Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 26699 | 80320;80321;80322 | chr2:178566037;178566036;178566035 | chr2:179430764;179430763;179430762 |
| N2AB | 25058 | 75397;75398;75399 | chr2:178566037;178566036;178566035 | chr2:179430764;179430763;179430762 |
| N2A | 24131 | 72616;72617;72618 | chr2:178566037;178566036;178566035 | chr2:179430764;179430763;179430762 |
| N2B | 17634 | 53125;53126;53127 | chr2:178566037;178566036;178566035 | chr2:179430764;179430763;179430762 |
| Novex-1 | 17759 | 53500;53501;53502 | chr2:178566037;178566036;178566035 | chr2:179430764;179430763;179430762 |
| Novex-2 | 17826 | 53701;53702;53703 | chr2:178566037;178566036;178566035 | chr2:179430764;179430763;179430762 |
| 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/P | rs1444605407  |
-0.637 | 0.997 | D | 0.791 | 0.576 | 0.359357374593 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| S/P | rs1444605407 |
-0.637 | 0.997 | D | 0.791 | 0.576 | 0.359357374593 | gnomAD-4.0.0 | 3.1838E-06 | None | None | None | None | N | None | 0 | 2.28728E-05 | None | 0 | 0 | None | 0 | 0 | 2.85956E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.089 | likely_benign | 0.0952 | benign | -0.565 | Destabilizing | 0.528 | D | 0.55 | neutral | N | 0.489800024 | None | None | N |
| S/C | 0.0735 | likely_benign | 0.0755 | benign | -0.853 | Destabilizing | 1.0 | D | 0.739 | prob.delet. | N | 0.493144614 | None | None | N |
| S/D | 0.6652 | likely_pathogenic | 0.6865 | pathogenic | -1.799 | Destabilizing | 0.998 | D | 0.652 | neutral | None | None | None | None | N |
| S/E | 0.6804 | likely_pathogenic | 0.7104 | pathogenic | -1.727 | Destabilizing | 0.982 | D | 0.629 | neutral | None | None | None | None | N |
| S/F | 0.1746 | likely_benign | 0.1251 | benign | -0.641 | Destabilizing | 0.645 | D | 0.531 | neutral | N | 0.497334896 | None | None | N |
| S/G | 0.1159 | likely_benign | 0.1439 | benign | -0.842 | Destabilizing | 0.986 | D | 0.6 | neutral | None | None | None | None | N |
| S/H | 0.3334 | likely_benign | 0.3064 | benign | -1.29 | Destabilizing | 0.998 | D | 0.762 | deleterious | None | None | None | None | N |
| S/I | 0.2747 | likely_benign | 0.2746 | benign | 0.082 | Stabilizing | 0.999 | D | 0.747 | deleterious | None | None | None | None | N |
| S/K | 0.8311 | likely_pathogenic | 0.8468 | pathogenic | -0.792 | Destabilizing | 1.0 | D | 0.631 | neutral | None | None | None | None | N |
| S/L | 0.1657 | likely_benign | 0.1697 | benign | 0.082 | Stabilizing | 0.997 | D | 0.659 | neutral | None | None | None | None | N |
| S/M | 0.1851 | likely_benign | 0.1983 | benign | 0.171 | Stabilizing | 1.0 | D | 0.755 | deleterious | None | None | None | None | N |
| S/N | 0.2299 | likely_benign | 0.2562 | benign | -1.213 | Destabilizing | 0.94 | D | 0.626 | neutral | None | None | None | None | N |
| S/P | 0.9775 | likely_pathogenic | 0.9798 | pathogenic | -0.1 | Destabilizing | 0.997 | D | 0.791 | deleterious | D | 0.546545553 | None | None | N |
| S/Q | 0.5653 | likely_pathogenic | 0.5977 | pathogenic | -1.315 | Destabilizing | 0.998 | D | 0.704 | prob.neutral | None | None | None | None | N |
| S/R | 0.7446 | likely_pathogenic | 0.7603 | pathogenic | -0.719 | Destabilizing | 1.0 | D | 0.79 | deleterious | None | None | None | None | N |
| S/T | 0.0912 | likely_benign | 0.0952 | benign | -0.929 | Destabilizing | 0.355 | N | 0.609 | neutral | N | 0.5064033 | None | None | N |
| S/V | 0.228 | likely_benign | 0.2319 | benign | -0.1 | Destabilizing | 0.993 | D | 0.697 | prob.neutral | None | None | None | None | N |
| S/W | 0.4045 | ambiguous | 0.3202 | benign | -0.813 | Destabilizing | 1.0 | D | 0.794 | deleterious | None | None | None | None | N |
| S/Y | 0.1958 | likely_benign | 0.1487 | benign | -0.424 | Destabilizing | 0.3 | N | 0.471 | neutral | N | 0.491877166 | 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.