Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 14784 | 44575;44576;44577 | chr2:178629375;178629374;178629373 | chr2:179494102;179494101;179494100 |
| N2AB | 13143 | 39652;39653;39654 | chr2:178629375;178629374;178629373 | chr2:179494102;179494101;179494100 |
| N2A | 12216 | 36871;36872;36873 | chr2:178629375;178629374;178629373 | chr2:179494102;179494101;179494100 |
| N2B | 5719 | 17380;17381;17382 | chr2:178629375;178629374;178629373 | chr2:179494102;179494101;179494100 |
| Novex-1 | 5844 | 17755;17756;17757 | chr2:178629375;178629374;178629373 | chr2:179494102;179494101;179494100 |
| Novex-2 | 5911 | 17956;17957;17958 | chr2:178629375;178629374;178629373 | chr2:179494102;179494101;179494100 |
| 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/N | None | -0.436 | 0.88 | N | 0.581 | 0.174 | None | gnomAD-2.1.1 | 2.01E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 9.81E-05 | None | 0 | 1.78E-05 | 0 |
| D/N | None | -0.436 | 0.88 | N | 0.581 | 0.174 | None | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
| D/N | None | -0.436 | 0.88 | N | 0.581 | 0.174 | None | gnomAD-4.0.0 | 2.9142E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.64612E-05 | 4.39367E-05 | 0 |
| D/Y | rs72677216  |
0.459 | 0.921 | D | 0.718 | 0.418 | 0.700597166766 | gnomAD-2.1.1 | 8.05E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.78E-05 | 0 |
| D/Y | rs72677216 |
0.459 | 0.921 | D | 0.718 | 0.418 | 0.700597166766 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 4.41E-05 | 0 | 0 |
| D/Y | rs72677216 |
0.459 | 0.921 | D | 0.718 | 0.418 | 0.700597166766 | gnomAD-4.0.0 | 9.30066E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.10232E-05 | 0 | 3.20472E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.2747 | likely_benign | 0.3158 | benign | -0.433 | Destabilizing | 0.722 | D | 0.62 | neutral | N | 0.510099179 | None | None | N |
| D/C | 0.7845 | likely_pathogenic | 0.8099 | pathogenic | -0.22 | Destabilizing | 0.996 | D | 0.695 | prob.neutral | None | None | None | None | N |
| D/E | 0.2208 | likely_benign | 0.2389 | benign | -0.769 | Destabilizing | 0.003 | N | 0.227 | neutral | N | 0.400385532 | None | None | N |
| D/F | 0.732 | likely_pathogenic | 0.7397 | pathogenic | -0.125 | Destabilizing | 0.923 | D | 0.717 | prob.delet. | None | None | None | None | N |
| D/G | 0.393 | ambiguous | 0.4409 | ambiguous | -0.799 | Destabilizing | 0.722 | D | 0.593 | neutral | D | 0.536256031 | None | None | N |
| D/H | 0.391 | ambiguous | 0.3821 | ambiguous | -0.606 | Destabilizing | 0.099 | N | 0.5 | neutral | N | 0.51291992 | None | None | N |
| D/I | 0.44 | ambiguous | 0.4894 | ambiguous | 0.532 | Stabilizing | 0.961 | D | 0.721 | prob.delet. | None | None | None | None | N |
| D/K | 0.5923 | likely_pathogenic | 0.6469 | pathogenic | -0.503 | Destabilizing | 0.633 | D | 0.584 | neutral | None | None | None | None | N |
| D/L | 0.5275 | ambiguous | 0.5676 | pathogenic | 0.532 | Stabilizing | 0.923 | D | 0.684 | prob.neutral | None | None | None | None | N |
| D/M | 0.7794 | likely_pathogenic | 0.7946 | pathogenic | 0.962 | Stabilizing | 0.996 | D | 0.704 | prob.neutral | None | None | None | None | N |
| D/N | 0.1659 | likely_benign | 0.2007 | benign | -0.869 | Destabilizing | 0.88 | D | 0.581 | neutral | N | 0.508139942 | None | None | N |
| D/P | 0.9096 | likely_pathogenic | 0.9117 | pathogenic | 0.237 | Stabilizing | 0.961 | D | 0.678 | prob.neutral | None | None | None | None | N |
| D/Q | 0.4319 | ambiguous | 0.449 | ambiguous | -0.707 | Destabilizing | 0.237 | N | 0.372 | neutral | None | None | None | None | N |
| D/R | 0.5606 | ambiguous | 0.599 | pathogenic | -0.423 | Destabilizing | 0.923 | D | 0.665 | neutral | None | None | None | None | N |
| D/S | 0.1875 | likely_benign | 0.1949 | benign | -1.145 | Destabilizing | 0.775 | D | 0.509 | neutral | None | None | None | None | N |
| D/T | 0.3348 | likely_benign | 0.3365 | benign | -0.847 | Destabilizing | 0.923 | D | 0.643 | neutral | None | None | None | None | N |
| D/V | 0.2789 | likely_benign | 0.3259 | benign | 0.237 | Stabilizing | 0.949 | D | 0.703 | prob.neutral | N | 0.499348457 | None | None | N |
| D/W | 0.9342 | likely_pathogenic | 0.9311 | pathogenic | -0.032 | Destabilizing | 0.996 | D | 0.664 | neutral | None | None | None | None | N |
| D/Y | 0.3187 | likely_benign | 0.3604 | ambiguous | 0.088 | Stabilizing | 0.921 | D | 0.718 | prob.delet. | D | 0.578021121 | 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.