Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 18721 | 56386;56387;56388 | chr2:178599740;178599739;178599738 | chr2:179464467;179464466;179464465 |
| N2AB | 17080 | 51463;51464;51465 | chr2:178599740;178599739;178599738 | chr2:179464467;179464466;179464465 |
| N2A | 16153 | 48682;48683;48684 | chr2:178599740;178599739;178599738 | chr2:179464467;179464466;179464465 |
| N2B | 9656 | 29191;29192;29193 | chr2:178599740;178599739;178599738 | chr2:179464467;179464466;179464465 |
| Novex-1 | 9781 | 29566;29567;29568 | chr2:178599740;178599739;178599738 | chr2:179464467;179464466;179464465 |
| Novex-2 | 9848 | 29767;29768;29769 | chr2:178599740;178599739;178599738 | chr2:179464467;179464466;179464465 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/S | None | None | 1.0 | N | 0.593 | 0.261 | 0.350524144436 | gnomAD-4.0.0 | 1.59343E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86193E-06 | 0 | 0 |
| A/V | rs1484664592  |
None | 1.0 | N | 0.646 | 0.334 | 0.573547766065 | gnomAD-4.0.0 | 4.10764E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.69948E-06 | 3.48254E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.5706 | likely_pathogenic | 0.5283 | ambiguous | -1.445 | Destabilizing | 1.0 | D | 0.727 | prob.delet. | None | None | None | None | N |
| A/D | 0.7448 | likely_pathogenic | 0.6957 | pathogenic | -2.597 | Highly Destabilizing | 1.0 | D | 0.819 | deleterious | N | 0.41748038 | None | None | N |
| A/E | 0.7054 | likely_pathogenic | 0.6358 | pathogenic | -2.479 | Highly Destabilizing | 1.0 | D | 0.818 | deleterious | None | None | None | None | N |
| A/F | 0.6461 | likely_pathogenic | 0.5921 | pathogenic | -0.827 | Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | N |
| A/G | 0.1535 | likely_benign | 0.1602 | benign | -1.659 | Destabilizing | 1.0 | D | 0.593 | neutral | N | 0.459695149 | None | None | N |
| A/H | 0.8006 | likely_pathogenic | 0.7497 | pathogenic | -1.787 | Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | N |
| A/I | 0.6254 | likely_pathogenic | 0.5579 | ambiguous | -0.328 | Destabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | N |
| A/K | 0.8746 | likely_pathogenic | 0.843 | pathogenic | -1.369 | Destabilizing | 1.0 | D | 0.825 | deleterious | None | None | None | None | N |
| A/L | 0.4869 | ambiguous | 0.4309 | ambiguous | -0.328 | Destabilizing | 1.0 | D | 0.774 | deleterious | None | None | None | None | N |
| A/M | 0.5268 | ambiguous | 0.4553 | ambiguous | -0.595 | Destabilizing | 1.0 | D | 0.81 | deleterious | None | None | None | None | N |
| A/N | 0.624 | likely_pathogenic | 0.5681 | pathogenic | -1.521 | Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | N |
| A/P | 0.9019 | likely_pathogenic | 0.9218 | pathogenic | -0.609 | Destabilizing | 1.0 | D | 0.831 | deleterious | N | 0.480745212 | None | None | N |
| A/Q | 0.6908 | likely_pathogenic | 0.6428 | pathogenic | -1.488 | Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | N |
| A/R | 0.8114 | likely_pathogenic | 0.7817 | pathogenic | -1.254 | Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | N |
| A/S | 0.1193 | likely_benign | 0.1098 | benign | -1.859 | Destabilizing | 1.0 | D | 0.593 | neutral | N | 0.502043204 | None | None | N |
| A/T | 0.2514 | likely_benign | 0.2059 | benign | -1.648 | Destabilizing | 1.0 | D | 0.689 | prob.neutral | D | 0.526093499 | None | None | N |
| A/V | 0.3558 | ambiguous | 0.2842 | benign | -0.609 | Destabilizing | 1.0 | D | 0.646 | neutral | N | 0.498869613 | None | None | N |
| A/W | 0.928 | likely_pathogenic | 0.9158 | pathogenic | -1.423 | Destabilizing | 1.0 | D | 0.808 | deleterious | None | None | None | None | N |
| A/Y | 0.6935 | likely_pathogenic | 0.6485 | pathogenic | -1.004 | Destabilizing | 1.0 | D | 0.83 | 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.