Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 8449 | 25570;25571;25572 | chr2:178717529;178717528;178717527 | chr2:179582256;179582255;179582254 |
| N2AB | 8132 | 24619;24620;24621 | chr2:178717529;178717528;178717527 | chr2:179582256;179582255;179582254 |
| N2A | 7205 | 21838;21839;21840 | chr2:178717529;178717528;178717527 | chr2:179582256;179582255;179582254 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| L/F | None | None | 1.0 | N | 0.606 | 0.265 | 0.340510301474 | gnomAD-4.0.0 | 3.25305E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 2.95648E-05 | 0 |
| L/P | rs756148326  |
-1.522 | 1.0 | N | 0.727 | 0.522 | 0.558927764886 | gnomAD-2.1.1 | 4.18E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 9.2E-06 | 0 |
| L/P | rs756148326 |
-1.522 | 1.0 | N | 0.727 | 0.522 | 0.558927764886 | gnomAD-4.0.0 | 1.62817E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.92449E-06 | 0 | 0 |
| L/V | rs1299720002 |
None | 0.211 | N | 0.171 | 0.143 | 0.176091768786 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| L/V | rs1299720002 |
None | 0.211 | N | 0.171 | 0.143 | 0.176091768786 | gnomAD-4.0.0 | 2.60757E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 4.87505E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| L/A | 0.6338 | likely_pathogenic | 0.5687 | pathogenic | -2.198 | Highly Destabilizing | 0.999 | D | 0.473 | neutral | None | None | None | None | I |
| L/C | 0.7751 | likely_pathogenic | 0.7416 | pathogenic | -1.507 | Destabilizing | 1.0 | D | 0.622 | neutral | None | None | None | None | I |
| L/D | 0.9843 | likely_pathogenic | 0.9777 | pathogenic | -1.885 | Destabilizing | 1.0 | D | 0.727 | prob.delet. | None | None | None | None | I |
| L/E | 0.9283 | likely_pathogenic | 0.905 | pathogenic | -1.768 | Destabilizing | 1.0 | D | 0.749 | deleterious | None | None | None | None | I |
| L/F | 0.3822 | ambiguous | 0.3359 | benign | -1.346 | Destabilizing | 1.0 | D | 0.606 | neutral | N | 0.46346207 | None | None | I |
| L/G | 0.9101 | likely_pathogenic | 0.884 | pathogenic | -2.632 | Highly Destabilizing | 1.0 | D | 0.741 | deleterious | None | None | None | None | I |
| L/H | 0.8234 | likely_pathogenic | 0.7726 | pathogenic | -1.857 | Destabilizing | 1.0 | D | 0.696 | prob.neutral | N | 0.464476028 | None | None | I |
| L/I | 0.0975 | likely_benign | 0.1 | benign | -1.002 | Destabilizing | 0.881 | D | 0.408 | neutral | N | 0.452674231 | None | None | I |
| L/K | 0.8726 | likely_pathogenic | 0.8308 | pathogenic | -1.472 | Destabilizing | 0.999 | D | 0.712 | prob.delet. | None | None | None | None | I |
| L/M | 0.254 | likely_benign | 0.243 | benign | -0.972 | Destabilizing | 0.999 | D | 0.608 | neutral | None | None | None | None | I |
| L/N | 0.9198 | likely_pathogenic | 0.9013 | pathogenic | -1.5 | Destabilizing | 1.0 | D | 0.721 | prob.delet. | None | None | None | None | I |
| L/P | 0.8163 | likely_pathogenic | 0.7518 | pathogenic | -1.376 | Destabilizing | 1.0 | D | 0.727 | prob.delet. | N | 0.464222538 | None | None | I |
| L/Q | 0.7473 | likely_pathogenic | 0.6832 | pathogenic | -1.549 | Destabilizing | 1.0 | D | 0.689 | prob.neutral | None | None | None | None | I |
| L/R | 0.7411 | likely_pathogenic | 0.671 | pathogenic | -1.035 | Destabilizing | 1.0 | D | 0.693 | prob.neutral | N | 0.464222538 | None | None | I |
| L/S | 0.8296 | likely_pathogenic | 0.782 | pathogenic | -2.225 | Highly Destabilizing | 1.0 | D | 0.687 | prob.neutral | None | None | None | None | I |
| L/T | 0.653 | likely_pathogenic | 0.6056 | pathogenic | -1.983 | Destabilizing | 0.998 | D | 0.543 | neutral | None | None | None | None | I |
| L/V | 0.1089 | likely_benign | 0.1114 | benign | -1.376 | Destabilizing | 0.211 | N | 0.171 | neutral | N | 0.369310981 | None | None | I |
| L/W | 0.7706 | likely_pathogenic | 0.7122 | pathogenic | -1.529 | Destabilizing | 1.0 | D | 0.685 | prob.neutral | None | None | None | None | I |
| L/Y | 0.8167 | likely_pathogenic | 0.78 | pathogenic | -1.277 | Destabilizing | 0.999 | D | 0.638 | neutral | None | None | None | None | I |
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.