Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 1583 | 4972;4973;4974 | chr2:178777216;178777215;178777214 | chr2:179641943;179641942;179641941 |
| N2AB | 1583 | 4972;4973;4974 | chr2:178777216;178777215;178777214 | chr2:179641943;179641942;179641941 |
| N2A | 1583 | 4972;4973;4974 | chr2:178777216;178777215;178777214 | chr2:179641943;179641942;179641941 |
| N2B | 1537 | 4834;4835;4836 | chr2:178777216;178777215;178777214 | chr2:179641943;179641942;179641941 |
| Novex-1 | 1537 | 4834;4835;4836 | chr2:178777216;178777215;178777214 | chr2:179641943;179641942;179641941 |
| Novex-2 | 1537 | 4834;4835;4836 | chr2:178777216;178777215;178777214 | chr2:179641943;179641942;179641941 |
| Novex-3 | 1583 | 4972;4973;4974 | chr2:178777216;178777215;178777214 | chr2:179641943;179641942;179641941 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/H | rs2092326705  |
None | 1.0 | D | 0.784 | 0.739 | 0.71266998192 | gnomAD-4.0.0 | 1.59063E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85673E-06 | 0 | 0 |
| P/S | rs1023231093 |
None | 1.0 | D | 0.755 | 0.741 | 0.640766565566 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| P/S | rs1023231093 |
None | 1.0 | D | 0.755 | 0.741 | 0.640766565566 | gnomAD-4.0.0 | 2.02997E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.40987E-06 | 0 | 0 |
| P/T | None | -0.346 | 1.0 | D | 0.751 | 0.762 | 0.683407299014 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | I | None | 1.14784E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| P/T | None | -0.346 | 1.0 | D | 0.751 | 0.762 | 0.683407299014 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | I | None | 4.83E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| P/T | None | -0.346 | 1.0 | D | 0.751 | 0.762 | 0.683407299014 | gnomAD-4.0.0 | 3.04495E-06 | None | None | None | None | I | None | 3.49724E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 1.20493E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.9253 | likely_pathogenic | 0.8279 | pathogenic | -0.619 | Destabilizing | 1.0 | D | 0.732 | prob.delet. | D | 0.746346811 | None | None | I |
| P/C | 0.9954 | likely_pathogenic | 0.9878 | pathogenic | -0.43 | Destabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | I |
| P/D | 0.9914 | likely_pathogenic | 0.979 | pathogenic | -0.68 | Destabilizing | 1.0 | D | 0.751 | deleterious | None | None | None | None | I |
| P/E | 0.9801 | likely_pathogenic | 0.9496 | pathogenic | -0.814 | Destabilizing | 1.0 | D | 0.754 | deleterious | None | None | None | None | I |
| P/F | 0.9978 | likely_pathogenic | 0.9936 | pathogenic | -0.977 | Destabilizing | 1.0 | D | 0.8 | deleterious | None | None | None | None | I |
| P/G | 0.9829 | likely_pathogenic | 0.9616 | pathogenic | -0.749 | Destabilizing | 1.0 | D | 0.754 | deleterious | None | None | None | None | I |
| P/H | 0.9831 | likely_pathogenic | 0.9607 | pathogenic | -0.445 | Destabilizing | 1.0 | D | 0.784 | deleterious | D | 0.762577278 | None | None | I |
| P/I | 0.9714 | likely_pathogenic | 0.9336 | pathogenic | -0.426 | Destabilizing | 1.0 | D | 0.8 | deleterious | None | None | None | None | I |
| P/K | 0.9878 | likely_pathogenic | 0.9719 | pathogenic | -0.541 | Destabilizing | 1.0 | D | 0.751 | deleterious | None | None | None | None | I |
| P/L | 0.9466 | likely_pathogenic | 0.8753 | pathogenic | -0.426 | Destabilizing | 1.0 | D | 0.761 | deleterious | D | 0.740699024 | None | None | I |
| P/M | 0.9857 | likely_pathogenic | 0.9644 | pathogenic | -0.234 | Destabilizing | 1.0 | D | 0.783 | deleterious | None | None | None | None | I |
| P/N | 0.9879 | likely_pathogenic | 0.9728 | pathogenic | -0.151 | Destabilizing | 1.0 | D | 0.777 | deleterious | None | None | None | None | I |
| P/Q | 0.9698 | likely_pathogenic | 0.9267 | pathogenic | -0.469 | Destabilizing | 1.0 | D | 0.775 | deleterious | None | None | None | None | I |
| P/R | 0.9695 | likely_pathogenic | 0.9308 | pathogenic | 0.043 | Stabilizing | 1.0 | D | 0.782 | deleterious | D | 0.709410506 | None | None | I |
| P/S | 0.9739 | likely_pathogenic | 0.9361 | pathogenic | -0.444 | Destabilizing | 1.0 | D | 0.755 | deleterious | D | 0.708071613 | None | None | I |
| P/T | 0.9297 | likely_pathogenic | 0.8463 | pathogenic | -0.49 | Destabilizing | 1.0 | D | 0.751 | deleterious | D | 0.746828342 | None | None | I |
| P/V | 0.9456 | likely_pathogenic | 0.8857 | pathogenic | -0.456 | Destabilizing | 1.0 | D | 0.763 | deleterious | None | None | None | None | I |
| P/W | 0.9987 | likely_pathogenic | 0.9961 | pathogenic | -1.06 | Destabilizing | 1.0 | D | 0.798 | deleterious | None | None | None | None | I |
| P/Y | 0.9962 | likely_pathogenic | 0.9888 | pathogenic | -0.758 | Destabilizing | 1.0 | D | 0.81 | deleterious | None | None | None | None | I |
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.