Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 24678 | 74257;74258;74259 | chr2:178572100;178572099;178572098 | chr2:179436827;179436826;179436825 |
| N2AB | 23037 | 69334;69335;69336 | chr2:178572100;178572099;178572098 | chr2:179436827;179436826;179436825 |
| N2A | 22110 | 66553;66554;66555 | chr2:178572100;178572099;178572098 | chr2:179436827;179436826;179436825 |
| N2B | 15613 | 47062;47063;47064 | chr2:178572100;178572099;178572098 | chr2:179436827;179436826;179436825 |
| Novex-1 | 15738 | 47437;47438;47439 | chr2:178572100;178572099;178572098 | chr2:179436827;179436826;179436825 |
| Novex-2 | 15805 | 47638;47639;47640 | chr2:178572100;178572099;178572098 | chr2:179436827;179436826;179436825 |
| 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/E | rs1708418492  |
None | 0.998 | N | 0.773 | 0.48 | 0.581056753333 | gnomAD-4.0.0 | 3.18518E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.56948E-05 | None | 0 | 0 | 0 | 0 | 0 |
| G/R | rs756307970 |
-0.109 | 1.0 | N | 0.77 | 0.466 | 0.613267566169 | gnomAD-2.1.1 | 8.07E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 6.54E-05 | None | 0 | 0 | 0 |
| G/R | rs756307970 |
-0.109 | 1.0 | N | 0.77 | 0.466 | 0.613267566169 | gnomAD-4.0.0 | 3.18522E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 2.86681E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.283 | likely_benign | 0.2717 | benign | -0.257 | Destabilizing | 0.968 | D | 0.643 | neutral | N | 0.515613281 | None | None | N |
| G/C | 0.4928 | ambiguous | 0.4876 | ambiguous | -0.867 | Destabilizing | 1.0 | D | 0.742 | deleterious | None | None | None | None | N |
| G/D | 0.4142 | ambiguous | 0.4166 | ambiguous | -0.401 | Destabilizing | 0.999 | D | 0.743 | deleterious | None | None | None | None | N |
| G/E | 0.5709 | likely_pathogenic | 0.5707 | pathogenic | -0.553 | Destabilizing | 0.998 | D | 0.773 | deleterious | N | 0.48718945 | None | None | N |
| G/F | 0.9047 | likely_pathogenic | 0.8986 | pathogenic | -0.945 | Destabilizing | 0.995 | D | 0.784 | deleterious | None | None | None | None | N |
| G/H | 0.6099 | likely_pathogenic | 0.6152 | pathogenic | -0.469 | Destabilizing | 1.0 | D | 0.731 | prob.delet. | None | None | None | None | N |
| G/I | 0.8218 | likely_pathogenic | 0.8209 | pathogenic | -0.364 | Destabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | N |
| G/K | 0.7518 | likely_pathogenic | 0.7485 | pathogenic | -0.743 | Destabilizing | 0.999 | D | 0.771 | deleterious | None | None | None | None | N |
| G/L | 0.8187 | likely_pathogenic | 0.8048 | pathogenic | -0.364 | Destabilizing | 0.997 | D | 0.776 | deleterious | None | None | None | None | N |
| G/M | 0.8075 | likely_pathogenic | 0.7978 | pathogenic | -0.475 | Destabilizing | 1.0 | D | 0.743 | deleterious | None | None | None | None | N |
| G/N | 0.2955 | likely_benign | 0.2985 | benign | -0.397 | Destabilizing | 1.0 | D | 0.746 | deleterious | None | None | None | None | N |
| G/P | 0.9695 | likely_pathogenic | 0.9702 | pathogenic | -0.295 | Destabilizing | 1.0 | D | 0.771 | deleterious | None | None | None | None | N |
| G/Q | 0.607 | likely_pathogenic | 0.6 | pathogenic | -0.652 | Destabilizing | 1.0 | D | 0.779 | deleterious | None | None | None | None | N |
| G/R | 0.6413 | likely_pathogenic | 0.631 | pathogenic | -0.327 | Destabilizing | 1.0 | D | 0.77 | deleterious | N | 0.476037409 | None | None | N |
| G/S | 0.1351 | likely_benign | 0.1322 | benign | -0.578 | Destabilizing | 0.993 | D | 0.756 | deleterious | None | None | None | None | N |
| G/T | 0.3648 | ambiguous | 0.3695 | ambiguous | -0.651 | Destabilizing | 0.999 | D | 0.759 | deleterious | None | None | None | None | N |
| G/V | 0.674 | likely_pathogenic | 0.6665 | pathogenic | -0.295 | Destabilizing | 0.998 | D | 0.786 | deleterious | D | 0.531350906 | None | None | N |
| G/W | 0.8241 | likely_pathogenic | 0.8204 | pathogenic | -1.106 | Destabilizing | 0.652 | D | 0.483 | neutral | None | None | None | None | N |
| G/Y | 0.7805 | likely_pathogenic | 0.7782 | pathogenic | -0.747 | Destabilizing | 0.995 | D | 0.783 | 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.