Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 21190 | 63793;63794;63795 | chr2:178587741;178587740;178587739 | chr2:179452468;179452467;179452466 |
| N2AB | 19549 | 58870;58871;58872 | chr2:178587741;178587740;178587739 | chr2:179452468;179452467;179452466 |
| N2A | 18622 | 56089;56090;56091 | chr2:178587741;178587740;178587739 | chr2:179452468;179452467;179452466 |
| N2B | 12125 | 36598;36599;36600 | chr2:178587741;178587740;178587739 | chr2:179452468;179452467;179452466 |
| Novex-1 | 12250 | 36973;36974;36975 | chr2:178587741;178587740;178587739 | chr2:179452468;179452467;179452466 |
| Novex-2 | 12317 | 37174;37175;37176 | chr2:178587741;178587740;178587739 | chr2:179452468;179452467;179452466 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/G | rs779738957  |
-1.006 | 1.0 | N | 0.754 | 0.486 | 0.668689390126 | gnomAD-2.1.1 | 8.09E-06 | None | None | None | None | I | None | 0 | 2.91E-05 | None | 0 | 0 | None | 0 | None | 0 | 8.94E-06 | 0 |
| C/G | rs779738957 |
-1.006 | 1.0 | N | 0.754 | 0.486 | 0.668689390126 | gnomAD-4.0.0 | 3.18873E-06 | None | None | None | None | I | None | 0 | 2.29106E-05 | None | 0 | 0 | None | 0 | 0 | 2.86293E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/A | 0.5245 | ambiguous | 0.484 | ambiguous | -0.904 | Destabilizing | 0.998 | D | 0.474 | neutral | None | None | None | None | I |
| C/D | 0.8633 | likely_pathogenic | 0.8068 | pathogenic | 0.467 | Stabilizing | 1.0 | D | 0.781 | deleterious | None | None | None | None | I |
| C/E | 0.8903 | likely_pathogenic | 0.8434 | pathogenic | 0.457 | Stabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | I |
| C/F | 0.396 | ambiguous | 0.3349 | benign | -0.81 | Destabilizing | 1.0 | D | 0.778 | deleterious | N | 0.451119757 | None | None | I |
| C/G | 0.3259 | likely_benign | 0.2855 | benign | -1.08 | Destabilizing | 1.0 | D | 0.754 | deleterious | N | 0.38097721 | None | None | I |
| C/H | 0.7262 | likely_pathogenic | 0.6396 | pathogenic | -1.211 | Destabilizing | 1.0 | D | 0.784 | deleterious | None | None | None | None | I |
| C/I | 0.6593 | likely_pathogenic | 0.6146 | pathogenic | -0.518 | Destabilizing | 1.0 | D | 0.728 | prob.delet. | None | None | None | None | I |
| C/K | 0.9105 | likely_pathogenic | 0.8676 | pathogenic | 0.008 | Stabilizing | 1.0 | D | 0.775 | deleterious | None | None | None | None | I |
| C/L | 0.5491 | ambiguous | 0.4958 | ambiguous | -0.518 | Destabilizing | 0.999 | D | 0.531 | neutral | None | None | None | None | I |
| C/M | 0.6133 | likely_pathogenic | 0.5862 | pathogenic | -0.089 | Destabilizing | 1.0 | D | 0.751 | deleterious | None | None | None | None | I |
| C/N | 0.5502 | ambiguous | 0.4777 | ambiguous | 0.304 | Stabilizing | 1.0 | D | 0.79 | deleterious | None | None | None | None | I |
| C/P | 0.9907 | likely_pathogenic | 0.9865 | pathogenic | -0.621 | Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | I |
| C/Q | 0.7299 | likely_pathogenic | 0.6575 | pathogenic | 0.17 | Stabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | I |
| C/R | 0.7587 | likely_pathogenic | 0.6674 | pathogenic | 0.209 | Stabilizing | 1.0 | D | 0.797 | deleterious | N | 0.445855407 | None | None | I |
| C/S | 0.3582 | ambiguous | 0.3055 | benign | -0.19 | Destabilizing | 1.0 | D | 0.689 | prob.neutral | N | 0.367893269 | None | None | I |
| C/T | 0.5524 | ambiguous | 0.5194 | ambiguous | -0.057 | Destabilizing | 1.0 | D | 0.68 | prob.neutral | None | None | None | None | I |
| C/V | 0.5431 | ambiguous | 0.5112 | ambiguous | -0.621 | Destabilizing | 0.999 | D | 0.609 | neutral | None | None | None | None | I |
| C/W | 0.809 | likely_pathogenic | 0.7512 | pathogenic | -0.746 | Destabilizing | 1.0 | D | 0.766 | deleterious | N | 0.451119757 | None | None | I |
| C/Y | 0.5643 | likely_pathogenic | 0.4745 | ambiguous | -0.632 | Destabilizing | 1.0 | D | 0.783 | deleterious | N | 0.463422448 | 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.