Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 27294 | 82105;82106;82107 | chr2:178564252;178564251;178564250 | chr2:179428979;179428978;179428977 |
| N2AB | 25653 | 77182;77183;77184 | chr2:178564252;178564251;178564250 | chr2:179428979;179428978;179428977 |
| N2A | 24726 | 74401;74402;74403 | chr2:178564252;178564251;178564250 | chr2:179428979;179428978;179428977 |
| N2B | 18229 | 54910;54911;54912 | chr2:178564252;178564251;178564250 | chr2:179428979;179428978;179428977 |
| Novex-1 | 18354 | 55285;55286;55287 | chr2:178564252;178564251;178564250 | chr2:179428979;179428978;179428977 |
| Novex-2 | 18421 | 55486;55487;55488 | chr2:178564252;178564251;178564250 | chr2:179428979;179428978;179428977 |
| 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/A | None | None | 0.704 | N | 0.435 | 0.128 | 0.387202362727 | gnomAD-4.0.0 | 1.59253E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85822E-06 | 0 | 0 |
| V/G | rs876658084  |
None | 0.92 | N | 0.546 | 0.278 | 0.590137622951 | gnomAD-4.0.0 | 1.59253E-06 | None | None | None | None | N | None | 0 | 2.28666E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/I | None | None | 0.061 | N | 0.178 | 0.132 | 0.330331372229 | gnomAD-4.0.0 | 1.36892E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99468E-07 | 1.15931E-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 | 0.1174 | likely_benign | 0.1088 | benign | -1.272 | Destabilizing | 0.704 | D | 0.435 | neutral | N | 0.492977351 | None | None | N |
| V/C | 0.4385 | ambiguous | 0.4519 | ambiguous | -0.872 | Destabilizing | 0.999 | D | 0.53 | neutral | None | None | None | None | N |
| V/D | 0.3006 | likely_benign | 0.2769 | benign | -1.051 | Destabilizing | 0.852 | D | 0.553 | neutral | N | 0.498711244 | None | None | N |
| V/E | 0.2082 | likely_benign | 0.2001 | benign | -0.975 | Destabilizing | 0.17 | N | 0.397 | neutral | None | None | None | None | N |
| V/F | 0.1267 | likely_benign | 0.1191 | benign | -0.749 | Destabilizing | 0.988 | D | 0.565 | neutral | N | 0.514430058 | None | None | N |
| V/G | 0.1801 | likely_benign | 0.1778 | benign | -1.647 | Destabilizing | 0.92 | D | 0.546 | neutral | N | 0.478862478 | None | None | N |
| V/H | 0.2924 | likely_benign | 0.2912 | benign | -1.068 | Destabilizing | 0.999 | D | 0.578 | neutral | None | None | None | None | N |
| V/I | 0.0687 | likely_benign | 0.067 | benign | -0.317 | Destabilizing | 0.061 | N | 0.178 | neutral | N | 0.453592243 | None | None | N |
| V/K | 0.2011 | likely_benign | 0.2075 | benign | -1.084 | Destabilizing | 0.939 | D | 0.543 | neutral | None | None | None | None | N |
| V/L | 0.1075 | likely_benign | 0.1121 | benign | -0.317 | Destabilizing | 0.704 | D | 0.406 | neutral | N | 0.47335144 | None | None | N |
| V/M | 0.0998 | likely_benign | 0.0985 | benign | -0.348 | Destabilizing | 0.991 | D | 0.532 | neutral | None | None | None | None | N |
| V/N | 0.1825 | likely_benign | 0.1668 | benign | -1.091 | Destabilizing | 0.982 | D | 0.6 | neutral | None | None | None | None | N |
| V/P | 0.6811 | likely_pathogenic | 0.667 | pathogenic | -0.601 | Destabilizing | 0.991 | D | 0.591 | neutral | None | None | None | None | N |
| V/Q | 0.1756 | likely_benign | 0.18 | benign | -1.119 | Destabilizing | 0.982 | D | 0.591 | neutral | None | None | None | None | N |
| V/R | 0.1659 | likely_benign | 0.1757 | benign | -0.694 | Destabilizing | 0.982 | D | 0.608 | neutral | None | None | None | None | N |
| V/S | 0.1218 | likely_benign | 0.1134 | benign | -1.659 | Destabilizing | 0.373 | N | 0.393 | neutral | None | None | None | None | N |
| V/T | 0.1082 | likely_benign | 0.0992 | benign | -1.454 | Destabilizing | 0.884 | D | 0.485 | neutral | None | None | None | None | N |
| V/W | 0.617 | likely_pathogenic | 0.6129 | pathogenic | -1.026 | Destabilizing | 0.999 | D | 0.599 | neutral | None | None | None | None | N |
| V/Y | 0.3185 | likely_benign | 0.3258 | benign | -0.668 | Destabilizing | 0.997 | D | 0.561 | 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.