Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 9724 | 29395;29396;29397 | chr2:178706704;178706703;178706702 | chr2:179571431;179571430;179571429 |
| N2AB | 9407 | 28444;28445;28446 | chr2:178706704;178706703;178706702 | chr2:179571431;179571430;179571429 |
| N2A | 8480 | 25663;25664;25665 | chr2:178706704;178706703;178706702 | chr2:179571431;179571430;179571429 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | None | None | 0.999 | None | 0.642 | 0.478 | 0.538745750885 | gnomAD-4.0.0 | 1.59494E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.8675E-06 | 0 | 0 |
| D/N | rs778955269  |
0.344 | 0.999 | None | 0.706 | 0.373 | 0.323342291347 | gnomAD-2.1.1 | 1.61E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 1.31406E-04 | None | 0 | 0 | 0 |
| D/N | rs778955269 |
0.344 | 0.999 | None | 0.706 | 0.373 | 0.323342291347 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 0 | 6.55E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| D/N | rs778955269 |
0.344 | 0.999 | None | 0.706 | 0.373 | 0.323342291347 | gnomAD-4.0.0 | 6.2033E-06 | None | None | None | None | I | None | 0 | 1.668E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 9.90099E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.439 | ambiguous | 0.3225 | benign | -0.082 | Destabilizing | 0.999 | D | 0.642 | neutral | None | None | None | None | I |
| D/C | 0.8958 | likely_pathogenic | 0.8319 | pathogenic | -0.142 | Destabilizing | 1.0 | D | 0.755 | deleterious | None | None | None | None | I |
| D/E | 0.3802 | ambiguous | 0.2781 | benign | -0.1 | Destabilizing | 0.767 | D | 0.394 | neutral | None | None | None | None | I |
| D/F | 0.7311 | likely_pathogenic | 0.6278 | pathogenic | -0.099 | Destabilizing | 1.0 | D | 0.727 | prob.delet. | None | None | None | None | I |
| D/G | 0.6722 | likely_pathogenic | 0.508 | ambiguous | -0.233 | Destabilizing | 0.998 | D | 0.671 | neutral | None | None | None | None | I |
| D/H | 0.4524 | ambiguous | 0.3405 | ambiguous | 0.372 | Stabilizing | 1.0 | D | 0.695 | prob.neutral | None | None | None | None | I |
| D/I | 0.5546 | ambiguous | 0.4357 | ambiguous | 0.258 | Stabilizing | 1.0 | D | 0.732 | prob.delet. | None | None | None | None | I |
| D/K | 0.5751 | likely_pathogenic | 0.4576 | ambiguous | 0.234 | Stabilizing | 0.999 | D | 0.659 | neutral | None | None | None | None | I |
| D/L | 0.6287 | likely_pathogenic | 0.5054 | ambiguous | 0.258 | Stabilizing | 1.0 | D | 0.702 | prob.neutral | None | None | None | None | I |
| D/M | 0.8433 | likely_pathogenic | 0.7567 | pathogenic | 0.097 | Stabilizing | 1.0 | D | 0.738 | prob.delet. | None | None | None | None | I |
| D/N | 0.1472 | likely_benign | 0.1229 | benign | 0.135 | Stabilizing | 0.999 | D | 0.706 | prob.neutral | None | None | None | None | I |
| D/P | 0.956 | likely_pathogenic | 0.9192 | pathogenic | 0.165 | Stabilizing | 1.0 | D | 0.697 | prob.neutral | None | None | None | None | I |
| D/Q | 0.6289 | likely_pathogenic | 0.4676 | ambiguous | 0.149 | Stabilizing | 0.999 | D | 0.739 | prob.delet. | None | None | None | None | I |
| D/R | 0.6582 | likely_pathogenic | 0.528 | ambiguous | 0.515 | Stabilizing | 0.999 | D | 0.711 | prob.delet. | None | None | None | None | I |
| D/S | 0.24 | likely_benign | 0.1766 | benign | -0.043 | Destabilizing | 0.997 | D | 0.702 | prob.neutral | None | None | None | None | I |
| D/T | 0.4704 | ambiguous | 0.3528 | ambiguous | 0.073 | Stabilizing | 1.0 | D | 0.683 | prob.neutral | None | None | None | None | I |
| D/V | 0.3834 | ambiguous | 0.2804 | benign | 0.165 | Stabilizing | 0.999 | D | 0.703 | prob.neutral | None | None | None | None | I |
| D/W | 0.9576 | likely_pathogenic | 0.9299 | pathogenic | -0.034 | Destabilizing | 1.0 | D | 0.759 | deleterious | None | None | None | None | I |
| D/Y | 0.3281 | likely_benign | 0.2484 | benign | 0.124 | Stabilizing | 1.0 | D | 0.727 | prob.delet. | None | None | None | None | I |
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.