Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 22183 | 66772;66773;66774 | chr2:178581721;178581720;178581719 | chr2:179446448;179446447;179446446 |
| N2AB | 20542 | 61849;61850;61851 | chr2:178581721;178581720;178581719 | chr2:179446448;179446447;179446446 |
| N2A | 19615 | 59068;59069;59070 | chr2:178581721;178581720;178581719 | chr2:179446448;179446447;179446446 |
| N2B | 13118 | 39577;39578;39579 | chr2:178581721;178581720;178581719 | chr2:179446448;179446447;179446446 |
| Novex-1 | 13243 | 39952;39953;39954 | chr2:178581721;178581720;178581719 | chr2:179446448;179446447;179446446 |
| Novex-2 | 13310 | 40153;40154;40155 | chr2:178581721;178581720;178581719 | chr2:179446448;179446447;179446446 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/E | None | None | 1.0 | N | 0.449 | 0.317 | 0.351830644314 | gnomAD-4.0.0 | 6.8592E-07 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.16558E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.9544 | likely_pathogenic | 0.9686 | pathogenic | -0.836 | Destabilizing | 1.0 | D | 0.721 | prob.delet. | N | 0.496514159 | None | None | I |
| D/C | 0.9867 | likely_pathogenic | 0.992 | pathogenic | -0.385 | Destabilizing | 1.0 | D | 0.681 | prob.neutral | None | None | None | None | I |
| D/E | 0.9401 | likely_pathogenic | 0.9523 | pathogenic | -0.742 | Destabilizing | 1.0 | D | 0.449 | neutral | N | 0.490233508 | None | None | I |
| D/F | 0.9948 | likely_pathogenic | 0.996 | pathogenic | -0.618 | Destabilizing | 1.0 | D | 0.682 | prob.neutral | None | None | None | None | I |
| D/G | 0.9334 | likely_pathogenic | 0.9543 | pathogenic | -1.177 | Destabilizing | 1.0 | D | 0.687 | prob.neutral | N | 0.501655947 | None | None | I |
| D/H | 0.9595 | likely_pathogenic | 0.9762 | pathogenic | -1.015 | Destabilizing | 1.0 | D | 0.668 | neutral | N | 0.506491339 | None | None | I |
| D/I | 0.9907 | likely_pathogenic | 0.994 | pathogenic | 0.068 | Stabilizing | 1.0 | D | 0.702 | prob.neutral | None | None | None | None | I |
| D/K | 0.9889 | likely_pathogenic | 0.9931 | pathogenic | -0.65 | Destabilizing | 1.0 | D | 0.741 | deleterious | None | None | None | None | I |
| D/L | 0.9852 | likely_pathogenic | 0.9883 | pathogenic | 0.068 | Stabilizing | 1.0 | D | 0.711 | prob.delet. | None | None | None | None | I |
| D/M | 0.9964 | likely_pathogenic | 0.9976 | pathogenic | 0.636 | Stabilizing | 1.0 | D | 0.672 | neutral | None | None | None | None | I |
| D/N | 0.4343 | ambiguous | 0.5093 | ambiguous | -0.998 | Destabilizing | 1.0 | D | 0.693 | prob.neutral | N | 0.479486314 | None | None | I |
| D/P | 0.9912 | likely_pathogenic | 0.9936 | pathogenic | -0.21 | Destabilizing | 1.0 | D | 0.743 | deleterious | None | None | None | None | I |
| D/Q | 0.9827 | likely_pathogenic | 0.9896 | pathogenic | -0.865 | Destabilizing | 1.0 | D | 0.745 | deleterious | None | None | None | None | I |
| D/R | 0.9832 | likely_pathogenic | 0.9899 | pathogenic | -0.576 | Destabilizing | 1.0 | D | 0.732 | prob.delet. | None | None | None | None | I |
| D/S | 0.7456 | likely_pathogenic | 0.8157 | pathogenic | -1.299 | Destabilizing | 1.0 | D | 0.705 | prob.neutral | None | None | None | None | I |
| D/T | 0.9291 | likely_pathogenic | 0.9537 | pathogenic | -1.015 | Destabilizing | 1.0 | D | 0.747 | deleterious | None | None | None | None | I |
| D/V | 0.9749 | likely_pathogenic | 0.9838 | pathogenic | -0.21 | Destabilizing | 1.0 | D | 0.715 | prob.delet. | N | 0.514871903 | None | None | I |
| D/W | 0.9984 | likely_pathogenic | 0.9989 | pathogenic | -0.471 | Destabilizing | 1.0 | D | 0.672 | neutral | None | None | None | None | I |
| D/Y | 0.9557 | likely_pathogenic | 0.9682 | pathogenic | -0.398 | Destabilizing | 1.0 | D | 0.661 | neutral | D | 0.548233257 | 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.