Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 23819 | 71680;71681;71682 | chr2:178574677;178574676;178574675 | chr2:179439404;179439403;179439402 |
| N2AB | 22178 | 66757;66758;66759 | chr2:178574677;178574676;178574675 | chr2:179439404;179439403;179439402 |
| N2A | 21251 | 63976;63977;63978 | chr2:178574677;178574676;178574675 | chr2:179439404;179439403;179439402 |
| N2B | 14754 | 44485;44486;44487 | chr2:178574677;178574676;178574675 | chr2:179439404;179439403;179439402 |
| Novex-1 | 14879 | 44860;44861;44862 | chr2:178574677;178574676;178574675 | chr2:179439404;179439403;179439402 |
| Novex-2 | 14946 | 45061;45062;45063 | chr2:178574677;178574676;178574675 | chr2:179439404;179439403;179439402 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/I | rs1709440654  |
None | 0.004 | N | 0.187 | 0.049 | 0.267755039894 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/I | rs1709440654 |
None | 0.004 | N | 0.187 | 0.049 | 0.267755039894 | gnomAD-4.0.0 | 2.56401E-06 | None | None | None | None | N | None | 1.69182E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 2.84576E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.1785 | likely_benign | 0.174 | benign | -1.024 | Destabilizing | 0.546 | D | 0.517 | neutral | N | 0.496582475 | None | None | N |
| V/C | 0.7123 | likely_pathogenic | 0.6916 | pathogenic | -0.876 | Destabilizing | 0.992 | D | 0.709 | prob.delet. | None | None | None | None | N |
| V/D | 0.5567 | ambiguous | 0.5716 | pathogenic | -0.576 | Destabilizing | 0.963 | D | 0.803 | deleterious | N | 0.497342944 | None | None | N |
| V/E | 0.3436 | ambiguous | 0.3552 | ambiguous | -0.621 | Destabilizing | 0.972 | D | 0.774 | deleterious | None | None | None | None | N |
| V/F | 0.2041 | likely_benign | 0.1975 | benign | -0.865 | Destabilizing | 0.009 | N | 0.49 | neutral | N | 0.497089454 | None | None | N |
| V/G | 0.375 | ambiguous | 0.3552 | ambiguous | -1.276 | Destabilizing | 0.895 | D | 0.771 | deleterious | N | 0.498103412 | None | None | N |
| V/H | 0.539 | ambiguous | 0.5416 | ambiguous | -0.704 | Destabilizing | 0.992 | D | 0.827 | deleterious | None | None | None | None | N |
| V/I | 0.0712 | likely_benign | 0.0675 | benign | -0.468 | Destabilizing | 0.004 | N | 0.187 | neutral | N | 0.502295841 | None | None | N |
| V/K | 0.2944 | likely_benign | 0.3022 | benign | -0.834 | Destabilizing | 0.919 | D | 0.735 | deleterious | None | None | None | None | N |
| V/L | 0.1453 | likely_benign | 0.1452 | benign | -0.468 | Destabilizing | 0.004 | N | 0.27 | neutral | N | 0.485787593 | None | None | N |
| V/M | 0.1185 | likely_benign | 0.1129 | benign | -0.44 | Destabilizing | 0.848 | D | 0.61 | neutral | None | None | None | None | N |
| V/N | 0.3492 | ambiguous | 0.3474 | ambiguous | -0.636 | Destabilizing | 0.972 | D | 0.829 | deleterious | None | None | None | None | N |
| V/P | 0.5636 | ambiguous | 0.5748 | pathogenic | -0.617 | Destabilizing | 0.972 | D | 0.78 | deleterious | None | None | None | None | N |
| V/Q | 0.2956 | likely_benign | 0.2981 | benign | -0.829 | Destabilizing | 0.972 | D | 0.793 | deleterious | None | None | None | None | N |
| V/R | 0.275 | likely_benign | 0.2803 | benign | -0.294 | Destabilizing | 0.972 | D | 0.828 | deleterious | None | None | None | None | N |
| V/S | 0.2583 | likely_benign | 0.2554 | benign | -1.148 | Destabilizing | 0.919 | D | 0.663 | prob.neutral | None | None | None | None | N |
| V/T | 0.1104 | likely_benign | 0.1121 | benign | -1.078 | Destabilizing | 0.615 | D | 0.593 | neutral | None | None | None | None | N |
| V/W | 0.8197 | likely_pathogenic | 0.8067 | pathogenic | -0.969 | Destabilizing | 0.992 | D | 0.843 | deleterious | None | None | None | None | N |
| V/Y | 0.5561 | ambiguous | 0.5457 | ambiguous | -0.679 | Destabilizing | 0.737 | D | 0.7 | prob.delet. | 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.