Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 10019 | 30280;30281;30282 | chr2:178704315;178704314;178704313 | chr2:179569042;179569041;179569040 |
| N2AB | 9702 | 29329;29330;29331 | chr2:178704315;178704314;178704313 | chr2:179569042;179569041;179569040 |
| N2A | 8775 | 26548;26549;26550 | chr2:178704315;178704314;178704313 | chr2:179569042;179569041;179569040 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | rs754368714  |
-0.496 | 0.01 | None | 0.235 | 0.101 | None | gnomAD-2.1.1 | 1.78E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 3.11E-05 | 1.40056E-04 |
| S/A | rs754368714 |
-0.496 | 0.01 | None | 0.235 | 0.101 | None | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 4.77555E-04 |
| S/A | rs754368714 |
-0.496 | 0.01 | None | 0.235 | 0.101 | None | gnomAD-4.0.0 | 2.10681E-05 | None | None | None | None | N | None | 1.33504E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 2.62738E-05 | 0 | 3.20164E-05 |
| S/C | None | None | 0.993 | None | 0.688 | 0.412 | 0.412458657427 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 0 |
| S/P | rs754368714 |
-0.293 | 0.006 | None | 0.391 | 0.298 | 0.218112801441 | gnomAD-2.1.1 | 4.01E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| S/P | rs754368714 |
-0.293 | 0.006 | None | 0.391 | 0.298 | 0.218112801441 | gnomAD-4.0.0 | 6.84135E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.15931E-05 | 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 | 0.1602 | likely_benign | 0.1741 | benign | -0.646 | Destabilizing | 0.01 | N | 0.235 | neutral | None | None | None | None | N |
| S/C | 0.2979 | likely_benign | 0.3491 | ambiguous | -0.265 | Destabilizing | 0.993 | D | 0.688 | prob.neutral | None | None | None | None | N |
| S/D | 0.9759 | likely_pathogenic | 0.9789 | pathogenic | -0.986 | Destabilizing | 0.828 | D | 0.58 | neutral | None | None | None | None | N |
| S/E | 0.9769 | likely_pathogenic | 0.9779 | pathogenic | -0.834 | Destabilizing | 0.704 | D | 0.575 | neutral | None | None | None | None | N |
| S/F | 0.9519 | likely_pathogenic | 0.9607 | pathogenic | -0.452 | Destabilizing | 0.927 | D | 0.789 | deleterious | None | None | None | None | N |
| S/G | 0.3579 | ambiguous | 0.4188 | ambiguous | -1.017 | Destabilizing | 0.495 | N | 0.553 | neutral | None | None | None | None | N |
| S/H | 0.9581 | likely_pathogenic | 0.9629 | pathogenic | -1.313 | Destabilizing | 0.995 | D | 0.688 | prob.neutral | None | None | None | None | N |
| S/I | 0.7678 | likely_pathogenic | 0.7725 | pathogenic | 0.287 | Stabilizing | 0.543 | D | 0.721 | prob.delet. | None | None | None | None | N |
| S/K | 0.995 | likely_pathogenic | 0.9953 | pathogenic | -0.47 | Destabilizing | 0.704 | D | 0.581 | neutral | None | None | None | None | N |
| S/L | 0.5957 | likely_pathogenic | 0.6649 | pathogenic | 0.287 | Stabilizing | 0.329 | N | 0.657 | neutral | None | None | None | None | N |
| S/M | 0.6963 | likely_pathogenic | 0.7339 | pathogenic | 0.309 | Stabilizing | 0.944 | D | 0.689 | prob.neutral | None | None | None | None | N |
| S/N | 0.8276 | likely_pathogenic | 0.8527 | pathogenic | -0.913 | Destabilizing | 0.828 | D | 0.583 | neutral | None | None | None | None | N |
| S/P | 0.8102 | likely_pathogenic | 0.8446 | pathogenic | 0.01 | Stabilizing | 0.006 | N | 0.391 | neutral | None | None | None | None | N |
| S/Q | 0.9743 | likely_pathogenic | 0.9767 | pathogenic | -0.712 | Destabilizing | 0.944 | D | 0.625 | neutral | None | None | None | None | N |
| S/R | 0.9915 | likely_pathogenic | 0.9918 | pathogenic | -0.712 | Destabilizing | 0.944 | D | 0.711 | prob.delet. | None | None | None | None | N |
| S/T | 0.1741 | likely_benign | 0.234 | benign | -0.689 | Destabilizing | 0.023 | N | 0.293 | neutral | None | None | None | None | N |
| S/V | 0.5851 | likely_pathogenic | 0.6151 | pathogenic | 0.01 | Stabilizing | 0.031 | N | 0.488 | neutral | None | None | None | None | N |
| S/W | 0.9553 | likely_pathogenic | 0.9588 | pathogenic | -0.732 | Destabilizing | 0.995 | D | 0.793 | deleterious | None | None | None | None | N |
| S/Y | 0.9095 | likely_pathogenic | 0.9185 | pathogenic | -0.322 | Destabilizing | 0.975 | D | 0.791 | deleterious | 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.