Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 16147 | 48664;48665;48666 | chr2:178615662;178615661;178615660 | chr2:179480389;179480388;179480387 |
| N2AB | 14506 | 43741;43742;43743 | chr2:178615662;178615661;178615660 | chr2:179480389;179480388;179480387 |
| N2A | 13579 | 40960;40961;40962 | chr2:178615662;178615661;178615660 | chr2:179480389;179480388;179480387 |
| N2B | 7082 | 21469;21470;21471 | chr2:178615662;178615661;178615660 | chr2:179480389;179480388;179480387 |
| Novex-1 | 7207 | 21844;21845;21846 | chr2:178615662;178615661;178615660 | chr2:179480389;179480388;179480387 |
| Novex-2 | 7274 | 22045;22046;22047 | chr2:178615662;178615661;178615660 | chr2:179480389;179480388;179480387 |
| 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 | None | None | 0.058 | N | 0.286 | 0.038 | 0.31501682445 | gnomAD-4.0.0 | 6.84739E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.00071E-07 | 0 | 0 |
| V/L | rs768269007  |
0.055 | 0.802 | N | 0.577 | 0.092 | 0.266385636622 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.28E-05 | None | 0 | 0 | 0 |
| V/L | rs768269007 |
0.055 | 0.802 | N | 0.577 | 0.092 | 0.266385636622 | gnomAD-4.0.0 | 1.36948E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 2.32153E-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 | 0.3912 | ambiguous | 0.4481 | ambiguous | -1.805 | Destabilizing | 0.952 | D | 0.559 | neutral | D | 0.546936368 | None | None | N |
| V/C | 0.7503 | likely_pathogenic | 0.7805 | pathogenic | -1.207 | Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | N |
| V/D | 0.9258 | likely_pathogenic | 0.9411 | pathogenic | -2.447 | Highly Destabilizing | 0.998 | D | 0.883 | deleterious | None | None | None | None | N |
| V/E | 0.7708 | likely_pathogenic | 0.8063 | pathogenic | -2.205 | Highly Destabilizing | 0.998 | D | 0.885 | deleterious | D | 0.642735075 | None | None | N |
| V/F | 0.2682 | likely_benign | 0.3342 | benign | -1.155 | Destabilizing | 0.989 | D | 0.853 | deleterious | None | None | None | None | N |
| V/G | 0.6031 | likely_pathogenic | 0.6291 | pathogenic | -2.319 | Highly Destabilizing | 0.998 | D | 0.877 | deleterious | D | 0.643252585 | None | None | N |
| V/H | 0.8675 | likely_pathogenic | 0.9025 | pathogenic | -2.009 | Highly Destabilizing | 1.0 | D | 0.889 | deleterious | None | None | None | None | N |
| V/I | 0.0758 | likely_benign | 0.078 | benign | -0.359 | Destabilizing | 0.058 | N | 0.286 | neutral | N | 0.473605731 | None | None | N |
| V/K | 0.7349 | likely_pathogenic | 0.7819 | pathogenic | -1.418 | Destabilizing | 0.995 | D | 0.895 | deleterious | None | None | None | None | N |
| V/L | 0.2013 | likely_benign | 0.2403 | benign | -0.359 | Destabilizing | 0.802 | D | 0.577 | neutral | N | 0.489957602 | None | None | N |
| V/M | 0.1782 | likely_benign | 0.2212 | benign | -0.393 | Destabilizing | 0.989 | D | 0.737 | deleterious | None | None | None | None | N |
| V/N | 0.8174 | likely_pathogenic | 0.846 | pathogenic | -1.831 | Destabilizing | 0.998 | D | 0.894 | deleterious | None | None | None | None | N |
| V/P | 0.9518 | likely_pathogenic | 0.9429 | pathogenic | -0.817 | Destabilizing | 0.998 | D | 0.893 | deleterious | None | None | None | None | N |
| V/Q | 0.6932 | likely_pathogenic | 0.7384 | pathogenic | -1.638 | Destabilizing | 0.998 | D | 0.904 | deleterious | None | None | None | None | N |
| V/R | 0.6745 | likely_pathogenic | 0.7163 | pathogenic | -1.397 | Destabilizing | 0.998 | D | 0.888 | deleterious | None | None | None | None | N |
| V/S | 0.6615 | likely_pathogenic | 0.7097 | pathogenic | -2.394 | Highly Destabilizing | 0.995 | D | 0.883 | deleterious | None | None | None | None | N |
| V/T | 0.4822 | ambiguous | 0.5241 | ambiguous | -1.997 | Destabilizing | 0.963 | D | 0.646 | neutral | None | None | None | None | N |
| V/W | 0.8981 | likely_pathogenic | 0.9208 | pathogenic | -1.609 | Destabilizing | 1.0 | D | 0.871 | deleterious | None | None | None | None | N |
| V/Y | 0.7389 | likely_pathogenic | 0.7871 | pathogenic | -1.179 | Destabilizing | 0.998 | D | 0.841 | 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.