Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 25007 | 75244;75245;75246 | chr2:178571113;178571112;178571111 | chr2:179435840;179435839;179435838 |
| N2AB | 23366 | 70321;70322;70323 | chr2:178571113;178571112;178571111 | chr2:179435840;179435839;179435838 |
| N2A | 22439 | 67540;67541;67542 | chr2:178571113;178571112;178571111 | chr2:179435840;179435839;179435838 |
| N2B | 15942 | 48049;48050;48051 | chr2:178571113;178571112;178571111 | chr2:179435840;179435839;179435838 |
| Novex-1 | 16067 | 48424;48425;48426 | chr2:178571113;178571112;178571111 | chr2:179435840;179435839;179435838 |
| Novex-2 | 16134 | 48625;48626;48627 | chr2:178571113;178571112;178571111 | chr2:179435840;179435839;179435838 |
| 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/S | None | None | 0.999 | N | 0.768 | 0.54 | 0.359963025489 | gnomAD-4.0.0 | 6.84347E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99593E-07 | 0 | 0 |
| C/Y | rs1419626284  |
-1.482 | 0.999 | N | 0.819 | 0.438 | 0.381746406553 | gnomAD-2.1.1 | 8.06E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.78E-05 | 0 |
| C/Y | rs1419626284 |
-1.482 | 0.999 | N | 0.819 | 0.438 | 0.381746406553 | gnomAD-4.0.0 | 2.05304E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.69878E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/A | 0.6981 | likely_pathogenic | 0.6909 | pathogenic | -1.029 | Destabilizing | 0.995 | D | 0.49 | neutral | None | None | None | None | N |
| C/D | 0.9944 | likely_pathogenic | 0.9927 | pathogenic | -1.547 | Destabilizing | 0.999 | D | 0.8 | deleterious | None | None | None | None | N |
| C/E | 0.9963 | likely_pathogenic | 0.9952 | pathogenic | -1.426 | Destabilizing | 0.999 | D | 0.785 | deleterious | None | None | None | None | N |
| C/F | 0.8215 | likely_pathogenic | 0.802 | pathogenic | -0.864 | Destabilizing | 0.999 | D | 0.825 | deleterious | N | 0.480063981 | None | None | N |
| C/G | 0.7077 | likely_pathogenic | 0.6729 | pathogenic | -1.295 | Destabilizing | 0.999 | D | 0.811 | deleterious | N | 0.47238711 | None | None | N |
| C/H | 0.9877 | likely_pathogenic | 0.9836 | pathogenic | -1.846 | Destabilizing | 1.0 | D | 0.773 | deleterious | None | None | None | None | N |
| C/I | 0.5513 | ambiguous | 0.5313 | ambiguous | -0.368 | Destabilizing | 0.999 | D | 0.795 | deleterious | None | None | None | None | N |
| C/K | 0.9968 | likely_pathogenic | 0.9957 | pathogenic | -0.857 | Destabilizing | 0.999 | D | 0.8 | deleterious | None | None | None | None | N |
| C/L | 0.7305 | likely_pathogenic | 0.7184 | pathogenic | -0.368 | Destabilizing | 0.998 | D | 0.637 | neutral | None | None | None | None | N |
| C/M | 0.854 | likely_pathogenic | 0.8572 | pathogenic | 0.362 | Stabilizing | 1.0 | D | 0.728 | deleterious | None | None | None | None | N |
| C/N | 0.9643 | likely_pathogenic | 0.9558 | pathogenic | -1.134 | Destabilizing | 0.999 | D | 0.781 | deleterious | None | None | None | None | N |
| C/P | 0.9011 | likely_pathogenic | 0.8821 | pathogenic | -0.562 | Destabilizing | 0.999 | D | 0.785 | deleterious | None | None | None | None | N |
| C/Q | 0.9877 | likely_pathogenic | 0.9843 | pathogenic | -1.028 | Destabilizing | 1.0 | D | 0.765 | deleterious | None | None | None | None | N |
| C/R | 0.9744 | likely_pathogenic | 0.9668 | pathogenic | -1.006 | Destabilizing | 0.999 | D | 0.784 | deleterious | N | 0.47238711 | None | None | N |
| C/S | 0.7358 | likely_pathogenic | 0.7146 | pathogenic | -1.31 | Destabilizing | 0.999 | D | 0.768 | deleterious | N | 0.47213362 | None | None | N |
| C/T | 0.7416 | likely_pathogenic | 0.7279 | pathogenic | -1.044 | Destabilizing | 0.999 | D | 0.771 | deleterious | None | None | None | None | N |
| C/V | 0.4066 | ambiguous | 0.3993 | ambiguous | -0.562 | Destabilizing | 0.998 | D | 0.739 | deleterious | None | None | None | None | N |
| C/W | 0.9741 | likely_pathogenic | 0.9691 | pathogenic | -1.247 | Destabilizing | 1.0 | D | 0.749 | deleterious | N | 0.454536344 | None | None | N |
| C/Y | 0.9478 | likely_pathogenic | 0.9319 | pathogenic | -0.944 | Destabilizing | 0.999 | D | 0.819 | deleterious | N | 0.449927988 | 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.