Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 17498 | 52717;52718;52719 | chr2:178608391;178608390;178608389 | chr2:179473118;179473117;179473116 |
| N2AB | 15857 | 47794;47795;47796 | chr2:178608391;178608390;178608389 | chr2:179473118;179473117;179473116 |
| N2A | 14930 | 45013;45014;45015 | chr2:178608391;178608390;178608389 | chr2:179473118;179473117;179473116 |
| N2B | 8433 | 25522;25523;25524 | chr2:178608391;178608390;178608389 | chr2:179473118;179473117;179473116 |
| Novex-1 | 8558 | 25897;25898;25899 | chr2:178608391;178608390;178608389 | chr2:179473118;179473117;179473116 |
| Novex-2 | 8625 | 26098;26099;26100 | chr2:178608391;178608390;178608389 | chr2:179473118;179473117;179473116 |
| 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/A | None | None | 1.0 | N | 0.61 | 0.486 | 0.30921473904 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 6.07533E-05 | 0 |
| G/R | rs1314384507  |
-0.261 | 1.0 | N | 0.783 | 0.654 | 0.641217788028 | gnomAD-2.1.1 | 4.11E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 4.69E-05 | 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 | 0.868 | likely_pathogenic | 0.8685 | pathogenic | -0.219 | Destabilizing | 1.0 | D | 0.61 | neutral | N | 0.493739 | None | None | I |
| G/C | 0.9168 | likely_pathogenic | 0.9133 | pathogenic | -0.883 | Destabilizing | 1.0 | D | 0.785 | deleterious | None | None | None | None | I |
| G/D | 0.861 | likely_pathogenic | 0.8475 | pathogenic | -0.664 | Destabilizing | 1.0 | D | 0.673 | neutral | None | None | None | None | I |
| G/E | 0.9405 | likely_pathogenic | 0.9325 | pathogenic | -0.829 | Destabilizing | 1.0 | D | 0.779 | deleterious | N | 0.511336276 | None | None | I |
| G/F | 0.9895 | likely_pathogenic | 0.9896 | pathogenic | -1.045 | Destabilizing | 1.0 | D | 0.772 | deleterious | None | None | None | None | I |
| G/H | 0.9411 | likely_pathogenic | 0.9372 | pathogenic | -0.342 | Destabilizing | 1.0 | D | 0.767 | deleterious | None | None | None | None | I |
| G/I | 0.988 | likely_pathogenic | 0.9867 | pathogenic | -0.495 | Destabilizing | 1.0 | D | 0.783 | deleterious | None | None | None | None | I |
| G/K | 0.9462 | likely_pathogenic | 0.9425 | pathogenic | -0.617 | Destabilizing | 1.0 | D | 0.778 | deleterious | None | None | None | None | I |
| G/L | 0.9819 | likely_pathogenic | 0.9807 | pathogenic | -0.495 | Destabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | I |
| G/M | 0.9878 | likely_pathogenic | 0.9873 | pathogenic | -0.562 | Destabilizing | 1.0 | D | 0.782 | deleterious | None | None | None | None | I |
| G/N | 0.867 | likely_pathogenic | 0.8521 | pathogenic | -0.303 | Destabilizing | 1.0 | D | 0.669 | neutral | None | None | None | None | I |
| G/P | 0.9987 | likely_pathogenic | 0.9986 | pathogenic | -0.378 | Destabilizing | 1.0 | D | 0.782 | deleterious | None | None | None | None | I |
| G/Q | 0.9172 | likely_pathogenic | 0.9037 | pathogenic | -0.594 | Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | I |
| G/R | 0.8954 | likely_pathogenic | 0.8886 | pathogenic | -0.184 | Destabilizing | 1.0 | D | 0.783 | deleterious | N | 0.499979971 | None | None | I |
| G/S | 0.6741 | likely_pathogenic | 0.6481 | pathogenic | -0.418 | Destabilizing | 1.0 | D | 0.688 | prob.neutral | None | None | None | None | I |
| G/T | 0.9546 | likely_pathogenic | 0.95 | pathogenic | -0.523 | Destabilizing | 1.0 | D | 0.779 | deleterious | None | None | None | None | I |
| G/V | 0.98 | likely_pathogenic | 0.9788 | pathogenic | -0.378 | Destabilizing | 1.0 | D | 0.782 | deleterious | D | 0.524378103 | None | None | I |
| G/W | 0.984 | likely_pathogenic | 0.9845 | pathogenic | -1.145 | Destabilizing | 1.0 | D | 0.775 | deleterious | None | None | None | None | I |
| G/Y | 0.9753 | likely_pathogenic | 0.9746 | pathogenic | -0.827 | Destabilizing | 1.0 | D | 0.767 | 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.