Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 30984 | 93175;93176;93177 | chr2:178548676;178548675;178548674 | chr2:179413403;179413402;179413401 |
| N2AB | 29343 | 88252;88253;88254 | chr2:178548676;178548675;178548674 | chr2:179413403;179413402;179413401 |
| N2A | 28416 | 85471;85472;85473 | chr2:178548676;178548675;178548674 | chr2:179413403;179413402;179413401 |
| N2B | 21919 | 65980;65981;65982 | chr2:178548676;178548675;178548674 | chr2:179413403;179413402;179413401 |
| Novex-1 | 22044 | 66355;66356;66357 | chr2:178548676;178548675;178548674 | chr2:179413403;179413402;179413401 |
| Novex-2 | 22111 | 66556;66557;66558 | chr2:178548676;178548675;178548674 | chr2:179413403;179413402;179413401 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/G | rs770525487  |
-0.091 | 1.0 | N | 0.625 | 0.489 | 0.673135118597 | gnomAD-2.1.1 | 2.41E-05 | None | None | None | None | I | None | 0 | 1.73802E-04 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| E/G | rs770525487 |
-0.091 | 1.0 | N | 0.625 | 0.489 | 0.673135118597 | 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 |
| E/G | rs770525487 |
-0.091 | 1.0 | N | 0.625 | 0.489 | 0.673135118597 | gnomAD-4.0.0 | 7.68584E-06 | None | None | None | None | I | None | 0 | 1.01685E-04 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| E/K | rs775878805 |
0.953 | 0.999 | N | 0.668 | 0.458 | 0.549545986626 | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 9.8E-05 | None | 0 | 0 | 0 |
| E/K | rs775878805 |
0.953 | 0.999 | N | 0.668 | 0.458 | 0.549545986626 | gnomAD-4.0.0 | 7.95573E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 7.16394E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/A | 0.2014 | likely_benign | 0.2112 | benign | -0.354 | Destabilizing | 0.999 | D | 0.67 | neutral | N | 0.456329557 | None | None | I |
| E/C | 0.8739 | likely_pathogenic | 0.8815 | pathogenic | 0.263 | Stabilizing | 1.0 | D | 0.678 | prob.neutral | None | None | None | None | I |
| E/D | 0.1155 | likely_benign | 0.1307 | benign | -0.216 | Destabilizing | 0.999 | D | 0.532 | neutral | N | 0.428238878 | None | None | I |
| E/F | 0.8452 | likely_pathogenic | 0.8632 | pathogenic | -0.48 | Destabilizing | 1.0 | D | 0.657 | neutral | None | None | None | None | I |
| E/G | 0.184 | likely_benign | 0.1818 | benign | -0.52 | Destabilizing | 1.0 | D | 0.625 | neutral | N | 0.50827853 | None | None | I |
| E/H | 0.5664 | likely_pathogenic | 0.5894 | pathogenic | -0.403 | Destabilizing | 1.0 | D | 0.614 | neutral | None | None | None | None | I |
| E/I | 0.539 | ambiguous | 0.5509 | ambiguous | 0.04 | Stabilizing | 1.0 | D | 0.676 | prob.neutral | None | None | None | None | I |
| E/K | 0.2213 | likely_benign | 0.2257 | benign | 0.542 | Stabilizing | 0.999 | D | 0.668 | neutral | N | 0.451422382 | None | None | I |
| E/L | 0.521 | ambiguous | 0.5346 | ambiguous | 0.04 | Stabilizing | 1.0 | D | 0.689 | prob.neutral | None | None | None | None | I |
| E/M | 0.5984 | likely_pathogenic | 0.6075 | pathogenic | 0.315 | Stabilizing | 1.0 | D | 0.626 | neutral | None | None | None | None | I |
| E/N | 0.2785 | likely_benign | 0.3117 | benign | 0.332 | Stabilizing | 1.0 | D | 0.681 | prob.neutral | None | None | None | None | I |
| E/P | 0.4437 | ambiguous | 0.4752 | ambiguous | -0.072 | Destabilizing | 1.0 | D | 0.662 | neutral | None | None | None | None | I |
| E/Q | 0.1807 | likely_benign | 0.1802 | benign | 0.334 | Stabilizing | 1.0 | D | 0.595 | neutral | N | 0.462658096 | None | None | I |
| E/R | 0.3438 | ambiguous | 0.3461 | ambiguous | 0.547 | Stabilizing | 1.0 | D | 0.675 | neutral | None | None | None | None | I |
| E/S | 0.2391 | likely_benign | 0.2541 | benign | 0.172 | Stabilizing | 0.999 | D | 0.65 | neutral | None | None | None | None | I |
| E/T | 0.2939 | likely_benign | 0.306 | benign | 0.31 | Stabilizing | 1.0 | D | 0.677 | prob.neutral | None | None | None | None | I |
| E/V | 0.3342 | likely_benign | 0.3355 | benign | -0.072 | Destabilizing | 1.0 | D | 0.679 | prob.neutral | N | 0.489692769 | None | None | I |
| E/W | 0.9225 | likely_pathogenic | 0.9305 | pathogenic | -0.397 | Destabilizing | 1.0 | D | 0.679 | prob.neutral | None | None | None | None | I |
| E/Y | 0.7265 | likely_pathogenic | 0.7475 | pathogenic | -0.244 | Destabilizing | 1.0 | D | 0.639 | neutral | 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.