Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 20484 | 61675;61676;61677 | chr2:178590275;178590274;178590273 | chr2:179455002;179455001;179455000 |
| N2AB | 18843 | 56752;56753;56754 | chr2:178590275;178590274;178590273 | chr2:179455002;179455001;179455000 |
| N2A | 17916 | 53971;53972;53973 | chr2:178590275;178590274;178590273 | chr2:179455002;179455001;179455000 |
| N2B | 11419 | 34480;34481;34482 | chr2:178590275;178590274;178590273 | chr2:179455002;179455001;179455000 |
| Novex-1 | 11544 | 34855;34856;34857 | chr2:178590275;178590274;178590273 | chr2:179455002;179455001;179455000 |
| Novex-2 | 11611 | 35056;35057;35058 | chr2:178590275;178590274;178590273 | chr2:179455002;179455001;179455000 |
| 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/H | None | None | 0.994 | N | 0.614 | 0.347 | 0.339074221408 | gnomAD-4.0.0 | 1.40687E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.83073E-06 | 0 | 0 |
| D/Y | None | None | 0.998 | N | 0.694 | 0.404 | 0.711079051923 | gnomAD-4.0.0 | 7.03433E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.15364E-07 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.6037 | likely_pathogenic | 0.6614 | pathogenic | 0.005 | Stabilizing | 0.961 | D | 0.559 | neutral | N | 0.476454113 | None | None | N |
| D/C | 0.9517 | likely_pathogenic | 0.9638 | pathogenic | -0.071 | Destabilizing | 1.0 | D | 0.721 | prob.delet. | None | None | None | None | N |
| D/E | 0.2669 | likely_benign | 0.3308 | benign | -0.321 | Destabilizing | 0.122 | N | 0.197 | neutral | N | 0.39751054 | None | None | N |
| D/F | 0.9615 | likely_pathogenic | 0.9668 | pathogenic | -0.01 | Destabilizing | 0.999 | D | 0.691 | prob.neutral | None | None | None | None | N |
| D/G | 0.4683 | ambiguous | 0.5133 | ambiguous | -0.13 | Destabilizing | 0.961 | D | 0.549 | neutral | N | 0.476974188 | None | None | N |
| D/H | 0.7872 | likely_pathogenic | 0.785 | pathogenic | 0.492 | Stabilizing | 0.994 | D | 0.614 | neutral | N | 0.482169364 | None | None | N |
| D/I | 0.9267 | likely_pathogenic | 0.9415 | pathogenic | 0.294 | Stabilizing | 0.999 | D | 0.681 | prob.neutral | None | None | None | None | N |
| D/K | 0.8424 | likely_pathogenic | 0.8591 | pathogenic | 0.531 | Stabilizing | 0.97 | D | 0.529 | neutral | None | None | None | None | N |
| D/L | 0.8902 | likely_pathogenic | 0.9038 | pathogenic | 0.294 | Stabilizing | 0.996 | D | 0.67 | neutral | None | None | None | None | N |
| D/M | 0.9424 | likely_pathogenic | 0.9532 | pathogenic | 0.134 | Stabilizing | 1.0 | D | 0.694 | prob.neutral | None | None | None | None | N |
| D/N | 0.2776 | likely_benign | 0.3195 | benign | 0.177 | Stabilizing | 0.248 | N | 0.283 | neutral | N | 0.459945865 | None | None | N |
| D/P | 0.9567 | likely_pathogenic | 0.9582 | pathogenic | 0.218 | Stabilizing | 0.999 | D | 0.603 | neutral | None | None | None | None | N |
| D/Q | 0.7581 | likely_pathogenic | 0.7784 | pathogenic | 0.195 | Stabilizing | 0.991 | D | 0.531 | neutral | None | None | None | None | N |
| D/R | 0.8764 | likely_pathogenic | 0.8797 | pathogenic | 0.731 | Stabilizing | 0.991 | D | 0.631 | neutral | None | None | None | None | N |
| D/S | 0.4256 | ambiguous | 0.4749 | ambiguous | 0.123 | Stabilizing | 0.97 | D | 0.566 | neutral | None | None | None | None | N |
| D/T | 0.67 | likely_pathogenic | 0.7276 | pathogenic | 0.237 | Stabilizing | 0.97 | D | 0.541 | neutral | None | None | None | None | N |
| D/V | 0.793 | likely_pathogenic | 0.8272 | pathogenic | 0.218 | Stabilizing | 0.994 | D | 0.663 | neutral | N | 0.491866283 | None | None | N |
| D/W | 0.9853 | likely_pathogenic | 0.985 | pathogenic | 0.061 | Stabilizing | 1.0 | D | 0.711 | prob.delet. | None | None | None | None | N |
| D/Y | 0.7645 | likely_pathogenic | 0.7746 | pathogenic | 0.225 | Stabilizing | 0.998 | D | 0.694 | prob.neutral | N | 0.514935143 | 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.