Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 32715 | 98368;98369;98370 | chr2:178539922;178539921;178539920 | chr2:179404649;179404648;179404647 |
| N2AB | 31074 | 93445;93446;93447 | chr2:178539922;178539921;178539920 | chr2:179404649;179404648;179404647 |
| N2A | 30147 | 90664;90665;90666 | chr2:178539922;178539921;178539920 | chr2:179404649;179404648;179404647 |
| N2B | 23650 | 71173;71174;71175 | chr2:178539922;178539921;178539920 | chr2:179404649;179404648;179404647 |
| Novex-1 | 23775 | 71548;71549;71550 | chr2:178539922;178539921;178539920 | chr2:179404649;179404648;179404647 |
| Novex-2 | 23842 | 71749;71750;71751 | chr2:178539922;178539921;178539920 | chr2:179404649;179404648;179404647 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/L | rs1693570743  |
None | None | N | 0.11 | 0.081 | 0.374970422459 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| F/L | rs1693570743 |
None | None | N | 0.11 | 0.081 | 0.374970422459 | gnomAD-4.0.0 | 6.5703E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.47007E-05 | 0 | 0 |
| F/S | None | None | None | N | 0.209 | 0.244 | 0.420447328233 | gnomAD-4.0.0 | 1.59133E-06 | None | None | None | None | N | None | 0 | 2.28655E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| F/V | None | None | None | N | 0.131 | 0.1 | 0.466740653422 | gnomAD-4.0.0 | 9.57915E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.25929E-05 | 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 | 0.2389 | likely_benign | 0.19 | benign | -1.485 | Destabilizing | 0.002 | N | 0.295 | neutral | None | None | None | None | N |
| F/C | 0.1719 | likely_benign | 0.1622 | benign | -0.811 | Destabilizing | None | N | 0.283 | neutral | N | 0.474029883 | None | None | N |
| F/D | 0.5071 | ambiguous | 0.4417 | ambiguous | 0.371 | Stabilizing | 0.044 | N | 0.468 | neutral | None | None | None | None | N |
| F/E | 0.5188 | ambiguous | 0.4654 | ambiguous | 0.412 | Stabilizing | 0.018 | N | 0.437 | neutral | None | None | None | None | N |
| F/G | 0.5743 | likely_pathogenic | 0.4875 | ambiguous | -1.745 | Destabilizing | 0.009 | N | 0.346 | neutral | None | None | None | None | N |
| F/H | 0.314 | likely_benign | 0.2741 | benign | -0.004 | Destabilizing | 0.245 | N | 0.353 | neutral | None | None | None | None | N |
| F/I | 0.0948 | likely_benign | 0.0775 | benign | -0.758 | Destabilizing | 0.003 | N | 0.268 | neutral | N | 0.384986747 | None | None | N |
| F/K | 0.565 | likely_pathogenic | 0.492 | ambiguous | -0.677 | Destabilizing | 0.009 | N | 0.393 | neutral | None | None | None | None | N |
| F/L | 0.5103 | ambiguous | 0.3982 | ambiguous | -0.758 | Destabilizing | None | N | 0.11 | neutral | N | 0.433740699 | None | None | N |
| F/M | 0.2162 | likely_benign | 0.1863 | benign | -0.692 | Destabilizing | 0.002 | N | 0.212 | neutral | None | None | None | None | N |
| F/N | 0.2812 | likely_benign | 0.2463 | benign | -0.757 | Destabilizing | 0.022 | N | 0.503 | neutral | None | None | None | None | N |
| F/P | 0.8222 | likely_pathogenic | 0.7337 | pathogenic | -0.987 | Destabilizing | 0.085 | N | 0.502 | neutral | None | None | None | None | N |
| F/Q | 0.4408 | ambiguous | 0.3997 | ambiguous | -0.766 | Destabilizing | 0.044 | N | 0.519 | neutral | None | None | None | None | N |
| F/R | 0.4558 | ambiguous | 0.3949 | ambiguous | -0.13 | Destabilizing | 0.044 | N | 0.507 | neutral | None | None | None | None | N |
| F/S | 0.1615 | likely_benign | 0.129 | benign | -1.528 | Destabilizing | None | N | 0.209 | neutral | N | 0.42748673 | None | None | N |
| F/T | 0.1367 | likely_benign | 0.119 | benign | -1.397 | Destabilizing | None | N | 0.193 | neutral | None | None | None | None | N |
| F/V | 0.0897 | likely_benign | 0.0771 | benign | -0.987 | Destabilizing | None | N | 0.131 | neutral | N | 0.380674218 | None | None | N |
| F/W | 0.3479 | ambiguous | 0.3111 | benign | -0.067 | Destabilizing | 0.497 | N | 0.381 | neutral | None | None | None | None | N |
| F/Y | 0.1213 | likely_benign | 0.114 | benign | -0.246 | Destabilizing | 0.065 | N | 0.372 | neutral | N | 0.484900238 | 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.