Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 152 | 679;680;681 | chr2:178800524;178800523;178800522 | chr2:179665251;179665250;179665249 |
| N2AB | 152 | 679;680;681 | chr2:178800524;178800523;178800522 | chr2:179665251;179665250;179665249 |
| N2A | 152 | 679;680;681 | chr2:178800524;178800523;178800522 | chr2:179665251;179665250;179665249 |
| N2B | 152 | 679;680;681 | chr2:178800524;178800523;178800522 | chr2:179665251;179665250;179665249 |
| Novex-1 | 152 | 679;680;681 | chr2:178800524;178800523;178800522 | chr2:179665251;179665250;179665249 |
| Novex-2 | 152 | 679;680;681 | chr2:178800524;178800523;178800522 | chr2:179665251;179665250;179665249 |
| Novex-3 | 152 | 679;680;681 | chr2:178800524;178800523;178800522 | chr2:179665251;179665250;179665249 |
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/T | rs1178553128  |
-1.671 | 0.061 | D | 0.371 | 0.571 | 0.648329002653 | gnomAD-2.1.1 | 3.98E-06 | None | None | None | -0.23(TCAP) | N | None | 0 | 2.89E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| I/T | rs1178553128 |
-1.671 | 0.061 | D | 0.371 | 0.571 | 0.648329002653 | gnomAD-4.0.0 | 2.73623E-06 | None | None | None | -0.23(TCAP) | N | None | 0 | 6.70781E-05 | None | 0 | 0 | None | 0 | 0 | 8.99294E-07 | 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 | 0.9595 | likely_pathogenic | 0.9665 | pathogenic | -1.588 | Destabilizing | 0.814 | D | 0.543 | neutral | None | None | None | -0.502(TCAP) | N |
| I/C | 0.9924 | likely_pathogenic | 0.9906 | pathogenic | -1.176 | Destabilizing | 0.999 | D | 0.605 | neutral | None | None | None | -0.241(TCAP) | N |
| I/D | 0.9932 | likely_pathogenic | 0.9946 | pathogenic | -0.324 | Destabilizing | 0.993 | D | 0.717 | prob.delet. | None | None | None | 0.008(TCAP) | N |
| I/E | 0.9746 | likely_pathogenic | 0.981 | pathogenic | -0.291 | Destabilizing | 0.991 | D | 0.711 | prob.delet. | None | None | None | -0.095(TCAP) | N |
| I/F | 0.5905 | likely_pathogenic | 0.6184 | pathogenic | -1.085 | Destabilizing | 0.957 | D | 0.483 | neutral | D | 0.573670562 | None | -0.285(TCAP) | N |
| I/G | 0.994 | likely_pathogenic | 0.9949 | pathogenic | -1.933 | Destabilizing | 0.987 | D | 0.696 | prob.neutral | None | None | None | -0.438(TCAP) | N |
| I/H | 0.9782 | likely_pathogenic | 0.9801 | pathogenic | -1.105 | Destabilizing | 0.999 | D | 0.737 | prob.delet. | None | None | None | 0.404(TCAP) | N |
| I/K | 0.9492 | likely_pathogenic | 0.956 | pathogenic | -0.894 | Destabilizing | 0.687 | D | 0.713 | prob.delet. | None | None | None | -0.407(TCAP) | N |
| I/L | 0.4026 | ambiguous | 0.4297 | ambiguous | -0.71 | Destabilizing | 0.001 | N | 0.159 | neutral | N | 0.505846909 | None | -0.712(TCAP) | N |
| I/M | 0.3583 | ambiguous | 0.3728 | ambiguous | -0.68 | Destabilizing | 0.87 | D | 0.502 | neutral | D | 0.533657306 | None | -0.508(TCAP) | N |
| I/N | 0.9333 | likely_pathogenic | 0.9422 | pathogenic | -0.739 | Destabilizing | 0.983 | D | 0.727 | prob.delet. | D | 0.666016803 | None | -0.399(TCAP) | N |
| I/P | 0.9902 | likely_pathogenic | 0.9924 | pathogenic | -0.971 | Destabilizing | 0.993 | D | 0.733 | prob.delet. | None | None | None | -0.64(TCAP) | N |
| I/Q | 0.9559 | likely_pathogenic | 0.9647 | pathogenic | -0.82 | Destabilizing | 0.984 | D | 0.739 | prob.delet. | None | None | None | -0.365(TCAP) | N |
| I/R | 0.9413 | likely_pathogenic | 0.9479 | pathogenic | -0.461 | Destabilizing | 0.984 | D | 0.733 | prob.delet. | None | None | None | -0.481(TCAP) | N |
| I/S | 0.9611 | likely_pathogenic | 0.9655 | pathogenic | -1.512 | Destabilizing | 0.889 | D | 0.627 | neutral | D | 0.634120551 | None | -0.124(TCAP) | N |
| I/T | 0.9316 | likely_pathogenic | 0.939 | pathogenic | -1.34 | Destabilizing | 0.061 | N | 0.371 | neutral | D | 0.589945455 | None | -0.23(TCAP) | N |
| I/V | 0.3123 | likely_benign | 0.3167 | benign | -0.971 | Destabilizing | 0.053 | N | 0.395 | neutral | N | 0.503473274 | None | -0.64(TCAP) | N |
| I/W | 0.9841 | likely_pathogenic | 0.9845 | pathogenic | -1.104 | Destabilizing | 1.0 | D | 0.766 | deleterious | None | None | None | -0.309(TCAP) | N |
| I/Y | 0.9207 | likely_pathogenic | 0.9261 | pathogenic | -0.874 | Destabilizing | 0.955 | D | 0.606 | neutral | None | None | None | -0.323(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.