Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 32362 | 97309;97310;97311 | chr2:178542770;178542769;178542768 | chr2:179407497;179407496;179407495 |
| N2AB | 30721 | 92386;92387;92388 | chr2:178542770;178542769;178542768 | chr2:179407497;179407496;179407495 |
| N2A | 29794 | 89605;89606;89607 | chr2:178542770;178542769;178542768 | chr2:179407497;179407496;179407495 |
| N2B | 23297 | 70114;70115;70116 | chr2:178542770;178542769;178542768 | chr2:179407497;179407496;179407495 |
| Novex-1 | 23422 | 70489;70490;70491 | chr2:178542770;178542769;178542768 | chr2:179407497;179407496;179407495 |
| Novex-2 | 23489 | 70690;70691;70692 | chr2:178542770;178542769;178542768 | chr2:179407497;179407496;179407495 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/G | rs773773028  |
-1.748 | 0.027 | N | 0.697 | 0.193 | 0.16115917748 | gnomAD-2.1.1 | 8.05E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 6.54E-05 | None | 0 | 0 | 0 |
| A/G | rs773773028 |
-1.748 | 0.027 | N | 0.697 | 0.193 | 0.16115917748 | gnomAD-4.0.0 | 2.05261E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.9947E-07 | 2.31873E-05 | 0 |
| A/V | rs773773028 |
0.59 | 0.062 | N | 0.727 | 0.137 | 0.270889551736 | gnomAD-2.1.1 | 4.83E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 6.12336E-04 | None | 0 | None | 0 | 8.9E-06 | 0 |
| A/V | rs773773028 |
0.59 | 0.062 | N | 0.727 | 0.137 | 0.270889551736 | gnomAD-4.0.0 | 1.09473E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 3.52698E-04 | None | 0 | 0 | 0 | 0 | 3.31334E-05 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.4233 | ambiguous | 0.4158 | ambiguous | -0.883 | Destabilizing | 0.824 | D | 0.778 | deleterious | None | None | None | None | N |
| A/D | 0.9125 | likely_pathogenic | 0.8967 | pathogenic | -2.461 | Highly Destabilizing | 0.117 | N | 0.769 | deleterious | N | 0.479682766 | None | None | N |
| A/E | 0.8517 | likely_pathogenic | 0.8386 | pathogenic | -2.194 | Highly Destabilizing | 0.149 | N | 0.761 | deleterious | None | None | None | None | N |
| A/F | 0.6905 | likely_pathogenic | 0.6826 | pathogenic | -0.51 | Destabilizing | 0.555 | D | 0.789 | deleterious | None | None | None | None | N |
| A/G | 0.3006 | likely_benign | 0.2534 | benign | -1.461 | Destabilizing | 0.027 | N | 0.697 | prob.neutral | N | 0.406262443 | None | None | N |
| A/H | 0.868 | likely_pathogenic | 0.8767 | pathogenic | -2.15 | Highly Destabilizing | 0.824 | D | 0.772 | deleterious | None | None | None | None | N |
| A/I | 0.3423 | ambiguous | 0.3178 | benign | 0.576 | Stabilizing | 0.235 | N | 0.791 | deleterious | None | None | None | None | N |
| A/K | 0.9362 | likely_pathogenic | 0.9307 | pathogenic | -1.135 | Destabilizing | 0.081 | N | 0.759 | deleterious | None | None | None | None | N |
| A/L | 0.273 | likely_benign | 0.2599 | benign | 0.576 | Stabilizing | 0.081 | N | 0.753 | deleterious | None | None | None | None | N |
| A/M | 0.3197 | likely_benign | 0.2917 | benign | 0.269 | Stabilizing | 0.824 | D | 0.762 | deleterious | None | None | None | None | N |
| A/N | 0.7141 | likely_pathogenic | 0.7015 | pathogenic | -1.616 | Destabilizing | 0.235 | N | 0.776 | deleterious | None | None | None | None | N |
| A/P | 0.924 | likely_pathogenic | 0.8997 | pathogenic | 0.122 | Stabilizing | 0.484 | N | 0.793 | deleterious | N | 0.479509408 | None | None | N |
| A/Q | 0.787 | likely_pathogenic | 0.7921 | pathogenic | -1.282 | Destabilizing | 0.38 | N | 0.803 | deleterious | None | None | None | None | N |
| A/R | 0.89 | likely_pathogenic | 0.8913 | pathogenic | -1.432 | Destabilizing | 0.38 | N | 0.791 | deleterious | None | None | None | None | N |
| A/S | 0.1433 | likely_benign | 0.1385 | benign | -1.983 | Destabilizing | 0.001 | N | 0.428 | neutral | N | 0.353716037 | None | None | N |
| A/T | 0.0784 | likely_benign | 0.0749 | benign | -1.574 | Destabilizing | None | N | 0.406 | neutral | N | 0.390407556 | None | None | N |
| A/V | 0.1547 | likely_benign | 0.1431 | benign | 0.122 | Stabilizing | 0.062 | N | 0.727 | prob.delet. | N | 0.440777662 | None | None | N |
| A/W | 0.9364 | likely_pathogenic | 0.9333 | pathogenic | -1.461 | Destabilizing | 0.935 | D | 0.792 | deleterious | None | None | None | None | N |
| A/Y | 0.8381 | likely_pathogenic | 0.8344 | pathogenic | -0.801 | Destabilizing | 0.555 | D | 0.785 | 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.