Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 15469 | 46630;46631;46632 | chr2:178620012;178620011;178620010 | chr2:179484739;179484738;179484737 |
| N2AB | 13828 | 41707;41708;41709 | chr2:178620012;178620011;178620010 | chr2:179484739;179484738;179484737 |
| N2A | 12901 | 38926;38927;38928 | chr2:178620012;178620011;178620010 | chr2:179484739;179484738;179484737 |
| N2B | 6404 | 19435;19436;19437 | chr2:178620012;178620011;178620010 | chr2:179484739;179484738;179484737 |
| Novex-1 | 6529 | 19810;19811;19812 | chr2:178620012;178620011;178620010 | chr2:179484739;179484738;179484737 |
| Novex-2 | 6596 | 20011;20012;20013 | chr2:178620012;178620011;178620010 | chr2:179484739;179484738;179484737 |
| 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/F | rs376373678  |
-0.745 | 0.999 | D | 0.748 | 0.624 | None | gnomAD-2.1.1 | 1.63E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 2.71E-05 | 1.67842E-04 |
| S/F | rs376373678 |
-0.745 | 0.999 | D | 0.748 | 0.624 | None | gnomAD-3.1.2 | 2.64E-05 | None | None | None | None | N | None | 2.42E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 4.42E-05 | 0 | 0 |
| S/F | rs376373678 |
-0.745 | 0.999 | D | 0.748 | 0.624 | None | gnomAD-4.0.0 | 3.78731E-05 | None | None | None | None | N | None | 1.33897E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 4.58202E-05 | 0 | 9.62835E-05 |
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 | 0.253 | likely_benign | 0.3806 | ambiguous | -0.724 | Destabilizing | 0.948 | D | 0.543 | neutral | D | 0.535845221 | None | None | N |
| S/C | 0.3483 | ambiguous | 0.4789 | ambiguous | -0.319 | Destabilizing | 1.0 | D | 0.745 | deleterious | N | 0.509900218 | None | None | N |
| S/D | 0.9574 | likely_pathogenic | 0.9742 | pathogenic | -0.633 | Destabilizing | 0.992 | D | 0.647 | neutral | None | None | None | None | N |
| S/E | 0.97 | likely_pathogenic | 0.98 | pathogenic | -0.54 | Destabilizing | 0.992 | D | 0.655 | neutral | None | None | None | None | N |
| S/F | 0.9484 | likely_pathogenic | 0.9719 | pathogenic | -0.52 | Destabilizing | 0.999 | D | 0.748 | deleterious | D | 0.669603219 | None | None | N |
| S/G | 0.4272 | ambiguous | 0.5793 | pathogenic | -1.076 | Destabilizing | 0.992 | D | 0.623 | neutral | None | None | None | None | N |
| S/H | 0.9325 | likely_pathogenic | 0.9555 | pathogenic | -1.403 | Destabilizing | 1.0 | D | 0.743 | deleterious | None | None | None | None | N |
| S/I | 0.848 | likely_pathogenic | 0.9214 | pathogenic | 0.14 | Stabilizing | 0.995 | D | 0.727 | prob.delet. | None | None | None | None | N |
| S/K | 0.9925 | likely_pathogenic | 0.9952 | pathogenic | -0.685 | Destabilizing | 0.983 | D | 0.65 | neutral | None | None | None | None | N |
| S/L | 0.7322 | likely_pathogenic | 0.8556 | pathogenic | 0.14 | Stabilizing | 0.983 | D | 0.667 | neutral | None | None | None | None | N |
| S/M | 0.7628 | likely_pathogenic | 0.8544 | pathogenic | 0.286 | Stabilizing | 1.0 | D | 0.743 | deleterious | None | None | None | None | N |
| S/N | 0.7788 | likely_pathogenic | 0.8565 | pathogenic | -0.895 | Destabilizing | 0.992 | D | 0.649 | neutral | None | None | None | None | N |
| S/P | 0.9911 | likely_pathogenic | 0.9945 | pathogenic | -0.112 | Destabilizing | 0.999 | D | 0.717 | prob.delet. | D | 0.630206818 | None | None | N |
| S/Q | 0.9534 | likely_pathogenic | 0.9715 | pathogenic | -0.813 | Destabilizing | 0.999 | D | 0.745 | deleterious | None | None | None | None | N |
| S/R | 0.9908 | likely_pathogenic | 0.9941 | pathogenic | -0.766 | Destabilizing | 0.998 | D | 0.74 | deleterious | None | None | None | None | N |
| S/T | 0.2112 | likely_benign | 0.2298 | benign | -0.766 | Destabilizing | 0.198 | N | 0.331 | neutral | N | 0.467746809 | None | None | N |
| S/V | 0.7544 | likely_pathogenic | 0.853 | pathogenic | -0.112 | Destabilizing | 0.983 | D | 0.667 | neutral | None | None | None | None | N |
| S/W | 0.9572 | likely_pathogenic | 0.9731 | pathogenic | -0.658 | Destabilizing | 1.0 | D | 0.781 | deleterious | None | None | None | None | N |
| S/Y | 0.881 | likely_pathogenic | 0.9271 | pathogenic | -0.34 | Destabilizing | 0.999 | D | 0.749 | deleterious | D | 0.630310001 | 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.