Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2283 | 7072;7073;7074 | chr2:178774417;178774416;178774415 | chr2:179639144;179639143;179639142 |
| N2AB | 2283 | 7072;7073;7074 | chr2:178774417;178774416;178774415 | chr2:179639144;179639143;179639142 |
| N2A | 2283 | 7072;7073;7074 | chr2:178774417;178774416;178774415 | chr2:179639144;179639143;179639142 |
| N2B | 2237 | 6934;6935;6936 | chr2:178774417;178774416;178774415 | chr2:179639144;179639143;179639142 |
| Novex-1 | 2237 | 6934;6935;6936 | chr2:178774417;178774416;178774415 | chr2:179639144;179639143;179639142 |
| Novex-2 | 2237 | 6934;6935;6936 | chr2:178774417;178774416;178774415 | chr2:179639144;179639143;179639142 |
| Novex-3 | 2283 | 7072;7073;7074 | chr2:178774417;178774416;178774415 | chr2:179639144;179639143;179639142 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | None | None | 0.022 | N | 0.11 | 0.089 | 0.0806252709748 | gnomAD-4.0.0 | 1.20034E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.31252E-06 | 0 | 0 |
| S/T | rs764606170  |
-0.341 | 0.051 | N | 0.233 | 0.081 | 0.0666544352282 | gnomAD-2.1.1 | 3.99E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.82E-06 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.0883 | likely_benign | 0.089 | benign | -0.732 | Destabilizing | 0.022 | N | 0.11 | neutral | N | 0.459277953 | None | None | N |
| S/C | 0.2097 | likely_benign | 0.2086 | benign | -0.482 | Destabilizing | 0.998 | D | 0.422 | neutral | None | None | None | None | N |
| S/D | 0.7487 | likely_pathogenic | 0.7314 | pathogenic | -0.163 | Destabilizing | 0.842 | D | 0.363 | neutral | None | None | None | None | N |
| S/E | 0.7689 | likely_pathogenic | 0.7525 | pathogenic | -0.162 | Destabilizing | 0.842 | D | 0.365 | neutral | None | None | None | None | N |
| S/F | 0.3871 | ambiguous | 0.3871 | ambiguous | -0.869 | Destabilizing | 0.974 | D | 0.504 | neutral | None | None | None | None | N |
| S/G | 0.1504 | likely_benign | 0.1507 | benign | -0.989 | Destabilizing | 0.016 | N | 0.151 | neutral | None | None | None | None | N |
| S/H | 0.6077 | likely_pathogenic | 0.5952 | pathogenic | -1.417 | Destabilizing | 0.998 | D | 0.419 | neutral | None | None | None | None | N |
| S/I | 0.2766 | likely_benign | 0.2796 | benign | -0.155 | Destabilizing | 0.949 | D | 0.501 | neutral | None | None | None | None | N |
| S/K | 0.881 | likely_pathogenic | 0.8719 | pathogenic | -0.671 | Destabilizing | 0.842 | D | 0.367 | neutral | None | None | None | None | N |
| S/L | 0.1443 | likely_benign | 0.1468 | benign | -0.155 | Destabilizing | 0.669 | D | 0.441 | neutral | N | 0.480133623 | None | None | N |
| S/M | 0.2789 | likely_benign | 0.2876 | benign | 0.094 | Stabilizing | 0.998 | D | 0.421 | neutral | None | None | None | None | N |
| S/N | 0.2947 | likely_benign | 0.2838 | benign | -0.624 | Destabilizing | 0.842 | D | 0.394 | neutral | None | None | None | None | N |
| S/P | 0.4013 | ambiguous | 0.3853 | ambiguous | -0.313 | Destabilizing | 0.966 | D | 0.427 | neutral | N | 0.455177625 | None | None | N |
| S/Q | 0.7048 | likely_pathogenic | 0.692 | pathogenic | -0.763 | Destabilizing | 0.974 | D | 0.423 | neutral | None | None | None | None | N |
| S/R | 0.8284 | likely_pathogenic | 0.8161 | pathogenic | -0.566 | Destabilizing | 0.974 | D | 0.435 | neutral | None | None | None | None | N |
| S/T | 0.0885 | likely_benign | 0.0896 | benign | -0.656 | Destabilizing | 0.051 | N | 0.233 | neutral | N | 0.447660591 | None | None | N |
| S/V | 0.2625 | likely_benign | 0.2656 | benign | -0.313 | Destabilizing | 0.728 | D | 0.456 | neutral | None | None | None | None | N |
| S/W | 0.6261 | likely_pathogenic | 0.6282 | pathogenic | -0.836 | Destabilizing | 0.998 | D | 0.607 | neutral | None | None | None | None | N |
| S/Y | 0.4168 | ambiguous | 0.4199 | ambiguous | -0.577 | Destabilizing | 0.991 | D | 0.507 | 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.