Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 34219 | 102880;102881;102882 | chr2:178533960;178533959;178533958 | chr2:179398687;179398686;179398685 |
| N2AB | 32578 | 97957;97958;97959 | chr2:178533960;178533959;178533958 | chr2:179398687;179398686;179398685 |
| N2A | 31651 | 95176;95177;95178 | chr2:178533960;178533959;178533958 | chr2:179398687;179398686;179398685 |
| N2B | 25154 | 75685;75686;75687 | chr2:178533960;178533959;178533958 | chr2:179398687;179398686;179398685 |
| Novex-1 | 25279 | 76060;76061;76062 | chr2:178533960;178533959;178533958 | chr2:179398687;179398686;179398685 |
| Novex-2 | 25346 | 76261;76262;76263 | chr2:178533960;178533959;178533958 | chr2:179398687;179398686;179398685 |
| 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/G | None | None | 0.999 | N | 0.496 | 0.39 | 0.436239592564 | gnomAD-4.0.0 | 2.40064E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.625E-06 | 0 | 0 |
| S/R | rs370077023  |
-0.48 | 1.0 | N | 0.845 | 0.459 | 0.391000631824 | gnomAD-2.1.1 | 1.46235E-04 | None | None | None | None | N | None | 1.61237E-03 | 5.66E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| S/R | rs370077023 |
-0.48 | 1.0 | N | 0.845 | 0.459 | 0.391000631824 | gnomAD-3.1.2 | 4.73155E-04 | None | None | None | None | N | None | 1.71349E-03 | 6.54E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| S/R | rs370077023 |
-0.48 | 1.0 | N | 0.845 | 0.459 | 0.391000631824 | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 8E-04 | 0 | None | None | 0 | 0 | None | None | None | 0 | None |
| S/R | rs370077023 |
-0.48 | 1.0 | N | 0.845 | 0.459 | 0.391000631824 | gnomAD-4.0.0 | 9.17039E-05 | None | None | None | None | N | None | 1.83917E-03 | 9.99767E-05 | None | 0 | 0 | None | 0 | 0 | 8.47562E-07 | 0 | 4.80123E-05 |
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 | 0.2025 | likely_benign | 0.2019 | benign | -0.947 | Destabilizing | 0.998 | D | 0.441 | neutral | None | None | None | None | N |
| S/C | 0.318 | likely_benign | 0.3257 | benign | -0.66 | Destabilizing | 1.0 | D | 0.829 | deleterious | N | 0.512701489 | None | None | N |
| S/D | 0.8753 | likely_pathogenic | 0.8649 | pathogenic | -0.735 | Destabilizing | 0.999 | D | 0.588 | neutral | None | None | None | None | N |
| S/E | 0.9014 | likely_pathogenic | 0.8861 | pathogenic | -0.738 | Destabilizing | 0.999 | D | 0.554 | neutral | None | None | None | None | N |
| S/F | 0.6122 | likely_pathogenic | 0.5712 | pathogenic | -1.188 | Destabilizing | 1.0 | D | 0.907 | deleterious | None | None | None | None | N |
| S/G | 0.3599 | ambiguous | 0.3512 | ambiguous | -1.185 | Destabilizing | 0.999 | D | 0.496 | neutral | N | 0.500584715 | None | None | N |
| S/H | 0.7638 | likely_pathogenic | 0.729 | pathogenic | -1.642 | Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | N |
| S/I | 0.5279 | ambiguous | 0.4779 | ambiguous | -0.414 | Destabilizing | 1.0 | D | 0.877 | deleterious | N | 0.485696464 | None | None | N |
| S/K | 0.9791 | likely_pathogenic | 0.9736 | pathogenic | -0.913 | Destabilizing | 0.999 | D | 0.569 | neutral | None | None | None | None | N |
| S/L | 0.4259 | ambiguous | 0.3956 | ambiguous | -0.414 | Destabilizing | 1.0 | D | 0.753 | deleterious | None | None | None | None | N |
| S/M | 0.5653 | likely_pathogenic | 0.5226 | ambiguous | 0.042 | Stabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | N |
| S/N | 0.4582 | ambiguous | 0.4331 | ambiguous | -0.933 | Destabilizing | 0.999 | D | 0.553 | neutral | N | 0.5057583 | None | None | N |
| S/P | 0.9824 | likely_pathogenic | 0.98 | pathogenic | -0.559 | Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | N |
| S/Q | 0.89 | likely_pathogenic | 0.8676 | pathogenic | -1.135 | Destabilizing | 1.0 | D | 0.765 | deleterious | None | None | None | None | N |
| S/R | 0.9504 | likely_pathogenic | 0.9402 | pathogenic | -0.716 | Destabilizing | 1.0 | D | 0.845 | deleterious | N | 0.505584941 | None | None | N |
| S/T | 0.2026 | likely_benign | 0.1899 | benign | -0.924 | Destabilizing | 0.999 | D | 0.466 | neutral | N | 0.494210367 | None | None | N |
| S/V | 0.5227 | ambiguous | 0.4764 | ambiguous | -0.559 | Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | N |
| S/W | 0.7765 | likely_pathogenic | 0.7415 | pathogenic | -1.14 | Destabilizing | 1.0 | D | 0.88 | deleterious | None | None | None | None | N |
| S/Y | 0.5247 | ambiguous | 0.4826 | ambiguous | -0.896 | Destabilizing | 1.0 | D | 0.908 | 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.