Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 19035 | 57328;57329;57330 | chr2:178598514;178598513;178598512 | chr2:179463241;179463240;179463239 |
| N2AB | 17394 | 52405;52406;52407 | chr2:178598514;178598513;178598512 | chr2:179463241;179463240;179463239 |
| N2A | 16467 | 49624;49625;49626 | chr2:178598514;178598513;178598512 | chr2:179463241;179463240;179463239 |
| N2B | 9970 | 30133;30134;30135 | chr2:178598514;178598513;178598512 | chr2:179463241;179463240;179463239 |
| Novex-1 | 10095 | 30508;30509;30510 | chr2:178598514;178598513;178598512 | chr2:179463241;179463240;179463239 |
| Novex-2 | 10162 | 30709;30710;30711 | chr2:178598514;178598513;178598512 | chr2:179463241;179463240;179463239 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/R | None | None | 0.994 | D | 0.674 | 0.33 | 0.540743726455 | 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 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/A | 0.9782 | likely_pathogenic | 0.9831 | pathogenic | -3.094 | Highly Destabilizing | 0.985 | D | 0.577 | neutral | None | None | None | None | N |
| W/C | 0.9953 | likely_pathogenic | 0.9965 | pathogenic | -1.247 | Destabilizing | 1.0 | D | 0.681 | prob.neutral | D | 0.53454264 | None | None | N |
| W/D | 0.9908 | likely_pathogenic | 0.9925 | pathogenic | -1.949 | Destabilizing | 0.971 | D | 0.575 | neutral | None | None | None | None | N |
| W/E | 0.9918 | likely_pathogenic | 0.9941 | pathogenic | -1.883 | Destabilizing | 0.469 | N | 0.397 | neutral | None | None | None | None | N |
| W/F | 0.7528 | likely_pathogenic | 0.7788 | pathogenic | -1.91 | Destabilizing | 0.999 | D | 0.571 | neutral | None | None | None | None | N |
| W/G | 0.9325 | likely_pathogenic | 0.9416 | pathogenic | -3.277 | Highly Destabilizing | 0.99 | D | 0.545 | neutral | N | 0.506777146 | None | None | N |
| W/H | 0.9936 | likely_pathogenic | 0.9953 | pathogenic | -1.566 | Destabilizing | 1.0 | D | 0.647 | neutral | None | None | None | None | N |
| W/I | 0.9743 | likely_pathogenic | 0.982 | pathogenic | -2.417 | Highly Destabilizing | 0.999 | D | 0.675 | prob.neutral | None | None | None | None | N |
| W/K | 0.9984 | likely_pathogenic | 0.9987 | pathogenic | -1.586 | Destabilizing | 0.996 | D | 0.593 | neutral | None | None | None | None | N |
| W/L | 0.9554 | likely_pathogenic | 0.9612 | pathogenic | -2.417 | Highly Destabilizing | 0.99 | D | 0.543 | neutral | N | 0.505763188 | None | None | N |
| W/M | 0.9812 | likely_pathogenic | 0.9867 | pathogenic | -1.796 | Destabilizing | 1.0 | D | 0.567 | neutral | None | None | None | None | N |
| W/N | 0.9938 | likely_pathogenic | 0.995 | pathogenic | -1.898 | Destabilizing | 0.998 | D | 0.673 | neutral | None | None | None | None | N |
| W/P | 0.9885 | likely_pathogenic | 0.9917 | pathogenic | -2.66 | Highly Destabilizing | 0.999 | D | 0.677 | prob.neutral | None | None | None | None | N |
| W/Q | 0.998 | likely_pathogenic | 0.9987 | pathogenic | -1.953 | Destabilizing | 0.996 | D | 0.624 | neutral | None | None | None | None | N |
| W/R | 0.9978 | likely_pathogenic | 0.9982 | pathogenic | -0.934 | Destabilizing | 0.994 | D | 0.674 | neutral | D | 0.522261282 | None | None | N |
| W/S | 0.9774 | likely_pathogenic | 0.9823 | pathogenic | -2.311 | Highly Destabilizing | 0.994 | D | 0.6 | neutral | D | 0.532768213 | None | None | N |
| W/T | 0.9738 | likely_pathogenic | 0.9814 | pathogenic | -2.201 | Highly Destabilizing | 0.998 | D | 0.559 | neutral | None | None | None | None | N |
| W/V | 0.9738 | likely_pathogenic | 0.9811 | pathogenic | -2.66 | Highly Destabilizing | 0.998 | D | 0.657 | neutral | None | None | None | None | N |
| W/Y | 0.8846 | likely_pathogenic | 0.893 | pathogenic | -1.677 | Destabilizing | 0.999 | D | 0.519 | neutral | 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.