Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 26310 | 79153;79154;79155 | chr2:178567204;178567203;178567202 | chr2:179431931;179431930;179431929 |
| N2AB | 24669 | 74230;74231;74232 | chr2:178567204;178567203;178567202 | chr2:179431931;179431930;179431929 |
| N2A | 23742 | 71449;71450;71451 | chr2:178567204;178567203;178567202 | chr2:179431931;179431930;179431929 |
| N2B | 17245 | 51958;51959;51960 | chr2:178567204;178567203;178567202 | chr2:179431931;179431930;179431929 |
| Novex-1 | 17370 | 52333;52334;52335 | chr2:178567204;178567203;178567202 | chr2:179431931;179431930;179431929 |
| Novex-2 | 17437 | 52534;52535;52536 | chr2:178567204;178567203;178567202 | chr2:179431931;179431930;179431929 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/L | rs754702040  |
-0.54 | 0.004 | N | 0.501 | 0.347 | None | gnomAD-2.1.1 | 3.95E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.29E-05 | None | 0 | 7.87E-05 | 0 |
| P/L | rs754702040 |
-0.54 | 0.004 | N | 0.501 | 0.347 | None | gnomAD-3.1.2 | 3.29E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 7.35E-05 | 0 | 0 |
| P/L | rs754702040 |
-0.54 | 0.004 | N | 0.501 | 0.347 | None | gnomAD-4.0.0 | 5.21096E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 6.87108E-05 | 2.19974E-05 | 1.60333E-05 |
| P/T | rs1260101727 |
-1.908 | 0.638 | N | 0.625 | 0.435 | 0.417334834585 | gnomAD-2.1.1 | 4.05E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.57E-05 | None | 0 | None | 0 | 0 | 0 |
| P/T | rs1260101727 |
-1.908 | 0.638 | N | 0.625 | 0.435 | 0.417334834585 | gnomAD-4.0.0 | 1.59551E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.77562E-05 | None | 0 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.062 | likely_benign | 0.0616 | benign | -1.766 | Destabilizing | 0.007 | N | 0.323 | neutral | N | 0.495876875 | None | None | N |
| P/C | 0.387 | ambiguous | 0.3675 | ambiguous | -1.192 | Destabilizing | 0.982 | D | 0.757 | deleterious | None | None | None | None | N |
| P/D | 0.5951 | likely_pathogenic | 0.5831 | pathogenic | -1.848 | Destabilizing | 0.826 | D | 0.656 | neutral | None | None | None | None | N |
| P/E | 0.2931 | likely_benign | 0.297 | benign | -1.762 | Destabilizing | 0.826 | D | 0.628 | neutral | None | None | None | None | N |
| P/F | 0.4509 | ambiguous | 0.3773 | ambiguous | -1.241 | Destabilizing | 0.539 | D | 0.771 | deleterious | None | None | None | None | N |
| P/G | 0.3158 | likely_benign | 0.3158 | benign | -2.163 | Highly Destabilizing | 0.399 | N | 0.607 | neutral | None | None | None | None | N |
| P/H | 0.1714 | likely_benign | 0.1594 | benign | -1.682 | Destabilizing | 0.982 | D | 0.705 | prob.neutral | None | None | None | None | N |
| P/I | 0.2421 | likely_benign | 0.186 | benign | -0.729 | Destabilizing | 0.539 | D | 0.709 | prob.delet. | None | None | None | None | N |
| P/K | 0.2065 | likely_benign | 0.2123 | benign | -1.58 | Destabilizing | 0.826 | D | 0.622 | neutral | None | None | None | None | N |
| P/L | 0.1019 | likely_benign | 0.0901 | benign | -0.729 | Destabilizing | 0.004 | N | 0.501 | neutral | N | 0.505306932 | None | None | N |
| P/M | 0.2433 | likely_benign | 0.212 | benign | -0.585 | Destabilizing | 0.815 | D | 0.705 | prob.neutral | None | None | None | None | N |
| P/N | 0.3676 | ambiguous | 0.3535 | ambiguous | -1.527 | Destabilizing | 0.935 | D | 0.713 | prob.delet. | None | None | None | None | N |
| P/Q | 0.1205 | likely_benign | 0.1237 | benign | -1.576 | Destabilizing | 0.916 | D | 0.695 | prob.neutral | N | 0.490418681 | None | None | N |
| P/R | 0.1361 | likely_benign | 0.1383 | benign | -1.13 | Destabilizing | 0.781 | D | 0.711 | prob.delet. | N | 0.49698882 | None | None | N |
| P/S | 0.1182 | likely_benign | 0.1169 | benign | -2.065 | Highly Destabilizing | 0.201 | N | 0.579 | neutral | N | 0.501014518 | None | None | N |
| P/T | 0.1163 | likely_benign | 0.1055 | benign | -1.85 | Destabilizing | 0.638 | D | 0.625 | neutral | N | 0.49978675 | None | None | N |
| P/V | 0.157 | likely_benign | 0.1227 | benign | -1.043 | Destabilizing | 0.25 | N | 0.586 | neutral | None | None | None | None | N |
| P/W | 0.6749 | likely_pathogenic | 0.6075 | pathogenic | -1.529 | Destabilizing | 0.982 | D | 0.697 | prob.neutral | None | None | None | None | N |
| P/Y | 0.4295 | ambiguous | 0.3838 | ambiguous | -1.212 | Destabilizing | 0.826 | D | 0.774 | 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.