Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 17 | 274;275;276 | chr2:178804594;178804593;178804592 | chr2:179669321;179669320;179669319 |
| N2AB | 17 | 274;275;276 | chr2:178804594;178804593;178804592 | chr2:179669321;179669320;179669319 |
| N2A | 17 | 274;275;276 | chr2:178804594;178804593;178804592 | chr2:179669321;179669320;179669319 |
| N2B | 17 | 274;275;276 | chr2:178804594;178804593;178804592 | chr2:179669321;179669320;179669319 |
| Novex-1 | 17 | 274;275;276 | chr2:178804594;178804593;178804592 | chr2:179669321;179669320;179669319 |
| Novex-2 | 17 | 274;275;276 | chr2:178804594;178804593;178804592 | chr2:179669321;179669320;179669319 |
| Novex-3 | 17 | 274;275;276 | chr2:178804594;178804593;178804592 | chr2:179669321;179669320;179669319 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | None | None | None | D | 0.101 | 0.248 | 0.569949186141 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | -0.448(TCAP) | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 0 |
| V/I | None | None | 0.042 | D | 0.42 | 0.408 | 0.639750416835 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | -0.787(TCAP) | N | None | 0 | 0 | None | 0 | 2.75482E-04 | None | 0 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.2775 | likely_benign | 0.2606 | benign | -1.569 | Destabilizing | None | N | 0.101 | neutral | D | 0.541218425 | None | -0.448(TCAP) | N |
| V/C | 0.9524 | likely_pathogenic | 0.9467 | pathogenic | -1.107 | Destabilizing | 0.865 | D | 0.593 | neutral | None | None | None | -0.888(TCAP) | N |
| V/D | 0.8794 | likely_pathogenic | 0.8504 | pathogenic | -1.356 | Destabilizing | 0.94 | D | 0.636 | neutral | None | None | None | -0.657(TCAP) | N |
| V/E | 0.7149 | likely_pathogenic | 0.6824 | pathogenic | -1.273 | Destabilizing | 0.213 | N | 0.535 | neutral | D | 0.665340059 | None | -0.8(TCAP) | N |
| V/F | 0.4691 | ambiguous | 0.4357 | ambiguous | -0.971 | Destabilizing | 0.922 | D | 0.623 | neutral | None | None | None | -0.713(TCAP) | N |
| V/G | 0.4925 | ambiguous | 0.4532 | ambiguous | -1.972 | Destabilizing | 0.319 | N | 0.509 | neutral | D | 0.685810883 | None | -0.347(TCAP) | N |
| V/H | 0.9272 | likely_pathogenic | 0.9181 | pathogenic | -1.526 | Destabilizing | 0.99 | D | 0.593 | neutral | None | None | None | -0.008(TCAP) | N |
| V/I | 0.1235 | likely_benign | 0.1239 | benign | -0.525 | Destabilizing | 0.042 | N | 0.42 | neutral | D | 0.600348658 | None | -0.787(TCAP) | N |
| V/K | 0.7977 | likely_pathogenic | 0.7752 | pathogenic | -1.289 | Destabilizing | 0.439 | N | 0.534 | neutral | None | None | None | -0.946(TCAP) | N |
| V/L | 0.3512 | ambiguous | 0.3439 | ambiguous | -0.525 | Destabilizing | 0.021 | N | 0.319 | neutral | D | 0.559711855 | None | -0.787(TCAP) | N |
| V/M | 0.3162 | likely_benign | 0.3051 | benign | -0.498 | Destabilizing | 0.895 | D | 0.53 | neutral | None | None | None | -0.804(TCAP) | N |
| V/N | 0.7739 | likely_pathogenic | 0.745 | pathogenic | -1.242 | Destabilizing | 0.452 | N | 0.635 | neutral | None | None | None | -0.685(TCAP) | N |
| V/P | 0.9619 | likely_pathogenic | 0.9538 | pathogenic | -0.839 | Destabilizing | 0.191 | N | 0.596 | neutral | None | None | None | -0.669(TCAP) | N |
| V/Q | 0.7093 | likely_pathogenic | 0.6941 | pathogenic | -1.279 | Destabilizing | 0.798 | D | 0.612 | neutral | None | None | None | -0.758(TCAP) | N |
| V/R | 0.7535 | likely_pathogenic | 0.7351 | pathogenic | -0.926 | Destabilizing | 0.854 | D | 0.644 | neutral | None | None | None | -0.754(TCAP) | N |
| V/S | 0.4568 | ambiguous | 0.4317 | ambiguous | -1.864 | Destabilizing | 0.157 | N | 0.482 | neutral | None | None | None | -0.402(TCAP) | N |
| V/T | 0.3311 | likely_benign | 0.3214 | benign | -1.658 | Destabilizing | 0.13 | N | 0.415 | neutral | None | None | None | -0.558(TCAP) | N |
| V/W | 0.9842 | likely_pathogenic | 0.9799 | pathogenic | -1.27 | Destabilizing | 0.997 | D | 0.592 | neutral | None | None | None | -0.985(TCAP) | N |
| V/Y | 0.9169 | likely_pathogenic | 0.9049 | pathogenic | -0.928 | Destabilizing | 0.973 | D | 0.628 | neutral | None | None | None | -0.748(TCAP) | 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.