Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 19253 | 57982;57983;57984 | chr2:178595597;178595596;178595595 | chr2:179460324;179460323;179460322 |
| N2AB | 17612 | 53059;53060;53061 | chr2:178595597;178595596;178595595 | chr2:179460324;179460323;179460322 |
| N2A | 16685 | 50278;50279;50280 | chr2:178595597;178595596;178595595 | chr2:179460324;179460323;179460322 |
| N2B | 10188 | 30787;30788;30789 | chr2:178595597;178595596;178595595 | chr2:179460324;179460323;179460322 |
| Novex-1 | 10313 | 31162;31163;31164 | chr2:178595597;178595596;178595595 | chr2:179460324;179460323;179460322 |
| Novex-2 | 10380 | 31363;31364;31365 | chr2:178595597;178595596;178595595 | chr2:179460324;179460323;179460322 |
| 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/D | rs1310871071  |
-1.149 | 0.124 | N | 0.65 | 0.245 | 0.354183961838 | gnomAD-2.1.1 | 4.8E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.11E-05 | 0 |
| A/T | None | None | 0.124 | N | 0.506 | 0.088 | 0.1749357433 | gnomAD-4.0.0 | 3.3199E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.95781E-06 | 0 | 0 |
| A/V | rs1310871071 |
None | 0.22 | N | 0.563 | 0.229 | 0.267299060538 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| A/V | rs1310871071 |
None | 0.22 | N | 0.563 | 0.229 | 0.267299060538 | gnomAD-4.0.0 | 6.57964E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.47132E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.3965 | ambiguous | 0.4241 | ambiguous | -0.835 | Destabilizing | 0.909 | D | 0.607 | neutral | None | None | None | None | N |
| A/D | 0.2577 | likely_benign | 0.3541 | ambiguous | -1.083 | Destabilizing | 0.124 | N | 0.65 | neutral | N | 0.437113786 | None | None | N |
| A/E | 0.1799 | likely_benign | 0.2442 | benign | -1.07 | Destabilizing | 0.157 | N | 0.608 | neutral | None | None | None | None | N |
| A/F | 0.3944 | ambiguous | 0.4528 | ambiguous | -0.859 | Destabilizing | 0.726 | D | 0.719 | prob.delet. | None | None | None | None | N |
| A/G | 0.1102 | likely_benign | 0.1216 | benign | -1.253 | Destabilizing | None | N | 0.27 | neutral | N | 0.445253267 | None | None | N |
| A/H | 0.4471 | ambiguous | 0.4939 | ambiguous | -1.387 | Destabilizing | 0.909 | D | 0.704 | prob.neutral | None | None | None | None | N |
| A/I | 0.2818 | likely_benign | 0.304 | benign | -0.211 | Destabilizing | 0.567 | D | 0.671 | neutral | None | None | None | None | N |
| A/K | 0.3797 | ambiguous | 0.4743 | ambiguous | -1.135 | Destabilizing | 0.157 | N | 0.614 | neutral | None | None | None | None | N |
| A/L | 0.2157 | likely_benign | 0.226 | benign | -0.211 | Destabilizing | 0.272 | N | 0.605 | neutral | None | None | None | None | N |
| A/M | 0.2502 | likely_benign | 0.2567 | benign | -0.176 | Destabilizing | 0.968 | D | 0.654 | neutral | None | None | None | None | N |
| A/N | 0.2099 | likely_benign | 0.2241 | benign | -0.888 | Destabilizing | 0.396 | N | 0.659 | neutral | None | None | None | None | N |
| A/P | 0.1748 | likely_benign | 0.1789 | benign | -0.41 | Destabilizing | 0.497 | N | 0.653 | neutral | N | 0.456219622 | None | None | N |
| A/Q | 0.2932 | likely_benign | 0.3281 | benign | -0.979 | Destabilizing | 0.567 | D | 0.668 | neutral | None | None | None | None | N |
| A/R | 0.3689 | ambiguous | 0.4735 | ambiguous | -0.873 | Destabilizing | 0.567 | D | 0.664 | neutral | None | None | None | None | N |
| A/S | 0.0846 | likely_benign | 0.0857 | benign | -1.327 | Destabilizing | None | N | 0.265 | neutral | N | 0.364925614 | None | None | N |
| A/T | 0.0882 | likely_benign | 0.0903 | benign | -1.209 | Destabilizing | 0.124 | N | 0.506 | neutral | N | 0.410369902 | None | None | N |
| A/V | 0.1546 | likely_benign | 0.1694 | benign | -0.41 | Destabilizing | 0.22 | N | 0.563 | neutral | N | 0.435190988 | None | None | N |
| A/W | 0.7428 | likely_pathogenic | 0.8166 | pathogenic | -1.268 | Destabilizing | 0.968 | D | 0.744 | deleterious | None | None | None | None | N |
| A/Y | 0.4349 | ambiguous | 0.5105 | ambiguous | -0.838 | Destabilizing | 0.726 | D | 0.715 | 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.