Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2356 | 7291;7292;7293 | chr2:178774102;178774101;178774100 | chr2:179638829;179638828;179638827 |
| N2AB | 2356 | 7291;7292;7293 | chr2:178774102;178774101;178774100 | chr2:179638829;179638828;179638827 |
| N2A | 2356 | 7291;7292;7293 | chr2:178774102;178774101;178774100 | chr2:179638829;179638828;179638827 |
| N2B | 2310 | 7153;7154;7155 | chr2:178774102;178774101;178774100 | chr2:179638829;179638828;179638827 |
| Novex-1 | 2310 | 7153;7154;7155 | chr2:178774102;178774101;178774100 | chr2:179638829;179638828;179638827 |
| Novex-2 | 2310 | 7153;7154;7155 | chr2:178774102;178774101;178774100 | chr2:179638829;179638828;179638827 |
| Novex-3 | 2356 | 7291;7292;7293 | chr2:178774102;178774101;178774100 | chr2:179638829;179638828;179638827 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/F | None | None | 0.549 | D | 0.267 | 0.51 | 0.659558603232 | gnomAD-4.0.0 | 1.59064E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85665E-06 | 0 | 0 |
| I/L | rs1561261813  |
-0.252 | 0.016 | N | 0.192 | 0.343 | 0.5073929853 | gnomAD-2.1.1 | 4E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.83E-06 | 0 |
| I/M | None | None | 0.045 | D | 0.169 | 0.243 | 0.52127940124 | gnomAD-4.0.0 | 6.84097E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.15934E-05 | 0 |
| I/S | rs2091912353 |
None | 0.549 | D | 0.313 | 0.617 | 0.821640738486 | gnomAD-4.0.0 | 4.77204E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 4.82625E-04 | 0 | 0 | 3.02133E-05 |
| I/T | None | None | 0.549 | D | 0.291 | 0.509 | 0.755904203069 | gnomAD-4.0.0 | 1.59068E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85669E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/A | 0.2161 | likely_benign | 0.2204 | benign | -1.175 | Destabilizing | 0.25 | N | 0.281 | neutral | None | None | None | None | N |
| I/C | 0.7715 | likely_pathogenic | 0.7832 | pathogenic | -1.21 | Destabilizing | 0.92 | D | 0.251 | neutral | None | None | None | None | N |
| I/D | 0.8573 | likely_pathogenic | 0.8649 | pathogenic | -0.577 | Destabilizing | 0.972 | D | 0.347 | neutral | None | None | None | None | N |
| I/E | 0.714 | likely_pathogenic | 0.7247 | pathogenic | -0.551 | Destabilizing | 0.766 | D | 0.349 | neutral | None | None | None | None | N |
| I/F | 0.2527 | likely_benign | 0.2395 | benign | -0.805 | Destabilizing | 0.549 | D | 0.267 | neutral | D | 0.548044234 | None | None | N |
| I/G | 0.741 | likely_pathogenic | 0.7488 | pathogenic | -1.405 | Destabilizing | 0.766 | D | 0.329 | neutral | None | None | None | None | N |
| I/H | 0.736 | likely_pathogenic | 0.7339 | pathogenic | -0.31 | Destabilizing | 0.992 | D | 0.279 | neutral | None | None | None | None | N |
| I/K | 0.5649 | likely_pathogenic | 0.5701 | pathogenic | -0.751 | Destabilizing | 0.617 | D | 0.326 | neutral | None | None | None | None | N |
| I/L | 0.127 | likely_benign | 0.1289 | benign | -0.611 | Destabilizing | 0.016 | N | 0.192 | neutral | N | 0.507026836 | None | None | N |
| I/M | 0.1025 | likely_benign | 0.1008 | benign | -0.999 | Destabilizing | 0.045 | N | 0.169 | neutral | D | 0.530211932 | None | None | N |
| I/N | 0.5202 | ambiguous | 0.5332 | ambiguous | -0.877 | Destabilizing | 0.963 | D | 0.325 | neutral | D | 0.54800321 | None | None | N |
| I/P | 0.5969 | likely_pathogenic | 0.6409 | pathogenic | -0.775 | Destabilizing | 0.972 | D | 0.355 | neutral | None | None | None | None | N |
| I/Q | 0.64 | likely_pathogenic | 0.6426 | pathogenic | -0.912 | Destabilizing | 0.92 | D | 0.327 | neutral | None | None | None | None | N |
| I/R | 0.5093 | ambiguous | 0.5095 | ambiguous | -0.32 | Destabilizing | 0.92 | D | 0.331 | neutral | None | None | None | None | N |
| I/S | 0.3794 | ambiguous | 0.3916 | ambiguous | -1.394 | Destabilizing | 0.549 | D | 0.313 | neutral | D | 0.54788117 | None | None | N |
| I/T | 0.1603 | likely_benign | 0.1572 | benign | -1.242 | Destabilizing | 0.549 | D | 0.291 | neutral | D | 0.548508011 | None | None | N |
| I/V | 0.0531 | likely_benign | 0.0525 | benign | -0.775 | Destabilizing | 0.001 | N | 0.145 | neutral | N | 0.395696538 | None | None | N |
| I/W | 0.8976 | likely_pathogenic | 0.8896 | pathogenic | -0.777 | Destabilizing | 0.992 | D | 0.31 | neutral | None | None | None | None | N |
| I/Y | 0.6738 | likely_pathogenic | 0.678 | pathogenic | -0.598 | Destabilizing | 0.92 | D | 0.3 | 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.