Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33418 | 100477;100478;100479 | chr2:178536495;178536494;178536493 | chr2:179401222;179401221;179401220 |
| N2AB | 31777 | 95554;95555;95556 | chr2:178536495;178536494;178536493 | chr2:179401222;179401221;179401220 |
| N2A | 30850 | 92773;92774;92775 | chr2:178536495;178536494;178536493 | chr2:179401222;179401221;179401220 |
| N2B | 24353 | 73282;73283;73284 | chr2:178536495;178536494;178536493 | chr2:179401222;179401221;179401220 |
| Novex-1 | 24478 | 73657;73658;73659 | chr2:178536495;178536494;178536493 | chr2:179401222;179401221;179401220 |
| Novex-2 | 24545 | 73858;73859;73860 | chr2:178536495;178536494;178536493 | chr2:179401222;179401221;179401220 |
| 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 | rs1167149103  |
None | 0.999 | N | 0.45 | 0.319 | 0.313518423057 | gnomAD-4.0.0 | 1.72325E-06 | None | None | None | None | I | None | 0 | 2.59094E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| S/T | None | None | 0.999 | N | 0.447 | 0.184 | 0.280987212366 | gnomAD-4.0.0 | 7.06109E-07 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.178E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.1109 | likely_benign | 0.1018 | benign | -0.327 | Destabilizing | 0.998 | D | 0.414 | neutral | None | None | None | None | I |
| S/C | 0.189 | likely_benign | 0.1655 | benign | -0.242 | Destabilizing | 1.0 | D | 0.676 | prob.neutral | N | 0.485861734 | None | None | I |
| S/D | 0.3538 | ambiguous | 0.3726 | ambiguous | 0.072 | Stabilizing | 0.999 | D | 0.595 | neutral | None | None | None | None | I |
| S/E | 0.56 | ambiguous | 0.5994 | pathogenic | -0.037 | Destabilizing | 0.999 | D | 0.584 | neutral | None | None | None | None | I |
| S/F | 0.2619 | likely_benign | 0.2335 | benign | -1.038 | Destabilizing | 1.0 | D | 0.742 | deleterious | None | None | None | None | I |
| S/G | 0.1383 | likely_benign | 0.1106 | benign | -0.395 | Destabilizing | 0.999 | D | 0.45 | neutral | N | 0.462388655 | None | None | I |
| S/H | 0.4278 | ambiguous | 0.4267 | ambiguous | -0.909 | Destabilizing | 1.0 | D | 0.705 | prob.neutral | None | None | None | None | I |
| S/I | 0.2074 | likely_benign | 0.2094 | benign | -0.279 | Destabilizing | 1.0 | D | 0.731 | prob.delet. | N | 0.466743521 | None | None | I |
| S/K | 0.7118 | likely_pathogenic | 0.753 | pathogenic | -0.39 | Destabilizing | 0.999 | D | 0.587 | neutral | None | None | None | None | I |
| S/L | 0.1584 | likely_benign | 0.1375 | benign | -0.279 | Destabilizing | 1.0 | D | 0.626 | neutral | None | None | None | None | I |
| S/M | 0.2847 | likely_benign | 0.242 | benign | 0.005 | Stabilizing | 1.0 | D | 0.701 | prob.neutral | None | None | None | None | I |
| S/N | 0.1376 | likely_benign | 0.1143 | benign | -0.115 | Destabilizing | 0.999 | D | 0.576 | neutral | N | 0.471050214 | None | None | I |
| S/P | 0.8335 | likely_pathogenic | 0.8369 | pathogenic | -0.269 | Destabilizing | 1.0 | D | 0.712 | prob.delet. | None | None | None | None | I |
| S/Q | 0.5898 | likely_pathogenic | 0.5929 | pathogenic | -0.39 | Destabilizing | 1.0 | D | 0.723 | prob.delet. | None | None | None | None | I |
| S/R | 0.6531 | likely_pathogenic | 0.6831 | pathogenic | -0.179 | Destabilizing | 1.0 | D | 0.709 | prob.delet. | N | 0.497255381 | None | None | I |
| S/T | 0.0932 | likely_benign | 0.083 | benign | -0.228 | Destabilizing | 0.999 | D | 0.447 | neutral | N | 0.498775533 | None | None | I |
| S/V | 0.2134 | likely_benign | 0.203 | benign | -0.269 | Destabilizing | 1.0 | D | 0.721 | prob.delet. | None | None | None | None | I |
| S/W | 0.5128 | ambiguous | 0.5198 | ambiguous | -1.063 | Destabilizing | 1.0 | D | 0.719 | prob.delet. | None | None | None | None | I |
| S/Y | 0.2591 | likely_benign | 0.2634 | benign | -0.768 | Destabilizing | 1.0 | D | 0.735 | prob.delet. | 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.