Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2190 | 6793;6794;6795 | chr2:178775143;178775142;178775141 | chr2:179639870;179639869;179639868 |
| N2AB | 2190 | 6793;6794;6795 | chr2:178775143;178775142;178775141 | chr2:179639870;179639869;179639868 |
| N2A | 2190 | 6793;6794;6795 | chr2:178775143;178775142;178775141 | chr2:179639870;179639869;179639868 |
| N2B | 2144 | 6655;6656;6657 | chr2:178775143;178775142;178775141 | chr2:179639870;179639869;179639868 |
| Novex-1 | 2144 | 6655;6656;6657 | chr2:178775143;178775142;178775141 | chr2:179639870;179639869;179639868 |
| Novex-2 | 2144 | 6655;6656;6657 | chr2:178775143;178775142;178775141 | chr2:179639870;179639869;179639868 |
| Novex-3 | 2190 | 6793;6794;6795 | chr2:178775143;178775142;178775141 | chr2:179639870;179639869;179639868 |
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 | rs1204873968  |
-0.743 | 0.271 | N | 0.433 | 0.184 | 0.223146558224 | 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 |
| T/A | rs1204873968 |
-0.743 | 0.271 | N | 0.433 | 0.184 | 0.223146558224 | 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 |
| T/A | rs1204873968 |
-0.743 | 0.271 | N | 0.433 | 0.184 | 0.223146558224 | gnomAD-4.0.0 | 2.47841E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.38989E-06 | 0 | 0 |
| T/I | rs767577772 |
-0.179 | 0.928 | D | 0.721 | 0.417 | 0.520803792171 | gnomAD-2.1.1 | 1.2E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 2.65E-05 | 0 |
| T/I | rs767577772 |
-0.179 | 0.928 | D | 0.721 | 0.417 | 0.520803792171 | 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 |
| T/I | rs767577772 |
-0.179 | 0.928 | D | 0.721 | 0.417 | 0.520803792171 | gnomAD-4.0.0 | 3.84227E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 7.17573E-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 | 0.1068 | likely_benign | 0.099 | benign | -0.359 | Destabilizing | 0.271 | N | 0.433 | neutral | N | 0.470496023 | None | None | N |
| T/C | 0.6257 | likely_pathogenic | 0.5975 | pathogenic | -0.158 | Destabilizing | 0.995 | D | 0.706 | prob.neutral | None | None | None | None | N |
| T/D | 0.4685 | ambiguous | 0.4579 | ambiguous | 0.106 | Stabilizing | 0.893 | D | 0.644 | neutral | None | None | None | None | N |
| T/E | 0.4187 | ambiguous | 0.4062 | ambiguous | 0.022 | Stabilizing | 0.893 | D | 0.636 | neutral | None | None | None | None | N |
| T/F | 0.3636 | ambiguous | 0.3708 | ambiguous | -0.856 | Destabilizing | 0.944 | D | 0.795 | deleterious | None | None | None | None | N |
| T/G | 0.266 | likely_benign | 0.2544 | benign | -0.483 | Destabilizing | 0.545 | D | 0.558 | neutral | None | None | None | None | N |
| T/H | 0.3443 | ambiguous | 0.3307 | benign | -0.76 | Destabilizing | 0.985 | D | 0.759 | deleterious | None | None | None | None | N |
| T/I | 0.317 | likely_benign | 0.3159 | benign | -0.152 | Destabilizing | 0.928 | D | 0.721 | prob.delet. | D | 0.593639268 | None | None | N |
| T/K | 0.2727 | likely_benign | 0.2703 | benign | -0.33 | Destabilizing | 0.807 | D | 0.646 | neutral | None | None | None | None | N |
| T/L | 0.1597 | likely_benign | 0.1557 | benign | -0.152 | Destabilizing | 0.705 | D | 0.555 | neutral | None | None | None | None | N |
| T/M | 0.1358 | likely_benign | 0.1291 | benign | 0.087 | Stabilizing | 0.995 | D | 0.705 | prob.neutral | None | None | None | None | N |
| T/N | 0.1324 | likely_benign | 0.1274 | benign | -0.045 | Destabilizing | 0.76 | D | 0.604 | neutral | N | 0.504905089 | None | None | N |
| T/P | 0.1851 | likely_benign | 0.1704 | benign | -0.193 | Destabilizing | 0.928 | D | 0.722 | prob.delet. | N | 0.492144054 | None | None | N |
| T/Q | 0.3264 | likely_benign | 0.3086 | benign | -0.314 | Destabilizing | 0.893 | D | 0.727 | prob.delet. | None | None | None | None | N |
| T/R | 0.2372 | likely_benign | 0.2375 | benign | -0.016 | Destabilizing | 0.893 | D | 0.735 | prob.delet. | None | None | None | None | N |
| T/S | 0.1118 | likely_benign | 0.1074 | benign | -0.263 | Destabilizing | 0.024 | N | 0.189 | neutral | N | 0.445060701 | None | None | N |
| T/V | 0.2159 | likely_benign | 0.2137 | benign | -0.193 | Destabilizing | 0.705 | D | 0.51 | neutral | None | None | None | None | N |
| T/W | 0.7527 | likely_pathogenic | 0.7597 | pathogenic | -0.853 | Destabilizing | 0.995 | D | 0.783 | deleterious | None | None | None | None | N |
| T/Y | 0.4008 | ambiguous | 0.4047 | ambiguous | -0.575 | Destabilizing | 0.981 | D | 0.788 | 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.