Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2985 | 9178;9179;9180 | chr2:178768883;178768882;178768881 | chr2:179633610;179633609;179633608 |
| N2AB | 2985 | 9178;9179;9180 | chr2:178768883;178768882;178768881 | chr2:179633610;179633609;179633608 |
| N2A | 2985 | 9178;9179;9180 | chr2:178768883;178768882;178768881 | chr2:179633610;179633609;179633608 |
| N2B | 2939 | 9040;9041;9042 | chr2:178768883;178768882;178768881 | chr2:179633610;179633609;179633608 |
| Novex-1 | 2939 | 9040;9041;9042 | chr2:178768883;178768882;178768881 | chr2:179633610;179633609;179633608 |
| Novex-2 | 2939 | 9040;9041;9042 | chr2:178768883;178768882;178768881 | chr2:179633610;179633609;179633608 |
| Novex-3 | 2985 | 9178;9179;9180 | chr2:178768883;178768882;178768881 | chr2:179633610;179633609;179633608 |
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/S | rs727503684  |
-0.615 | 0.999 | N | 0.553 | 0.252 | 0.112648838833 | gnomAD-2.1.1 | 3.98E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.81E-06 | 0 |
| T/S | rs727503684 |
-0.615 | 0.999 | N | 0.553 | 0.252 | 0.112648838833 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 6.55E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| T/S | rs727503684 |
-0.615 | 0.999 | N | 0.553 | 0.252 | 0.112648838833 | gnomAD-4.0.0 | 2.03003E-06 | None | None | None | None | N | None | 0 | 6.15536E-05 | None | 0 | 0 | None | 0 | 0 | 1.20493E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.2668 | likely_benign | 0.285 | benign | -0.64 | Destabilizing | 0.999 | D | 0.553 | neutral | N | 0.456707541 | None | None | N |
| T/C | 0.8415 | likely_pathogenic | 0.8835 | pathogenic | -0.355 | Destabilizing | 1.0 | D | 0.733 | prob.delet. | None | None | None | None | N |
| T/D | 0.8214 | likely_pathogenic | 0.8191 | pathogenic | -0.013 | Destabilizing | 1.0 | D | 0.816 | deleterious | None | None | None | None | N |
| T/E | 0.8014 | likely_pathogenic | 0.8023 | pathogenic | -0.046 | Destabilizing | 1.0 | D | 0.814 | deleterious | None | None | None | None | N |
| T/F | 0.7657 | likely_pathogenic | 0.8203 | pathogenic | -0.883 | Destabilizing | 1.0 | D | 0.834 | deleterious | None | None | None | None | N |
| T/G | 0.7028 | likely_pathogenic | 0.7292 | pathogenic | -0.853 | Destabilizing | 1.0 | D | 0.756 | deleterious | None | None | None | None | N |
| T/H | 0.6992 | likely_pathogenic | 0.7463 | pathogenic | -1.158 | Destabilizing | 1.0 | D | 0.786 | deleterious | None | None | None | None | N |
| T/I | 0.6309 | likely_pathogenic | 0.6839 | pathogenic | -0.178 | Destabilizing | 1.0 | D | 0.82 | deleterious | N | 0.494870662 | None | None | N |
| T/K | 0.7547 | likely_pathogenic | 0.7844 | pathogenic | -0.576 | Destabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | N |
| T/L | 0.4032 | ambiguous | 0.4429 | ambiguous | -0.178 | Destabilizing | 0.999 | D | 0.73 | prob.delet. | None | None | None | None | N |
| T/M | 0.2003 | likely_benign | 0.232 | benign | 0.109 | Stabilizing | 1.0 | D | 0.743 | deleterious | None | None | None | None | N |
| T/N | 0.3522 | ambiguous | 0.3836 | ambiguous | -0.439 | Destabilizing | 1.0 | D | 0.733 | prob.delet. | N | 0.453436171 | None | None | N |
| T/P | 0.596 | likely_pathogenic | 0.5967 | pathogenic | -0.3 | Destabilizing | 1.0 | D | 0.817 | deleterious | N | 0.438738975 | None | None | N |
| T/Q | 0.6897 | likely_pathogenic | 0.7299 | pathogenic | -0.642 | Destabilizing | 1.0 | D | 0.81 | deleterious | None | None | None | None | N |
| T/R | 0.666 | likely_pathogenic | 0.6963 | pathogenic | -0.312 | Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | N |
| T/S | 0.2604 | likely_benign | 0.2966 | benign | -0.701 | Destabilizing | 0.999 | D | 0.553 | neutral | N | 0.446181377 | None | None | N |
| T/V | 0.4435 | ambiguous | 0.4945 | ambiguous | -0.3 | Destabilizing | 0.999 | D | 0.659 | neutral | None | None | None | None | N |
| T/W | 0.943 | likely_pathogenic | 0.956 | pathogenic | -0.829 | Destabilizing | 1.0 | D | 0.782 | deleterious | None | None | None | None | N |
| T/Y | 0.8016 | likely_pathogenic | 0.8372 | pathogenic | -0.583 | Destabilizing | 1.0 | D | 0.824 | 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.