Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 24567 | 73924;73925;73926 | chr2:178572433;178572432;178572431 | chr2:179437160;179437159;179437158 |
| N2AB | 22926 | 69001;69002;69003 | chr2:178572433;178572432;178572431 | chr2:179437160;179437159;179437158 |
| N2A | 21999 | 66220;66221;66222 | chr2:178572433;178572432;178572431 | chr2:179437160;179437159;179437158 |
| N2B | 15502 | 46729;46730;46731 | chr2:178572433;178572432;178572431 | chr2:179437160;179437159;179437158 |
| Novex-1 | 15627 | 47104;47105;47106 | chr2:178572433;178572432;178572431 | chr2:179437160;179437159;179437158 |
| Novex-2 | 15694 | 47305;47306;47307 | chr2:178572433;178572432;178572431 | chr2:179437160;179437159;179437158 |
| 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/A | rs1415840930  |
-0.441 | 0.086 | N | 0.199 | 0.092 | 0.126345400529 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.89E-06 | 0 |
| S/A | rs1415840930 |
-0.441 | 0.086 | N | 0.199 | 0.092 | 0.126345400529 | gnomAD-4.0.0 | 6.84665E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.00041E-07 | 0 | 0 |
| S/P | None | None | 0.999 | N | 0.737 | 0.281 | 0.303453137403 | gnomAD-4.0.0 | 2.054E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 3.47947E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.0725 | likely_benign | 0.0663 | benign | -0.702 | Destabilizing | 0.086 | N | 0.199 | neutral | N | 0.44696542 | None | None | N |
| S/C | 0.1521 | likely_benign | 0.1357 | benign | -0.545 | Destabilizing | 1.0 | D | 0.714 | prob.delet. | None | None | None | None | N |
| S/D | 0.9534 | likely_pathogenic | 0.9383 | pathogenic | -0.041 | Destabilizing | 0.996 | D | 0.577 | neutral | None | None | None | None | N |
| S/E | 0.9481 | likely_pathogenic | 0.9416 | pathogenic | -0.087 | Destabilizing | 0.997 | D | 0.535 | neutral | None | None | None | None | N |
| S/F | 0.5759 | likely_pathogenic | 0.4931 | ambiguous | -0.977 | Destabilizing | 1.0 | D | 0.755 | deleterious | None | None | None | None | N |
| S/G | 0.2052 | likely_benign | 0.1794 | benign | -0.897 | Destabilizing | 0.996 | D | 0.493 | neutral | None | None | None | None | N |
| S/H | 0.8168 | likely_pathogenic | 0.7916 | pathogenic | -1.314 | Destabilizing | 1.0 | D | 0.707 | prob.neutral | None | None | None | None | N |
| S/I | 0.3952 | ambiguous | 0.3643 | ambiguous | -0.301 | Destabilizing | 1.0 | D | 0.755 | deleterious | None | None | None | None | N |
| S/K | 0.983 | likely_pathogenic | 0.9789 | pathogenic | -0.761 | Destabilizing | 0.999 | D | 0.536 | neutral | None | None | None | None | N |
| S/L | 0.1905 | likely_benign | 0.1655 | benign | -0.301 | Destabilizing | 0.997 | D | 0.582 | neutral | N | 0.506128367 | None | None | N |
| S/M | 0.294 | likely_benign | 0.2835 | benign | -0.062 | Destabilizing | 1.0 | D | 0.708 | prob.delet. | None | None | None | None | N |
| S/N | 0.5018 | ambiguous | 0.4612 | ambiguous | -0.589 | Destabilizing | 0.997 | D | 0.602 | neutral | None | None | None | None | N |
| S/P | 0.9713 | likely_pathogenic | 0.9623 | pathogenic | -0.403 | Destabilizing | 0.999 | D | 0.737 | prob.delet. | N | 0.485611926 | None | None | N |
| S/Q | 0.8296 | likely_pathogenic | 0.8225 | pathogenic | -0.806 | Destabilizing | 1.0 | D | 0.688 | prob.neutral | None | None | None | None | N |
| S/R | 0.9727 | likely_pathogenic | 0.9659 | pathogenic | -0.543 | Destabilizing | 1.0 | D | 0.742 | deleterious | None | None | None | None | N |
| S/T | 0.124 | likely_benign | 0.1148 | benign | -0.684 | Destabilizing | 0.918 | D | 0.472 | neutral | N | 0.458278492 | None | None | N |
| S/V | 0.2773 | likely_benign | 0.2531 | benign | -0.403 | Destabilizing | 0.998 | D | 0.647 | neutral | None | None | None | None | N |
| S/W | 0.8485 | likely_pathogenic | 0.8004 | pathogenic | -0.912 | Destabilizing | 1.0 | D | 0.747 | deleterious | None | None | None | None | N |
| S/Y | 0.6349 | likely_pathogenic | 0.5638 | ambiguous | -0.681 | Destabilizing | 1.0 | D | 0.746 | deleterious | None | None | None | None | N |
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.