 0.998 | D | 0.727 | deleterious | None | None | None | None | N |
| T/M | 0.4962 | ambiguous | 0.4074 | ambiguous | 0.09 | Stabilizing | 1.0 | D | 0.826 | deleterious | None | None | None | None | N |
| T/N | 0.8303 | likely_pathogenic | 0.786 | pathogenic | -0.941 | Destabilizing | 0.999 | D | 0.782 | deleterious | N | 0.498192318 | None | None | N |
| T/P | 0.7603 | likely_pathogenic | 0.7028 | pathogenic | -0.227 | Destabilizing | 0.999 | D | 0.872 | deleterious | N | 0.475315123 | None | None | N |
| T/Q | 0.9563 | likely_pathogenic | 0.9281 | pathogenic | -0.883 | Destabilizing | 0.999 | D | 0.867 | deleterious | None | None | None | None | N |
| T/R | 0.974 | likely_pathogenic | 0.9538 | pathogenic | -0.717 | Destabilizing | 0.999 | D | 0.871 | deleterious | None | None | None | None | N |
| T/S | 0.3792 | ambiguous | 0.3157 | benign | -1.205 | Destabilizing | 0.997 | D | 0.567 | neutral | N | 0.430126312 | None | None | N |
| T/V | 0.6216 | likely_pathogenic | 0.5399 | ambiguous | -0.227 | Destabilizing | 0.998 | D | 0.606 | neutral | None | None | None | None | N |
| T/W | 0.9899 | likely_pathogenic | 0.9836 | pathogenic | -0.626 | Destabilizing | 1.0 | D | 0.87 | deleterious | None | None | None | None | N |
| T/Y | 0.9725 | likely_pathogenic | 0.9525 | pathogenic | -0.335 | Destabilizing | 1.0 | D | 0.911 | deleterious | 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.