Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 22480 | 67663;67664;67665 | chr2:178579759;178579758;178579757 | chr2:179444486;179444485;179444484 |
| N2AB | 20839 | 62740;62741;62742 | chr2:178579759;178579758;178579757 | chr2:179444486;179444485;179444484 |
| N2A | 19912 | 59959;59960;59961 | chr2:178579759;178579758;178579757 | chr2:179444486;179444485;179444484 |
| N2B | 13415 | 40468;40469;40470 | chr2:178579759;178579758;178579757 | chr2:179444486;179444485;179444484 |
| Novex-1 | 13540 | 40843;40844;40845 | chr2:178579759;178579758;178579757 | chr2:179444486;179444485;179444484 |
| Novex-2 | 13607 | 41044;41045;41046 | chr2:178579759;178579758;178579757 | chr2:179444486;179444485;179444484 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/R | rs778919674  |
-0.03 | 1.0 | N | 0.812 | 0.604 | 0.675777964347 | gnomAD-4.0.0 | 1.59229E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.8601E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.8842 | likely_pathogenic | 0.8522 | pathogenic | -0.158 | Destabilizing | 1.0 | D | 0.623 | neutral | N | 0.495728734 | None | None | I |
| G/C | 0.9461 | likely_pathogenic | 0.9188 | pathogenic | -0.839 | Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | I |
| G/D | 0.9735 | likely_pathogenic | 0.9607 | pathogenic | -0.357 | Destabilizing | 1.0 | D | 0.714 | prob.delet. | None | None | None | None | I |
| G/E | 0.9826 | likely_pathogenic | 0.9749 | pathogenic | -0.503 | Destabilizing | 1.0 | D | 0.803 | deleterious | N | 0.515580963 | None | None | I |
| G/F | 0.9887 | likely_pathogenic | 0.9836 | pathogenic | -0.927 | Destabilizing | 1.0 | D | 0.788 | deleterious | None | None | None | None | I |
| G/H | 0.989 | likely_pathogenic | 0.9821 | pathogenic | -0.282 | Destabilizing | 1.0 | D | 0.786 | deleterious | None | None | None | None | I |
| G/I | 0.9845 | likely_pathogenic | 0.9754 | pathogenic | -0.427 | Destabilizing | 1.0 | D | 0.802 | deleterious | None | None | None | None | I |
| G/K | 0.9851 | likely_pathogenic | 0.9793 | pathogenic | -0.365 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | I |
| G/L | 0.9869 | likely_pathogenic | 0.9784 | pathogenic | -0.427 | Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | I |
| G/M | 0.993 | likely_pathogenic | 0.9877 | pathogenic | -0.504 | Destabilizing | 1.0 | D | 0.794 | deleterious | None | None | None | None | I |
| G/N | 0.9683 | likely_pathogenic | 0.9507 | pathogenic | -0.141 | Destabilizing | 1.0 | D | 0.699 | prob.neutral | None | None | None | None | I |
| G/P | 0.9976 | likely_pathogenic | 0.9968 | pathogenic | -0.315 | Destabilizing | 1.0 | D | 0.81 | deleterious | None | None | None | None | I |
| G/Q | 0.9818 | likely_pathogenic | 0.9721 | pathogenic | -0.377 | Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | I |
| G/R | 0.9581 | likely_pathogenic | 0.949 | pathogenic | -0.05 | Destabilizing | 1.0 | D | 0.812 | deleterious | N | 0.501844801 | None | None | I |
| G/S | 0.811 | likely_pathogenic | 0.7414 | pathogenic | -0.292 | Destabilizing | 1.0 | D | 0.711 | prob.delet. | None | None | None | None | I |
| G/T | 0.9677 | likely_pathogenic | 0.9469 | pathogenic | -0.373 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | I |
| G/V | 0.976 | likely_pathogenic | 0.9629 | pathogenic | -0.315 | Destabilizing | 1.0 | D | 0.801 | deleterious | D | 0.545801992 | None | None | I |
| G/W | 0.9838 | likely_pathogenic | 0.9795 | pathogenic | -1.025 | Destabilizing | 1.0 | D | 0.79 | deleterious | None | None | None | None | I |
| G/Y | 0.9857 | likely_pathogenic | 0.9788 | pathogenic | -0.707 | Destabilizing | 1.0 | D | 0.781 | deleterious | 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.