Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 14364 | 43315;43316;43317 | chr2:178633041;178633040;178633039 | chr2:179497768;179497767;179497766 |
| N2AB | 12723 | 38392;38393;38394 | chr2:178633041;178633040;178633039 | chr2:179497768;179497767;179497766 |
| N2A | 11796 | 35611;35612;35613 | chr2:178633041;178633040;178633039 | chr2:179497768;179497767;179497766 |
| N2B | 5299 | 16120;16121;16122 | chr2:178633041;178633040;178633039 | chr2:179497768;179497767;179497766 |
| Novex-1 | 5424 | 16495;16496;16497 | chr2:178633041;178633040;178633039 | chr2:179497768;179497767;179497766 |
| Novex-2 | 5491 | 16696;16697;16698 | chr2:178633041;178633040;178633039 | chr2:179497768;179497767;179497766 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/G | rs1454558974  |
-2.241 | 0.971 | N | 0.76 | 0.261 | 0.679282971961 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | N | None | 1.14732E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| C/G | rs1454558974 |
-2.241 | 0.971 | N | 0.76 | 0.261 | 0.679282971961 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| C/G | rs1454558974 |
-2.241 | 0.971 | N | 0.76 | 0.261 | 0.679282971961 | gnomAD-4.0.0 | 6.57367E-06 | None | None | None | None | N | None | 2.41231E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| C/R | None | None | 0.991 | N | 0.771 | 0.296 | 0.686119149826 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 0 |
| C/Y | rs1462387608 |
-1.46 | 0.991 | N | 0.672 | 0.337 | 0.523961927912 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 2.91E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| C/Y | rs1462387608 |
-1.46 | 0.991 | N | 0.672 | 0.337 | 0.523961927912 | gnomAD-4.0.0 | 1.59364E-06 | None | None | None | None | N | None | 0 | 2.28843E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/A | 0.636 | likely_pathogenic | 0.559 | ambiguous | -1.869 | Destabilizing | 0.56 | D | 0.44 | neutral | None | None | None | None | N |
| C/D | 0.9562 | likely_pathogenic | 0.9304 | pathogenic | -1.394 | Destabilizing | 0.994 | D | 0.785 | deleterious | None | None | None | None | N |
| C/E | 0.9538 | likely_pathogenic | 0.9295 | pathogenic | -1.23 | Destabilizing | 0.994 | D | 0.781 | deleterious | None | None | None | None | N |
| C/F | 0.4771 | ambiguous | 0.3118 | benign | -1.249 | Destabilizing | 0.974 | D | 0.717 | prob.delet. | N | 0.430195095 | None | None | N |
| C/G | 0.5255 | ambiguous | 0.4356 | ambiguous | -2.212 | Highly Destabilizing | 0.971 | D | 0.76 | deleterious | N | 0.475905978 | None | None | N |
| C/H | 0.8252 | likely_pathogenic | 0.7147 | pathogenic | -2.455 | Highly Destabilizing | 0.998 | D | 0.715 | prob.delet. | None | None | None | None | N |
| C/I | 0.5339 | ambiguous | 0.4458 | ambiguous | -0.964 | Destabilizing | 0.038 | N | 0.349 | neutral | None | None | None | None | N |
| C/K | 0.9415 | likely_pathogenic | 0.9025 | pathogenic | -1.453 | Destabilizing | 0.994 | D | 0.789 | deleterious | None | None | None | None | N |
| C/L | 0.6744 | likely_pathogenic | 0.5979 | pathogenic | -0.964 | Destabilizing | 0.389 | N | 0.443 | neutral | None | None | None | None | N |
| C/M | 0.7642 | likely_pathogenic | 0.6976 | pathogenic | 0.149 | Stabilizing | 0.981 | D | 0.677 | prob.neutral | None | None | None | None | N |
| C/N | 0.861 | likely_pathogenic | 0.7863 | pathogenic | -1.71 | Destabilizing | 0.994 | D | 0.769 | deleterious | None | None | None | None | N |
| C/P | 0.9948 | likely_pathogenic | 0.9939 | pathogenic | -1.241 | Destabilizing | 0.994 | D | 0.766 | deleterious | None | None | None | None | N |
| C/Q | 0.8785 | likely_pathogenic | 0.8163 | pathogenic | -1.469 | Destabilizing | 0.994 | D | 0.749 | deleterious | None | None | None | None | N |
| C/R | 0.7186 | likely_pathogenic | 0.6213 | pathogenic | -1.539 | Destabilizing | 0.991 | D | 0.771 | deleterious | N | 0.513634415 | None | None | N |
| C/S | 0.5554 | ambiguous | 0.4649 | ambiguous | -2.114 | Highly Destabilizing | 0.915 | D | 0.615 | neutral | N | 0.409132779 | None | None | N |
| C/T | 0.527 | ambiguous | 0.4575 | ambiguous | -1.769 | Destabilizing | 0.876 | D | 0.616 | neutral | None | None | None | None | N |
| C/V | 0.4318 | ambiguous | 0.3681 | ambiguous | -1.241 | Destabilizing | 0.013 | N | 0.307 | neutral | None | None | None | None | N |
| C/W | 0.7814 | likely_pathogenic | 0.6674 | pathogenic | -1.475 | Destabilizing | 0.998 | D | 0.649 | prob.neutral | N | 0.410661638 | None | None | N |
| C/Y | 0.5909 | likely_pathogenic | 0.4188 | ambiguous | -1.373 | Destabilizing | 0.991 | D | 0.672 | prob.neutral | N | 0.426249631 | 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.