Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 21515 | 64768;64769;64770 | chr2:178585201;178585200;178585199 | chr2:179449928;179449927;179449926 |
| N2AB | 19874 | 59845;59846;59847 | chr2:178585201;178585200;178585199 | chr2:179449928;179449927;179449926 |
| N2A | 18947 | 57064;57065;57066 | chr2:178585201;178585200;178585199 | chr2:179449928;179449927;179449926 |
| N2B | 12450 | 37573;37574;37575 | chr2:178585201;178585200;178585199 | chr2:179449928;179449927;179449926 |
| Novex-1 | 12575 | 37948;37949;37950 | chr2:178585201;178585200;178585199 | chr2:179449928;179449927;179449926 |
| Novex-2 | 12642 | 38149;38150;38151 | chr2:178585201;178585200;178585199 | chr2:179449928;179449927;179449926 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | rs1443712213  |
-1.735 | 0.334 | D | 0.449 | 0.38 | 0.635842297619 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.57E-05 | None | 0 | None | 0 | 0 | 0 |
| V/A | rs1443712213 |
-1.735 | 0.334 | D | 0.449 | 0.38 | 0.635842297619 | gnomAD-4.0.0 | 1.59217E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.77393E-05 | None | 0 | 0 | 0 | 0 | 0 |
| V/L | None | None | 0.034 | N | 0.397 | 0.145 | 0.340510301474 | gnomAD-4.0.0 | 1.59219E-06 | None | None | None | None | N | None | 5.66187E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/M | rs1277307313 |
-0.226 | 0.638 | D | 0.723 | 0.341 | 0.473538153929 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.93E-06 | 0 |
| V/M | rs1277307313 |
-0.226 | 0.638 | D | 0.723 | 0.341 | 0.473538153929 | gnomAD-4.0.0 | 1.59219E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86044E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.3505 | ambiguous | 0.3426 | ambiguous | -1.772 | Destabilizing | 0.334 | N | 0.449 | neutral | D | 0.538700224 | None | None | N |
| V/C | 0.8126 | likely_pathogenic | 0.7835 | pathogenic | -0.993 | Destabilizing | 0.982 | D | 0.779 | deleterious | None | None | None | None | N |
| V/D | 0.7856 | likely_pathogenic | 0.7651 | pathogenic | -1.847 | Destabilizing | 0.826 | D | 0.829 | deleterious | None | None | None | None | N |
| V/E | 0.5706 | likely_pathogenic | 0.5577 | ambiguous | -1.779 | Destabilizing | 0.781 | D | 0.777 | deleterious | N | 0.509123999 | None | None | N |
| V/F | 0.2115 | likely_benign | 0.2042 | benign | -1.23 | Destabilizing | 0.7 | D | 0.779 | deleterious | None | None | None | None | N |
| V/G | 0.5179 | ambiguous | 0.4968 | ambiguous | -2.165 | Highly Destabilizing | 0.781 | D | 0.799 | deleterious | D | 0.526974765 | None | None | N |
| V/H | 0.7983 | likely_pathogenic | 0.7859 | pathogenic | -1.801 | Destabilizing | 0.982 | D | 0.843 | deleterious | None | None | None | None | N |
| V/I | 0.0653 | likely_benign | 0.0679 | benign | -0.752 | Destabilizing | 0.002 | N | 0.255 | neutral | None | None | None | None | N |
| V/K | 0.6573 | likely_pathogenic | 0.648 | pathogenic | -1.543 | Destabilizing | 0.826 | D | 0.781 | deleterious | None | None | None | None | N |
| V/L | 0.2114 | likely_benign | 0.2017 | benign | -0.752 | Destabilizing | 0.034 | N | 0.397 | neutral | N | 0.482364152 | None | None | N |
| V/M | 0.17 | likely_benign | 0.1717 | benign | -0.489 | Destabilizing | 0.638 | D | 0.723 | prob.delet. | D | 0.522287977 | None | None | N |
| V/N | 0.5794 | likely_pathogenic | 0.5674 | pathogenic | -1.378 | Destabilizing | 0.935 | D | 0.838 | deleterious | None | None | None | None | N |
| V/P | 0.8568 | likely_pathogenic | 0.8313 | pathogenic | -1.06 | Destabilizing | 0.935 | D | 0.813 | deleterious | None | None | None | None | N |
| V/Q | 0.5717 | likely_pathogenic | 0.5585 | ambiguous | -1.459 | Destabilizing | 0.935 | D | 0.819 | deleterious | None | None | None | None | N |
| V/R | 0.6205 | likely_pathogenic | 0.5933 | pathogenic | -1.092 | Destabilizing | 0.826 | D | 0.84 | deleterious | None | None | None | None | N |
| V/S | 0.4405 | ambiguous | 0.4315 | ambiguous | -1.901 | Destabilizing | 0.826 | D | 0.767 | deleterious | None | None | None | None | N |
| V/T | 0.3049 | likely_benign | 0.3117 | benign | -1.721 | Destabilizing | 0.399 | N | 0.623 | neutral | None | None | None | None | N |
| V/W | 0.8755 | likely_pathogenic | 0.8573 | pathogenic | -1.558 | Destabilizing | 0.982 | D | 0.823 | deleterious | None | None | None | None | N |
| V/Y | 0.6711 | likely_pathogenic | 0.6352 | pathogenic | -1.248 | Destabilizing | 0.826 | D | 0.801 | 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.