Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 18129 | 54610;54611;54612 | chr2:178604302;178604301;178604300 | chr2:179469029;179469028;179469027 |
| N2AB | 16488 | 49687;49688;49689 | chr2:178604302;178604301;178604300 | chr2:179469029;179469028;179469027 |
| N2A | 15561 | 46906;46907;46908 | chr2:178604302;178604301;178604300 | chr2:179469029;179469028;179469027 |
| N2B | 9064 | 27415;27416;27417 | chr2:178604302;178604301;178604300 | chr2:179469029;179469028;179469027 |
| Novex-1 | 9189 | 27790;27791;27792 | chr2:178604302;178604301;178604300 | chr2:179469029;179469028;179469027 |
| Novex-2 | 9256 | 27991;27992;27993 | chr2:178604302;178604301;178604300 | chr2:179469029;179469028;179469027 |
| 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/C | None | None | 0.999 | N | 0.659 | 0.315 | 0.444807159249 | gnomAD-4.0.0 | 2.18193E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.92742E-05 |
| W/G | rs773082246  |
-1.279 | 0.946 | N | 0.587 | 0.417 | 0.473853734676 | gnomAD-2.1.1 | 6.27E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.23E-05 | 0 |
| W/G | rs773082246 |
-1.279 | 0.946 | N | 0.587 | 0.417 | 0.473853734676 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| W/G | rs773082246 |
-1.279 | 0.946 | N | 0.587 | 0.417 | 0.473853734676 | gnomAD-4.0.0 | 3.27269E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.99772E-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 | 0.8725 | likely_pathogenic | 0.8023 | pathogenic | -1.806 | Destabilizing | 0.919 | D | 0.569 | neutral | None | None | None | None | N |
| W/C | 0.938 | likely_pathogenic | 0.8703 | pathogenic | -0.745 | Destabilizing | 0.999 | D | 0.659 | neutral | N | 0.443559756 | None | None | N |
| W/D | 0.9671 | likely_pathogenic | 0.9429 | pathogenic | 0.194 | Stabilizing | 0.988 | D | 0.651 | neutral | None | None | None | None | N |
| W/E | 0.967 | likely_pathogenic | 0.9355 | pathogenic | 0.275 | Stabilizing | 0.988 | D | 0.631 | neutral | None | None | None | None | N |
| W/F | 0.4566 | ambiguous | 0.4362 | ambiguous | -0.931 | Destabilizing | 0.851 | D | 0.601 | neutral | None | None | None | None | N |
| W/G | 0.7069 | likely_pathogenic | 0.5725 | pathogenic | -1.994 | Destabilizing | 0.946 | D | 0.587 | neutral | N | 0.392496217 | None | None | N |
| W/H | 0.872 | likely_pathogenic | 0.8213 | pathogenic | -0.463 | Destabilizing | 0.993 | D | 0.659 | neutral | None | None | None | None | N |
| W/I | 0.923 | likely_pathogenic | 0.8767 | pathogenic | -1.189 | Destabilizing | 0.976 | D | 0.641 | neutral | None | None | None | None | N |
| W/K | 0.9598 | likely_pathogenic | 0.9302 | pathogenic | -0.838 | Destabilizing | 0.988 | D | 0.638 | neutral | None | None | None | None | N |
| W/L | 0.7608 | likely_pathogenic | 0.6565 | pathogenic | -1.189 | Destabilizing | 0.811 | D | 0.581 | neutral | N | 0.382607297 | None | None | N |
| W/M | 0.9023 | likely_pathogenic | 0.8347 | pathogenic | -0.966 | Destabilizing | 0.999 | D | 0.651 | neutral | None | None | None | None | N |
| W/N | 0.9345 | likely_pathogenic | 0.9014 | pathogenic | -1.228 | Destabilizing | 0.988 | D | 0.651 | neutral | None | None | None | None | N |
| W/P | 0.9417 | likely_pathogenic | 0.9173 | pathogenic | -1.399 | Destabilizing | 0.996 | D | 0.653 | neutral | None | None | None | None | N |
| W/Q | 0.9414 | likely_pathogenic | 0.895 | pathogenic | -1.057 | Destabilizing | 0.996 | D | 0.659 | neutral | None | None | None | None | N |
| W/R | 0.9258 | likely_pathogenic | 0.8735 | pathogenic | -0.587 | Destabilizing | 0.984 | D | 0.651 | neutral | N | 0.392533502 | None | None | N |
| W/S | 0.7667 | likely_pathogenic | 0.6307 | pathogenic | -1.724 | Destabilizing | 0.938 | D | 0.558 | neutral | N | 0.361151803 | None | None | N |
| W/T | 0.8376 | likely_pathogenic | 0.7294 | pathogenic | -1.605 | Destabilizing | 0.132 | N | 0.413 | neutral | None | None | None | None | N |
| W/V | 0.8869 | likely_pathogenic | 0.8154 | pathogenic | -1.399 | Destabilizing | 0.919 | D | 0.573 | neutral | None | None | None | None | N |
| W/Y | 0.5879 | likely_pathogenic | 0.5647 | pathogenic | -0.977 | Destabilizing | 0.034 | N | 0.269 | 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.