Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 28639 | 86140;86141;86142 | chr2:178560217;178560216;178560215 | chr2:179424944;179424943;179424942 |
| N2AB | 26998 | 81217;81218;81219 | chr2:178560217;178560216;178560215 | chr2:179424944;179424943;179424942 |
| N2A | 26071 | 78436;78437;78438 | chr2:178560217;178560216;178560215 | chr2:179424944;179424943;179424942 |
| N2B | 19574 | 58945;58946;58947 | chr2:178560217;178560216;178560215 | chr2:179424944;179424943;179424942 |
| Novex-1 | 19699 | 59320;59321;59322 | chr2:178560217;178560216;178560215 | chr2:179424944;179424943;179424942 |
| Novex-2 | 19766 | 59521;59522;59523 | chr2:178560217;178560216;178560215 | chr2:179424944;179424943;179424942 |
| 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 | rs1198379778  |
-1.15 | None | N | 0.232 | 0.16 | 0.0297737177859 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.87E-06 | 0 |
| T/A | rs1198379778 |
-1.15 | None | N | 0.232 | 0.16 | 0.0297737177859 | gnomAD-3.1.2 | 6.6E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| T/A | rs1198379778 |
-1.15 | None | N | 0.232 | 0.16 | 0.0297737177859 | gnomAD-4.0.0 | 3.09977E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 4.23858E-06 | 0 | 0 |
| T/N | rs1316337733 |
-0.869 | 0.013 | N | 0.639 | 0.109 | 0.18995819373 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.88E-06 | 0 |
| T/N | rs1316337733 |
-0.869 | 0.013 | N | 0.639 | 0.109 | 0.18995819373 | gnomAD-4.0.0 | 1.5912E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.8582E-06 | 0 | 0 |
| T/P | None | None | None | N | 0.444 | 0.137 | 0.0297737177859 | gnomAD-4.0.0 | 6.84204E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99465E-07 | 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 | 0.0607 | likely_benign | 0.0579 | benign | -0.804 | Destabilizing | None | N | 0.232 | neutral | N | 0.416101009 | None | None | N |
| T/C | 0.2286 | likely_benign | 0.2325 | benign | -0.492 | Destabilizing | None | N | 0.569 | neutral | None | None | None | None | N |
| T/D | 0.3306 | likely_benign | 0.2916 | benign | 0.281 | Stabilizing | 0.018 | N | 0.705 | prob.delet. | None | None | None | None | N |
| T/E | 0.2537 | likely_benign | 0.2196 | benign | 0.272 | Stabilizing | 0.018 | N | 0.727 | deleterious | None | None | None | None | N |
| T/F | 0.1913 | likely_benign | 0.1811 | benign | -0.956 | Destabilizing | 0.204 | N | 0.689 | prob.delet. | None | None | None | None | N |
| T/G | 0.1767 | likely_benign | 0.1517 | benign | -1.036 | Destabilizing | 0.007 | N | 0.626 | neutral | None | None | None | None | N |
| T/H | 0.2247 | likely_benign | 0.201 | benign | -1.22 | Destabilizing | 0.492 | N | 0.671 | prob.neutral | None | None | None | None | N |
| T/I | 0.0972 | likely_benign | 0.0891 | benign | -0.284 | Destabilizing | 0.026 | N | 0.769 | deleterious | N | 0.45167502 | None | None | N |
| T/K | 0.18 | likely_benign | 0.1661 | benign | -0.56 | Destabilizing | 0.018 | N | 0.726 | deleterious | None | None | None | None | N |
| T/L | 0.0794 | likely_benign | 0.0762 | benign | -0.284 | Destabilizing | 0.007 | N | 0.646 | neutral | None | None | None | None | N |
| T/M | 0.0791 | likely_benign | 0.0764 | benign | -0.106 | Destabilizing | 0.439 | N | 0.654 | prob.neutral | None | None | None | None | N |
| T/N | 0.0978 | likely_benign | 0.0938 | benign | -0.457 | Destabilizing | 0.013 | N | 0.639 | neutral | N | 0.467607264 | None | None | N |
| T/P | 0.0562 | likely_benign | 0.0489 | benign | -0.426 | Destabilizing | None | N | 0.444 | neutral | N | 0.326825798 | None | None | N |
| T/Q | 0.1942 | likely_benign | 0.1705 | benign | -0.593 | Destabilizing | 0.112 | N | 0.781 | deleterious | None | None | None | None | N |
| T/R | 0.1696 | likely_benign | 0.1583 | benign | -0.349 | Destabilizing | 0.112 | N | 0.797 | deleterious | None | None | None | None | N |
| T/S | 0.0907 | likely_benign | 0.0888 | benign | -0.807 | Destabilizing | None | N | 0.284 | neutral | N | 0.403267784 | None | None | N |
| T/V | 0.0856 | likely_benign | 0.0793 | benign | -0.426 | Destabilizing | 0.007 | N | 0.467 | neutral | None | None | None | None | N |
| T/W | 0.5891 | likely_pathogenic | 0.5566 | ambiguous | -0.872 | Destabilizing | 0.747 | D | 0.707 | prob.delet. | None | None | None | None | N |
| T/Y | 0.2418 | likely_benign | 0.2233 | benign | -0.637 | Destabilizing | 0.204 | N | 0.685 | prob.delet. | 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.