Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2254 | 6985;6986;6987 | chr2:178774951;178774950;178774949 | chr2:179639678;179639677;179639676 |
| N2AB | 2254 | 6985;6986;6987 | chr2:178774951;178774950;178774949 | chr2:179639678;179639677;179639676 |
| N2A | 2254 | 6985;6986;6987 | chr2:178774951;178774950;178774949 | chr2:179639678;179639677;179639676 |
| N2B | 2208 | 6847;6848;6849 | chr2:178774951;178774950;178774949 | chr2:179639678;179639677;179639676 |
| Novex-1 | 2208 | 6847;6848;6849 | chr2:178774951;178774950;178774949 | chr2:179639678;179639677;179639676 |
| Novex-2 | 2208 | 6847;6848;6849 | chr2:178774951;178774950;178774949 | chr2:179639678;179639677;179639676 |
| Novex-3 | 2254 | 6985;6986;6987 | chr2:178774951;178774950;178774949 | chr2:179639678;179639677;179639676 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/D | None | None | 0.667 | N | 0.662 | 0.286 | 0.824782275277 | gnomAD-4.0.0 | 1.59473E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 1.89451E-05 | 0 | 0 | 0 | 0 |
| V/I | rs1401971730  |
-0.178 | None | N | 0.119 | 0.137 | 0.110078149338 | gnomAD-2.1.1 | 3.99E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| V/I | rs1401971730 |
-0.178 | None | N | 0.119 | 0.137 | 0.110078149338 | gnomAD-4.0.0 | 1.3685E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 2.31889E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.1624 | likely_benign | 0.1671 | benign | -1.408 | Destabilizing | 0.104 | N | 0.439 | neutral | N | 0.484419953 | None | None | N |
| V/C | 0.5501 | ambiguous | 0.5531 | ambiguous | -0.733 | Destabilizing | 0.968 | D | 0.574 | neutral | None | None | None | None | N |
| V/D | 0.3347 | likely_benign | 0.3594 | ambiguous | -1.126 | Destabilizing | 0.667 | D | 0.662 | neutral | N | 0.512474571 | None | None | N |
| V/E | 0.2513 | likely_benign | 0.2672 | benign | -1.073 | Destabilizing | 0.726 | D | 0.603 | neutral | None | None | None | None | N |
| V/F | 0.1337 | likely_benign | 0.1441 | benign | -0.965 | Destabilizing | 0.497 | N | 0.588 | neutral | N | 0.51751047 | None | None | N |
| V/G | 0.2007 | likely_benign | 0.2079 | benign | -1.784 | Destabilizing | 0.667 | D | 0.619 | neutral | D | 0.577948299 | None | None | N |
| V/H | 0.3808 | ambiguous | 0.4012 | ambiguous | -1.411 | Destabilizing | 0.968 | D | 0.678 | prob.neutral | None | None | None | None | N |
| V/I | 0.0612 | likely_benign | 0.0624 | benign | -0.453 | Destabilizing | None | N | 0.119 | neutral | N | 0.501080816 | None | None | N |
| V/K | 0.2315 | likely_benign | 0.2467 | benign | -1.05 | Destabilizing | 0.726 | D | 0.613 | neutral | None | None | None | None | N |
| V/L | 0.1233 | likely_benign | 0.1315 | benign | -0.453 | Destabilizing | 0.009 | N | 0.39 | neutral | N | 0.513518936 | None | None | N |
| V/M | 0.099 | likely_benign | 0.102 | benign | -0.284 | Destabilizing | 0.567 | D | 0.546 | neutral | None | None | None | None | N |
| V/N | 0.194 | likely_benign | 0.2055 | benign | -0.893 | Destabilizing | 0.726 | D | 0.693 | prob.neutral | None | None | None | None | N |
| V/P | 0.7379 | likely_pathogenic | 0.7698 | pathogenic | -0.737 | Destabilizing | 0.89 | D | 0.67 | neutral | None | None | None | None | N |
| V/Q | 0.2268 | likely_benign | 0.2377 | benign | -0.968 | Destabilizing | 0.89 | D | 0.68 | prob.neutral | None | None | None | None | N |
| V/R | 0.197 | likely_benign | 0.2114 | benign | -0.677 | Destabilizing | 0.726 | D | 0.703 | prob.neutral | None | None | None | None | N |
| V/S | 0.1712 | likely_benign | 0.1767 | benign | -1.471 | Destabilizing | 0.157 | N | 0.575 | neutral | None | None | None | None | N |
| V/T | 0.1344 | likely_benign | 0.1381 | benign | -1.3 | Destabilizing | 0.005 | N | 0.293 | neutral | None | None | None | None | N |
| V/W | 0.6286 | likely_pathogenic | 0.6509 | pathogenic | -1.267 | Destabilizing | 0.968 | D | 0.733 | prob.delet. | None | None | None | None | N |
| V/Y | 0.3603 | ambiguous | 0.3831 | ambiguous | -0.915 | Destabilizing | 0.726 | D | 0.602 | neutral | 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.