Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 25018 | 75277;75278;75279 | chr2:178571080;178571079;178571078 | chr2:179435807;179435806;179435805 |
| N2AB | 23377 | 70354;70355;70356 | chr2:178571080;178571079;178571078 | chr2:179435807;179435806;179435805 |
| N2A | 22450 | 67573;67574;67575 | chr2:178571080;178571079;178571078 | chr2:179435807;179435806;179435805 |
| N2B | 15953 | 48082;48083;48084 | chr2:178571080;178571079;178571078 | chr2:179435807;179435806;179435805 |
| Novex-1 | 16078 | 48457;48458;48459 | chr2:178571080;178571079;178571078 | chr2:179435807;179435806;179435805 |
| Novex-2 | 16145 | 48658;48659;48660 | chr2:178571080;178571079;178571078 | chr2:179435807;179435806;179435805 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | rs745832906  |
-1.342 | 0.999 | N | 0.514 | 0.268 | None | gnomAD-2.1.1 | 1.07E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 2.35E-05 | 0 |
| V/A | rs745832906 |
-1.342 | 0.999 | N | 0.514 | 0.268 | None | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| V/A | rs745832906 |
-1.342 | 0.999 | N | 0.514 | 0.268 | None | gnomAD-4.0.0 | 2.85187E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.90064E-05 | 0 | 0 |
| V/I | None | None | 0.997 | N | 0.475 | 0.231 | 0.462982567029 | 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 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.644 | likely_pathogenic | 0.567 | pathogenic | -1.506 | Destabilizing | 0.999 | D | 0.514 | neutral | N | 0.497146311 | None | None | N |
| V/C | 0.8855 | likely_pathogenic | 0.8708 | pathogenic | -1.562 | Destabilizing | 1.0 | D | 0.742 | deleterious | None | None | None | None | N |
| V/D | 0.9626 | likely_pathogenic | 0.944 | pathogenic | -1.725 | Destabilizing | 1.0 | D | 0.838 | deleterious | N | 0.507113677 | None | None | N |
| V/E | 0.8941 | likely_pathogenic | 0.8552 | pathogenic | -1.716 | Destabilizing | 1.0 | D | 0.808 | deleterious | None | None | None | None | N |
| V/F | 0.4921 | ambiguous | 0.4579 | ambiguous | -1.355 | Destabilizing | 1.0 | D | 0.796 | deleterious | N | 0.485668513 | None | None | N |
| V/G | 0.7775 | likely_pathogenic | 0.7167 | pathogenic | -1.801 | Destabilizing | 1.0 | D | 0.812 | deleterious | N | 0.494302567 | None | None | N |
| V/H | 0.947 | likely_pathogenic | 0.9278 | pathogenic | -1.333 | Destabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | N |
| V/I | 0.0764 | likely_benign | 0.0766 | benign | -0.791 | Destabilizing | 0.997 | D | 0.475 | neutral | N | 0.427110223 | None | None | N |
| V/K | 0.8877 | likely_pathogenic | 0.8476 | pathogenic | -1.163 | Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | N |
| V/L | 0.4858 | ambiguous | 0.4681 | ambiguous | -0.791 | Destabilizing | 0.997 | D | 0.503 | neutral | N | 0.494028648 | None | None | N |
| V/M | 0.3871 | ambiguous | 0.356 | ambiguous | -0.841 | Destabilizing | 1.0 | D | 0.702 | prob.neutral | None | None | None | None | N |
| V/N | 0.8847 | likely_pathogenic | 0.844 | pathogenic | -1.117 | Destabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | N |
| V/P | 0.9503 | likely_pathogenic | 0.9485 | pathogenic | -0.997 | Destabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | N |
| V/Q | 0.8677 | likely_pathogenic | 0.8205 | pathogenic | -1.329 | Destabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | N |
| V/R | 0.8465 | likely_pathogenic | 0.7934 | pathogenic | -0.715 | Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | N |
| V/S | 0.7429 | likely_pathogenic | 0.6658 | pathogenic | -1.651 | Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | N |
| V/T | 0.5491 | ambiguous | 0.4742 | ambiguous | -1.531 | Destabilizing | 0.999 | D | 0.59 | neutral | None | None | None | None | N |
| V/W | 0.9675 | likely_pathogenic | 0.9635 | pathogenic | -1.505 | Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | N |
| V/Y | 0.8926 | likely_pathogenic | 0.8693 | pathogenic | -1.166 | Destabilizing | 1.0 | D | 0.799 | 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.