Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 19756 | 59491;59492;59493 | chr2:178592853;178592852;178592851 | chr2:179457580;179457579;179457578 |
| N2AB | 18115 | 54568;54569;54570 | chr2:178592853;178592852;178592851 | chr2:179457580;179457579;179457578 |
| N2A | 17188 | 51787;51788;51789 | chr2:178592853;178592852;178592851 | chr2:179457580;179457579;179457578 |
| N2B | 10691 | 32296;32297;32298 | chr2:178592853;178592852;178592851 | chr2:179457580;179457579;179457578 |
| Novex-1 | 10816 | 32671;32672;32673 | chr2:178592853;178592852;178592851 | chr2:179457580;179457579;179457578 |
| Novex-2 | 10883 | 32872;32873;32874 | chr2:178592853;178592852;178592851 | chr2:179457580;179457579;179457578 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/K | None | None | 0.997 | N | 0.667 | 0.501 | 0.409398589964 | gnomAD-4.0.0 | 1.59184E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85938E-06 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/A | 0.9617 | likely_pathogenic | 0.9231 | pathogenic | -1.668 | Destabilizing | 0.999 | D | 0.649 | neutral | None | None | None | None | N |
| R/C | 0.5142 | ambiguous | 0.3698 | ambiguous | -1.633 | Destabilizing | 1.0 | D | 0.779 | deleterious | None | None | None | None | N |
| R/D | 0.995 | likely_pathogenic | 0.9918 | pathogenic | -1.13 | Destabilizing | 1.0 | D | 0.776 | deleterious | None | None | None | None | N |
| R/E | 0.9443 | likely_pathogenic | 0.9011 | pathogenic | -0.908 | Destabilizing | 0.999 | D | 0.707 | prob.neutral | None | None | None | None | N |
| R/F | 0.9831 | likely_pathogenic | 0.9685 | pathogenic | -0.651 | Destabilizing | 1.0 | D | 0.814 | deleterious | None | None | None | None | N |
| R/G | 0.9604 | likely_pathogenic | 0.9271 | pathogenic | -2.015 | Highly Destabilizing | 1.0 | D | 0.736 | prob.delet. | D | 0.553984157 | None | None | N |
| R/H | 0.3808 | ambiguous | 0.3286 | benign | -1.78 | Destabilizing | 1.0 | D | 0.798 | deleterious | None | None | None | None | N |
| R/I | 0.9118 | likely_pathogenic | 0.8197 | pathogenic | -0.656 | Destabilizing | 1.0 | D | 0.81 | deleterious | N | 0.52189025 | None | None | N |
| R/K | 0.4865 | ambiguous | 0.3743 | ambiguous | -1.179 | Destabilizing | 0.997 | D | 0.667 | neutral | N | 0.49819968 | None | None | N |
| R/L | 0.8834 | likely_pathogenic | 0.7979 | pathogenic | -0.656 | Destabilizing | 1.0 | D | 0.736 | prob.delet. | None | None | None | None | N |
| R/M | 0.9285 | likely_pathogenic | 0.8457 | pathogenic | -1.18 | Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | N |
| R/N | 0.9772 | likely_pathogenic | 0.9645 | pathogenic | -1.431 | Destabilizing | 1.0 | D | 0.779 | deleterious | None | None | None | None | N |
| R/P | 0.9989 | likely_pathogenic | 0.9983 | pathogenic | -0.983 | Destabilizing | 1.0 | D | 0.787 | deleterious | None | None | None | None | N |
| R/Q | 0.3643 | ambiguous | 0.2489 | benign | -1.125 | Destabilizing | 1.0 | D | 0.783 | deleterious | None | None | None | None | N |
| R/S | 0.9628 | likely_pathogenic | 0.9349 | pathogenic | -2.112 | Highly Destabilizing | 1.0 | D | 0.74 | deleterious | N | 0.514480283 | None | None | N |
| R/T | 0.9437 | likely_pathogenic | 0.8753 | pathogenic | -1.687 | Destabilizing | 1.0 | D | 0.74 | deleterious | N | 0.498453169 | None | None | N |
| R/V | 0.9223 | likely_pathogenic | 0.8391 | pathogenic | -0.983 | Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | N |
| R/W | 0.766 | likely_pathogenic | 0.6613 | pathogenic | -0.332 | Destabilizing | 1.0 | D | 0.743 | deleterious | None | None | None | None | N |
| R/Y | 0.9407 | likely_pathogenic | 0.9047 | pathogenic | -0.197 | Destabilizing | 1.0 | D | 0.809 | deleterious | 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.