Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 29418 | 88477;88478;88479 | chr2:178556902;178556901;178556900 | chr2:179421629;179421628;179421627 |
| N2AB | 27777 | 83554;83555;83556 | chr2:178556902;178556901;178556900 | chr2:179421629;179421628;179421627 |
| N2A | 26850 | 80773;80774;80775 | chr2:178556902;178556901;178556900 | chr2:179421629;179421628;179421627 |
| N2B | 20353 | 61282;61283;61284 | chr2:178556902;178556901;178556900 | chr2:179421629;179421628;179421627 |
| Novex-1 | 20478 | 61657;61658;61659 | chr2:178556902;178556901;178556900 | chr2:179421629;179421628;179421627 |
| Novex-2 | 20545 | 61858;61859;61860 | chr2:178556902;178556901;178556900 | chr2:179421629;179421628;179421627 |
| 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/C | rs553614377  |
None | 1.0 | N | 0.781 | 0.426 | 0.547039986869 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 5.6E-05 | None | 0 | None | 0 | 0 | 0 |
| S/Y | rs553614377 |
-0.954 | 1.0 | N | 0.837 | 0.404 | None | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | I | None | 6.46E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| S/Y | rs553614377 |
-0.954 | 1.0 | N | 0.837 | 0.404 | None | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | I | None | 7.24E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| S/Y | rs553614377 |
-0.954 | 1.0 | N | 0.837 | 0.404 | None | 1000 genomes | 1.99681E-04 | None | None | None | None | I | None | 8E-04 | 0 | None | None | 0 | 0 | None | None | None | 0 | None |
| S/Y | rs553614377 |
-0.954 | 1.0 | N | 0.837 | 0.404 | None | gnomAD-4.0.0 | 5.12374E-06 | None | None | None | None | I | None | 6.75242E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 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 | 0.1097 | likely_benign | 0.0918 | benign | -0.652 | Destabilizing | 0.997 | D | 0.464 | neutral | N | 0.433103194 | None | None | I |
| S/C | 0.1397 | likely_benign | 0.1158 | benign | -0.475 | Destabilizing | 1.0 | D | 0.781 | deleterious | N | 0.510257255 | None | None | I |
| S/D | 0.8262 | likely_pathogenic | 0.7771 | pathogenic | -0.616 | Destabilizing | 0.999 | D | 0.733 | prob.delet. | None | None | None | None | I |
| S/E | 0.8593 | likely_pathogenic | 0.8251 | pathogenic | -0.684 | Destabilizing | 0.999 | D | 0.718 | prob.delet. | None | None | None | None | I |
| S/F | 0.466 | ambiguous | 0.3565 | ambiguous | -1.243 | Destabilizing | 1.0 | D | 0.836 | deleterious | N | 0.503272568 | None | None | I |
| S/G | 0.1712 | likely_benign | 0.1473 | benign | -0.784 | Destabilizing | 0.999 | D | 0.592 | neutral | None | None | None | None | I |
| S/H | 0.6805 | likely_pathogenic | 0.6308 | pathogenic | -1.38 | Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | I |
| S/I | 0.3075 | likely_benign | 0.2481 | benign | -0.417 | Destabilizing | 1.0 | D | 0.802 | deleterious | None | None | None | None | I |
| S/K | 0.9452 | likely_pathogenic | 0.9274 | pathogenic | -0.636 | Destabilizing | 0.999 | D | 0.722 | prob.delet. | None | None | None | None | I |
| S/L | 0.1699 | likely_benign | 0.1364 | benign | -0.417 | Destabilizing | 1.0 | D | 0.747 | deleterious | None | None | None | None | I |
| S/M | 0.2908 | likely_benign | 0.2623 | benign | 0.124 | Stabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | I |
| S/N | 0.2704 | likely_benign | 0.2478 | benign | -0.516 | Destabilizing | 0.999 | D | 0.699 | prob.neutral | None | None | None | None | I |
| S/P | 0.9081 | likely_pathogenic | 0.8226 | pathogenic | -0.468 | Destabilizing | 1.0 | D | 0.793 | deleterious | N | 0.477568834 | None | None | I |
| S/Q | 0.7655 | likely_pathogenic | 0.7398 | pathogenic | -0.888 | Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | I |
| S/R | 0.9163 | likely_pathogenic | 0.8889 | pathogenic | -0.361 | Destabilizing | 1.0 | D | 0.79 | deleterious | None | None | None | None | I |
| S/T | 0.1142 | likely_benign | 0.0999 | benign | -0.567 | Destabilizing | 0.999 | D | 0.571 | neutral | N | 0.439741164 | None | None | I |
| S/V | 0.2737 | likely_benign | 0.2212 | benign | -0.468 | Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | I |
| S/W | 0.7127 | likely_pathogenic | 0.6222 | pathogenic | -1.191 | Destabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | I |
| S/Y | 0.4275 | ambiguous | 0.3457 | ambiguous | -0.915 | Destabilizing | 1.0 | D | 0.837 | deleterious | N | 0.493575649 | 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.