Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 29752 | 89479;89480;89481 | chr2:178553751;178553750;178553749 | chr2:179418478;179418477;179418476 |
| N2AB | 28111 | 84556;84557;84558 | chr2:178553751;178553750;178553749 | chr2:179418478;179418477;179418476 |
| N2A | 27184 | 81775;81776;81777 | chr2:178553751;178553750;178553749 | chr2:179418478;179418477;179418476 |
| N2B | 20687 | 62284;62285;62286 | chr2:178553751;178553750;178553749 | chr2:179418478;179418477;179418476 |
| Novex-1 | 20812 | 62659;62660;62661 | chr2:178553751;178553750;178553749 | chr2:179418478;179418477;179418476 |
| Novex-2 | 20879 | 62860;62861;62862 | chr2:178553751;178553750;178553749 | chr2:179418478;179418477;179418476 |
| 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 | rs1181316587  |
-1.138 | 0.999 | N | 0.54 | 0.42 | 0.325533332567 | gnomAD-2.1.1 | 4.07E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.34E-05 | None | 0 | 0 | 0 |
| T/A | rs1181316587 |
-1.138 | 0.999 | N | 0.54 | 0.42 | 0.325533332567 | gnomAD-4.0.0 | 1.59962E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.44179E-05 | 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 | 0.2144 | likely_benign | 0.1909 | benign | -1.14 | Destabilizing | 0.999 | D | 0.54 | neutral | N | 0.46887725 | None | None | N |
| T/C | 0.646 | likely_pathogenic | 0.6296 | pathogenic | -0.949 | Destabilizing | 1.0 | D | 0.719 | prob.delet. | None | None | None | None | N |
| T/D | 0.8364 | likely_pathogenic | 0.807 | pathogenic | -0.885 | Destabilizing | 1.0 | D | 0.708 | prob.delet. | None | None | None | None | N |
| T/E | 0.7678 | likely_pathogenic | 0.7391 | pathogenic | -0.802 | Destabilizing | 1.0 | D | 0.707 | prob.neutral | None | None | None | None | N |
| T/F | 0.5357 | ambiguous | 0.5159 | ambiguous | -1.026 | Destabilizing | 1.0 | D | 0.781 | deleterious | None | None | None | None | N |
| T/G | 0.6056 | likely_pathogenic | 0.5768 | pathogenic | -1.459 | Destabilizing | 1.0 | D | 0.679 | prob.neutral | None | None | None | None | N |
| T/H | 0.4845 | ambiguous | 0.4592 | ambiguous | -1.624 | Destabilizing | 1.0 | D | 0.785 | deleterious | None | None | None | None | N |
| T/I | 0.4385 | ambiguous | 0.4311 | ambiguous | -0.351 | Destabilizing | 1.0 | D | 0.706 | prob.neutral | N | 0.472422423 | None | None | N |
| T/K | 0.5536 | ambiguous | 0.5249 | ambiguous | -0.751 | Destabilizing | 1.0 | D | 0.709 | prob.delet. | None | None | None | None | N |
| T/L | 0.2741 | likely_benign | 0.27 | benign | -0.351 | Destabilizing | 0.999 | D | 0.617 | neutral | None | None | None | None | N |
| T/M | 0.1903 | likely_benign | 0.182 | benign | -0.196 | Destabilizing | 1.0 | D | 0.715 | prob.delet. | None | None | None | None | N |
| T/N | 0.3525 | ambiguous | 0.3409 | ambiguous | -0.989 | Destabilizing | 1.0 | D | 0.671 | neutral | D | 0.522580687 | None | None | N |
| T/P | 0.877 | likely_pathogenic | 0.8354 | pathogenic | -0.583 | Destabilizing | 1.0 | D | 0.717 | prob.delet. | N | 0.506188624 | None | None | N |
| T/Q | 0.5295 | ambiguous | 0.4909 | ambiguous | -1.082 | Destabilizing | 1.0 | D | 0.75 | deleterious | None | None | None | None | N |
| T/R | 0.4956 | ambiguous | 0.4568 | ambiguous | -0.622 | Destabilizing | 1.0 | D | 0.726 | prob.delet. | None | None | None | None | N |
| T/S | 0.1805 | likely_benign | 0.1645 | benign | -1.292 | Destabilizing | 0.999 | D | 0.521 | neutral | N | 0.505128289 | None | None | N |
| T/V | 0.3101 | likely_benign | 0.3176 | benign | -0.583 | Destabilizing | 0.999 | D | 0.552 | neutral | None | None | None | None | N |
| T/W | 0.8751 | likely_pathogenic | 0.8575 | pathogenic | -0.961 | Destabilizing | 1.0 | D | 0.771 | deleterious | None | None | None | None | N |
| T/Y | 0.5664 | likely_pathogenic | 0.547 | ambiguous | -0.686 | Destabilizing | 1.0 | D | 0.774 | 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.