Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33186 | 99781;99782;99783 | chr2:178537651;178537650;178537649 | chr2:179402378;179402377;179402376 |
| N2AB | 31545 | 94858;94859;94860 | chr2:178537651;178537650;178537649 | chr2:179402378;179402377;179402376 |
| N2A | 30618 | 92077;92078;92079 | chr2:178537651;178537650;178537649 | chr2:179402378;179402377;179402376 |
| N2B | 24121 | 72586;72587;72588 | chr2:178537651;178537650;178537649 | chr2:179402378;179402377;179402376 |
| Novex-1 | 24246 | 72961;72962;72963 | chr2:178537651;178537650;178537649 | chr2:179402378;179402377;179402376 |
| Novex-2 | 24313 | 73162;73163;73164 | chr2:178537651;178537650;178537649 | chr2:179402378;179402377;179402376 |
| 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 | rs1198186808  |
-1.622 | 0.008 | N | 0.124 | 0.173 | 0.213573922156 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 6.48E-05 | 0 |
| S/G | rs1198186808 |
-1.622 | 0.008 | N | 0.124 | 0.173 | 0.213573922156 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| S/G | rs1198186808 |
-1.622 | 0.008 | N | 0.124 | 0.173 | 0.213573922156 | gnomAD-4.0.0 | 6.57108E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.47024E-05 | 0 | 0 |
| S/N | None | None | 0.536 | N | 0.573 | 0.165 | 0.241078983079 | gnomAD-4.0.0 | 1.59137E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85832E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.0793 | likely_benign | 0.0868 | benign | -0.818 | Destabilizing | 0.014 | N | 0.109 | neutral | None | None | None | None | N |
| S/C | 0.0929 | likely_benign | 0.1091 | benign | -0.703 | Destabilizing | 1.0 | D | 0.719 | prob.delet. | N | 0.374001749 | None | None | N |
| S/D | 0.9295 | likely_pathogenic | 0.9358 | pathogenic | -0.901 | Destabilizing | 0.964 | D | 0.591 | neutral | None | None | None | None | N |
| S/E | 0.9642 | likely_pathogenic | 0.9609 | pathogenic | -0.86 | Destabilizing | 0.974 | D | 0.6 | neutral | None | None | None | None | N |
| S/F | 0.8685 | likely_pathogenic | 0.895 | pathogenic | -1.004 | Destabilizing | 1.0 | D | 0.737 | prob.delet. | None | None | None | None | N |
| S/G | 0.0589 | likely_benign | 0.0781 | benign | -1.096 | Destabilizing | 0.008 | N | 0.124 | neutral | N | 0.437109078 | None | None | N |
| S/H | 0.9 | likely_pathogenic | 0.8975 | pathogenic | -1.604 | Destabilizing | 1.0 | D | 0.722 | prob.delet. | None | None | None | None | N |
| S/I | 0.7247 | likely_pathogenic | 0.7585 | pathogenic | -0.173 | Destabilizing | 1.0 | D | 0.761 | deleterious | N | 0.431180396 | None | None | N |
| S/K | 0.9863 | likely_pathogenic | 0.9846 | pathogenic | -0.704 | Destabilizing | 1.0 | D | 0.611 | neutral | None | None | None | None | N |
| S/L | 0.5526 | ambiguous | 0.6172 | pathogenic | -0.173 | Destabilizing | 0.998 | D | 0.69 | prob.neutral | None | None | None | None | N |
| S/M | 0.68 | likely_pathogenic | 0.7066 | pathogenic | 0.129 | Stabilizing | 1.0 | D | 0.722 | prob.delet. | None | None | None | None | N |
| S/N | 0.618 | likely_pathogenic | 0.6308 | pathogenic | -0.904 | Destabilizing | 0.536 | D | 0.573 | neutral | N | 0.497445461 | None | None | N |
| S/P | 0.9802 | likely_pathogenic | 0.9876 | pathogenic | -0.354 | Destabilizing | 0.964 | D | 0.74 | deleterious | None | None | None | None | N |
| S/Q | 0.9245 | likely_pathogenic | 0.9209 | pathogenic | -1.031 | Destabilizing | 0.999 | D | 0.7 | prob.neutral | None | None | None | None | N |
| S/R | 0.9616 | likely_pathogenic | 0.9638 | pathogenic | -0.663 | Destabilizing | 1.0 | D | 0.763 | deleterious | N | 0.508219815 | None | None | N |
| S/T | 0.2068 | likely_benign | 0.2251 | benign | -0.808 | Destabilizing | 0.072 | N | 0.533 | neutral | N | 0.418021885 | None | None | N |
| S/V | 0.5775 | likely_pathogenic | 0.6131 | pathogenic | -0.354 | Destabilizing | 0.995 | D | 0.691 | prob.neutral | None | None | None | None | N |
| S/W | 0.9378 | likely_pathogenic | 0.952 | pathogenic | -1.024 | Destabilizing | 1.0 | D | 0.727 | prob.delet. | None | None | None | None | N |
| S/Y | 0.8438 | likely_pathogenic | 0.8611 | pathogenic | -0.708 | Destabilizing | 1.0 | D | 0.746 | 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.