Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 26942 | 81049;81050;81051 | chr2:178565308;178565307;178565306 | chr2:179430035;179430034;179430033 |
| N2AB | 25301 | 76126;76127;76128 | chr2:178565308;178565307;178565306 | chr2:179430035;179430034;179430033 |
| N2A | 24374 | 73345;73346;73347 | chr2:178565308;178565307;178565306 | chr2:179430035;179430034;179430033 |
| N2B | 17877 | 53854;53855;53856 | chr2:178565308;178565307;178565306 | chr2:179430035;179430034;179430033 |
| Novex-1 | 18002 | 54229;54230;54231 | chr2:178565308;178565307;178565306 | chr2:179430035;179430034;179430033 |
| Novex-2 | 18069 | 54430;54431;54432 | chr2:178565308;178565307;178565306 | chr2:179430035;179430034;179430033 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | rs754062150  |
-0.721 | None | N | 0.188 | 0.118 | 0.0884992946249 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.91E-06 | 0 |
| G/A | rs754062150 |
-0.721 | None | N | 0.188 | 0.118 | 0.0884992946249 | gnomAD-4.0.0 | 6.84265E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99539E-07 | 0 | 0 |
| G/V | rs754062150 |
-0.248 | 0.024 | N | 0.561 | 0.146 | 0.335661160332 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.91E-06 | 0 |
| G/V | rs754062150 |
-0.248 | 0.024 | N | 0.561 | 0.146 | 0.335661160332 | gnomAD-4.0.0 | 6.84265E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99539E-07 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.0686 | likely_benign | 0.0608 | benign | -0.833 | Destabilizing | None | N | 0.188 | neutral | N | 0.289185422 | None | None | N |
| G/C | 0.168 | likely_benign | 0.1356 | benign | -1.441 | Destabilizing | None | N | 0.542 | neutral | N | 0.423851779 | None | None | N |
| G/D | 0.9296 | likely_pathogenic | 0.9063 | pathogenic | -2.594 | Highly Destabilizing | 0.029 | N | 0.542 | neutral | N | 0.503485999 | None | None | N |
| G/E | 0.9232 | likely_pathogenic | 0.9091 | pathogenic | -2.608 | Highly Destabilizing | 0.038 | N | 0.569 | neutral | None | None | None | None | N |
| G/F | 0.9361 | likely_pathogenic | 0.9019 | pathogenic | -1.191 | Destabilizing | 0.356 | N | 0.695 | prob.neutral | None | None | None | None | N |
| G/H | 0.9588 | likely_pathogenic | 0.9421 | pathogenic | -1.353 | Destabilizing | 0.356 | N | 0.653 | neutral | None | None | None | None | N |
| G/I | 0.3889 | ambiguous | 0.3274 | benign | -0.389 | Destabilizing | 0.072 | N | 0.663 | neutral | None | None | None | None | N |
| G/K | 0.9836 | likely_pathogenic | 0.9803 | pathogenic | -1.417 | Destabilizing | 0.038 | N | 0.567 | neutral | None | None | None | None | N |
| G/L | 0.6535 | likely_pathogenic | 0.5532 | ambiguous | -0.389 | Destabilizing | 0.016 | N | 0.555 | neutral | None | None | None | None | N |
| G/M | 0.6671 | likely_pathogenic | 0.5807 | pathogenic | -0.412 | Destabilizing | 0.628 | D | 0.667 | neutral | None | None | None | None | N |
| G/N | 0.8009 | likely_pathogenic | 0.7297 | pathogenic | -1.437 | Destabilizing | 0.038 | N | 0.483 | neutral | None | None | None | None | N |
| G/P | 0.9671 | likely_pathogenic | 0.936 | pathogenic | -0.5 | Destabilizing | 0.072 | N | 0.639 | neutral | None | None | None | None | N |
| G/Q | 0.9441 | likely_pathogenic | 0.9268 | pathogenic | -1.644 | Destabilizing | 0.072 | N | 0.675 | prob.neutral | None | None | None | None | N |
| G/R | 0.9648 | likely_pathogenic | 0.9592 | pathogenic | -1.075 | Destabilizing | 0.055 | N | 0.639 | neutral | N | 0.473683167 | None | None | N |
| G/S | 0.0929 | likely_benign | 0.0799 | benign | -1.573 | Destabilizing | None | N | 0.188 | neutral | N | 0.384813388 | None | None | N |
| G/T | 0.1394 | likely_benign | 0.1162 | benign | -1.526 | Destabilizing | 0.016 | N | 0.511 | neutral | None | None | None | None | N |
| G/V | 0.228 | likely_benign | 0.1869 | benign | -0.5 | Destabilizing | 0.024 | N | 0.561 | neutral | N | 0.312155495 | None | None | N |
| G/W | 0.9352 | likely_pathogenic | 0.913 | pathogenic | -1.629 | Destabilizing | 0.864 | D | 0.622 | neutral | None | None | None | None | N |
| G/Y | 0.9265 | likely_pathogenic | 0.8897 | pathogenic | -1.194 | Destabilizing | 0.356 | N | 0.682 | prob.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.