Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3476 | 10651;10652;10653 | chr2:178757794;178757793;178757792 | chr2:179622521;179622520;179622519 |
| N2AB | None | None | chr2:None | chr2:None |
| N2A | None | None | chr2:None | chr2:None |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | 3430 | 10513;10514;10515 | chr2:178757794;178757793;178757792 | chr2:179622521;179622520;179622519 |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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/G | None | None | None | None | None | 0.495 | None | gnomAD-4.0.0 | 1.59243E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86072E-06 | 0 | 0 |
| V/M | rs774551356  |
-0.656 | None | None | None | 0.344 | None | gnomAD-2.1.1 | 7.15E-06 | None | None | None | None | N | None | 8.27E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| V/M | rs774551356 |
-0.656 | None | None | None | 0.344 | None | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 7.24E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/M | rs774551356 |
-0.656 | None | None | None | 0.344 | None | gnomAD-4.0.0 | 1.97011E-05 | None | None | None | None | N | None | 7.22091E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.5204 | ambiguous | None | None | -1.783 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/C | 0.8925 | likely_pathogenic | None | None | -1.07 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/D | 0.9278 | likely_pathogenic | None | None | -1.919 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/E | 0.8313 | likely_pathogenic | None | None | -1.869 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/F | 0.5537 | ambiguous | None | None | -1.294 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/G | 0.5445 | ambiguous | None | None | -2.166 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| V/H | 0.9526 | likely_pathogenic | None | None | -1.824 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/I | 0.1494 | likely_benign | None | None | -0.794 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/K | 0.8226 | likely_pathogenic | None | None | -1.512 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/L | 0.6271 | likely_pathogenic | None | None | -0.794 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/M | 0.5095 | ambiguous | None | None | -0.52 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/N | 0.8669 | likely_pathogenic | None | None | -1.35 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/P | 0.9753 | likely_pathogenic | None | None | -1.091 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/Q | 0.8112 | likely_pathogenic | None | None | -1.461 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/R | 0.7757 | likely_pathogenic | None | None | -1.036 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/S | 0.6935 | likely_pathogenic | None | None | -1.875 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/T | 0.5745 | likely_pathogenic | None | None | -1.715 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/W | 0.9859 | likely_pathogenic | None | None | -1.614 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/Y | 0.9298 | likely_pathogenic | None | None | -1.313 | Destabilizing | None | None | None | None | 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.