Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 29638 | 89137;89138;89139 | chr2:178554199;178554198;178554197 | chr2:179418926;179418925;179418924 |
| N2AB | 27997 | 84214;84215;84216 | chr2:178554199;178554198;178554197 | chr2:179418926;179418925;179418924 |
| N2A | 27070 | 81433;81434;81435 | chr2:178554199;178554198;178554197 | chr2:179418926;179418925;179418924 |
| N2B | 20573 | 61942;61943;61944 | chr2:178554199;178554198;178554197 | chr2:179418926;179418925;179418924 |
| Novex-1 | 20698 | 62317;62318;62319 | chr2:178554199;178554198;178554197 | chr2:179418926;179418925;179418924 |
| Novex-2 | 20765 | 62518;62519;62520 | chr2:178554199;178554198;178554197 | chr2:179418926;179418925;179418924 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/S | rs1328502977  |
-1.022 | None | N | 0.287 | 0.059 | 0.0551355673512 | gnomAD-2.1.1 | 4.28E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 9.42E-06 | 0 |
| G/S | rs1328502977 |
-1.022 | None | N | 0.287 | 0.059 | 0.0551355673512 | gnomAD-4.0.0 | 1.38067E-06 | None | None | None | None | N | None | 0 | 2.35239E-05 | None | 0 | 0 | None | 0 | 0 | 9.03592E-07 | 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 | 0.0964 | likely_benign | 0.1096 | benign | -0.682 | Destabilizing | 0.055 | N | 0.466 | neutral | N | 0.516980079 | None | None | N |
| G/C | 0.1357 | likely_benign | 0.1692 | benign | -0.956 | Destabilizing | 0.883 | D | 0.776 | deleterious | N | 0.503097524 | None | None | N |
| G/D | 0.1925 | likely_benign | 0.2222 | benign | -1.178 | Destabilizing | 0.124 | N | 0.653 | neutral | N | 0.512382336 | None | None | N |
| G/E | 0.215 | likely_benign | 0.2574 | benign | -1.183 | Destabilizing | 0.157 | N | 0.685 | prob.neutral | None | None | None | None | N |
| G/F | 0.52 | ambiguous | 0.5976 | pathogenic | -0.912 | Destabilizing | 0.726 | D | 0.798 | deleterious | None | None | None | None | N |
| G/H | 0.3305 | likely_benign | 0.405 | ambiguous | -1.49 | Destabilizing | 0.909 | D | 0.735 | prob.delet. | None | None | None | None | N |
| G/I | 0.2875 | likely_benign | 0.3749 | ambiguous | -0.121 | Destabilizing | 0.567 | D | 0.771 | deleterious | None | None | None | None | N |
| G/K | 0.4326 | ambiguous | 0.5063 | ambiguous | -1.179 | Destabilizing | 0.157 | N | 0.686 | prob.neutral | None | None | None | None | N |
| G/L | 0.3076 | likely_benign | 0.3696 | ambiguous | -0.121 | Destabilizing | 0.567 | D | 0.733 | prob.delet. | None | None | None | None | N |
| G/M | 0.36 | ambiguous | 0.4283 | ambiguous | -0.21 | Destabilizing | 0.968 | D | 0.783 | deleterious | None | None | None | None | N |
| G/N | 0.2132 | likely_benign | 0.2446 | benign | -0.942 | Destabilizing | 0.157 | N | 0.554 | neutral | None | None | None | None | N |
| G/P | 0.825 | likely_pathogenic | 0.868 | pathogenic | -0.264 | Destabilizing | 0.567 | D | 0.711 | prob.delet. | None | None | None | None | N |
| G/Q | 0.2929 | likely_benign | 0.3538 | ambiguous | -1.029 | Destabilizing | 0.567 | D | 0.719 | prob.delet. | None | None | None | None | N |
| G/R | 0.3344 | likely_benign | 0.4144 | ambiguous | -1.027 | Destabilizing | 0.497 | N | 0.723 | prob.delet. | N | 0.463745008 | None | None | N |
| G/S | 0.0712 | likely_benign | 0.074 | benign | -1.249 | Destabilizing | None | N | 0.287 | neutral | N | 0.47420795 | None | None | N |
| G/T | 0.1123 | likely_benign | 0.132 | benign | -1.158 | Destabilizing | 0.157 | N | 0.638 | neutral | None | None | None | None | N |
| G/V | 0.1992 | likely_benign | 0.257 | benign | -0.264 | Destabilizing | 0.497 | N | 0.729 | prob.delet. | N | 0.473952905 | None | None | N |
| G/W | 0.4911 | ambiguous | 0.5752 | pathogenic | -1.383 | Destabilizing | 0.968 | D | 0.747 | deleterious | None | None | None | None | N |
| G/Y | 0.3639 | ambiguous | 0.4437 | ambiguous | -0.9 | Destabilizing | 0.726 | D | 0.795 | 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.