Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2423 | 7492;7493;7494 | chr2:178773901;178773900;178773899 | chr2:179638628;179638627;179638626 |
| N2AB | 2423 | 7492;7493;7494 | chr2:178773901;178773900;178773899 | chr2:179638628;179638627;179638626 |
| N2A | 2423 | 7492;7493;7494 | chr2:178773901;178773900;178773899 | chr2:179638628;179638627;179638626 |
| N2B | 2377 | 7354;7355;7356 | chr2:178773901;178773900;178773899 | chr2:179638628;179638627;179638626 |
| Novex-1 | 2377 | 7354;7355;7356 | chr2:178773901;178773900;178773899 | chr2:179638628;179638627;179638626 |
| Novex-2 | 2377 | 7354;7355;7356 | chr2:178773901;178773900;178773899 | chr2:179638628;179638627;179638626 |
| Novex-3 | 2423 | 7492;7493;7494 | chr2:178773901;178773900;178773899 | chr2:179638628;179638627;179638626 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | None | None | 0.767 | D | 0.587 | 0.649 | 0.437527004654 | gnomAD-4.0.0 | 1.5906E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85665E-06 | 0 | 0 |
| G/R | None | None | 0.999 | D | 0.788 | 0.901 | 0.867188776878 | gnomAD-4.0.0 | 2.40064E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.625E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.4902 | ambiguous | 0.4413 | ambiguous | -0.313 | Destabilizing | 0.767 | D | 0.587 | neutral | D | 0.540768516 | None | None | N |
| G/C | 0.9068 | likely_pathogenic | 0.87 | pathogenic | -0.75 | Destabilizing | 1.0 | D | 0.754 | deleterious | None | None | None | None | N |
| G/D | 0.957 | likely_pathogenic | 0.9414 | pathogenic | -0.518 | Destabilizing | 1.0 | D | 0.825 | deleterious | None | None | None | None | N |
| G/E | 0.9793 | likely_pathogenic | 0.9708 | pathogenic | -0.67 | Destabilizing | 0.999 | D | 0.785 | deleterious | D | 0.737891975 | None | None | N |
| G/F | 0.9949 | likely_pathogenic | 0.9935 | pathogenic | -1.008 | Destabilizing | 1.0 | D | 0.798 | deleterious | None | None | None | None | N |
| G/H | 0.9917 | likely_pathogenic | 0.9887 | pathogenic | -0.614 | Destabilizing | 1.0 | D | 0.766 | deleterious | None | None | None | None | N |
| G/I | 0.9931 | likely_pathogenic | 0.9898 | pathogenic | -0.38 | Destabilizing | 1.0 | D | 0.771 | deleterious | None | None | None | None | N |
| G/K | 0.991 | likely_pathogenic | 0.9876 | pathogenic | -0.812 | Destabilizing | 1.0 | D | 0.787 | deleterious | None | None | None | None | N |
| G/L | 0.9865 | likely_pathogenic | 0.9826 | pathogenic | -0.38 | Destabilizing | 0.999 | D | 0.763 | deleterious | None | None | None | None | N |
| G/M | 0.991 | likely_pathogenic | 0.9876 | pathogenic | -0.408 | Destabilizing | 1.0 | D | 0.758 | deleterious | None | None | None | None | N |
| G/N | 0.9714 | likely_pathogenic | 0.9604 | pathogenic | -0.397 | Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| G/P | 0.9985 | likely_pathogenic | 0.9985 | pathogenic | -0.323 | Destabilizing | 1.0 | D | 0.778 | deleterious | None | None | None | None | N |
| G/Q | 0.9771 | likely_pathogenic | 0.9689 | pathogenic | -0.667 | Destabilizing | 1.0 | D | 0.782 | deleterious | None | None | None | None | N |
| G/R | 0.972 | likely_pathogenic | 0.9624 | pathogenic | -0.383 | Destabilizing | 0.999 | D | 0.788 | deleterious | D | 0.700019143 | None | None | N |
| G/S | 0.6125 | likely_pathogenic | 0.5236 | ambiguous | -0.559 | Destabilizing | 0.994 | D | 0.814 | deleterious | None | None | None | None | N |
| G/T | 0.9502 | likely_pathogenic | 0.9238 | pathogenic | -0.637 | Destabilizing | 0.999 | D | 0.761 | deleterious | None | None | None | None | N |
| G/V | 0.9768 | likely_pathogenic | 0.9663 | pathogenic | -0.323 | Destabilizing | 0.999 | D | 0.743 | deleterious | D | 0.736992886 | None | None | N |
| G/W | 0.9922 | likely_pathogenic | 0.9897 | pathogenic | -1.193 | Destabilizing | 1.0 | D | 0.753 | deleterious | None | None | None | None | N |
| G/Y | 0.994 | likely_pathogenic | 0.9919 | pathogenic | -0.827 | Destabilizing | 1.0 | D | 0.796 | 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.