Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 23500 | 70723;70724;70725 | chr2:178575634;178575633;178575632 | chr2:179440361;179440360;179440359 |
| N2AB | 21859 | 65800;65801;65802 | chr2:178575634;178575633;178575632 | chr2:179440361;179440360;179440359 |
| N2A | 20932 | 63019;63020;63021 | chr2:178575634;178575633;178575632 | chr2:179440361;179440360;179440359 |
| N2B | 14435 | 43528;43529;43530 | chr2:178575634;178575633;178575632 | chr2:179440361;179440360;179440359 |
| Novex-1 | 14560 | 43903;43904;43905 | chr2:178575634;178575633;178575632 | chr2:179440361;179440360;179440359 |
| Novex-2 | 14627 | 44104;44105;44106 | chr2:178575634;178575633;178575632 | chr2:179440361;179440360;179440359 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/C | rs774745687  |
None | 0.78 | N | 0.351 | 0.208 | 0.341696514166 | gnomAD-4.0.0 | 3.1837E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.7186E-06 | 0 | 0 |
| S/T | None | None | None | N | 0.065 | 0.068 | 0.0297737177859 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.66327E-05 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.0655 | likely_benign | 0.0648 | benign | -0.577 | Destabilizing | None | N | 0.069 | neutral | N | 0.458739852 | None | None | N |
| S/C | 0.1026 | likely_benign | 0.0994 | benign | -0.347 | Destabilizing | 0.78 | D | 0.351 | neutral | N | 0.475480173 | None | None | N |
| S/D | 0.3995 | ambiguous | 0.3797 | ambiguous | 0.212 | Stabilizing | 0.035 | N | 0.227 | neutral | None | None | None | None | N |
| S/E | 0.4067 | ambiguous | 0.3988 | ambiguous | 0.148 | Stabilizing | 0.001 | N | 0.07 | neutral | None | None | None | None | N |
| S/F | 0.1852 | likely_benign | 0.1841 | benign | -1.046 | Destabilizing | 0.484 | N | 0.405 | neutral | N | 0.458510565 | None | None | N |
| S/G | 0.0863 | likely_benign | 0.0858 | benign | -0.736 | Destabilizing | 0.035 | N | 0.249 | neutral | None | None | None | None | N |
| S/H | 0.3049 | likely_benign | 0.2891 | benign | -1.152 | Destabilizing | 0.791 | D | 0.362 | neutral | None | None | None | None | N |
| S/I | 0.1121 | likely_benign | 0.1068 | benign | -0.282 | Destabilizing | 0.235 | N | 0.39 | neutral | None | None | None | None | N |
| S/K | 0.5179 | ambiguous | 0.5046 | ambiguous | -0.509 | Destabilizing | 0.149 | N | 0.222 | neutral | None | None | None | None | N |
| S/L | 0.065 | likely_benign | 0.0612 | benign | -0.282 | Destabilizing | 0.081 | N | 0.347 | neutral | None | None | None | None | N |
| S/M | 0.1133 | likely_benign | 0.1098 | benign | -0.051 | Destabilizing | 0.555 | D | 0.359 | neutral | None | None | None | None | N |
| S/N | 0.1068 | likely_benign | 0.1018 | benign | -0.274 | Destabilizing | 0.149 | N | 0.235 | neutral | None | None | None | None | N |
| S/P | 0.2338 | likely_benign | 0.2506 | benign | -0.349 | Destabilizing | 0.211 | N | 0.379 | neutral | N | 0.496951523 | None | None | N |
| S/Q | 0.3407 | ambiguous | 0.3285 | benign | -0.48 | Destabilizing | 0.149 | N | 0.315 | neutral | None | None | None | None | N |
| S/R | 0.492 | ambiguous | 0.4757 | ambiguous | -0.307 | Destabilizing | 0.149 | N | 0.377 | neutral | None | None | None | None | N |
| S/T | 0.0611 | likely_benign | 0.0601 | benign | -0.386 | Destabilizing | None | N | 0.065 | neutral | N | 0.395381807 | None | None | N |
| S/V | 0.1068 | likely_benign | 0.1031 | benign | -0.349 | Destabilizing | 0.081 | N | 0.351 | neutral | None | None | None | None | N |
| S/W | 0.3519 | ambiguous | 0.3607 | ambiguous | -1.019 | Destabilizing | 0.935 | D | 0.449 | neutral | None | None | None | None | N |
| S/Y | 0.2051 | likely_benign | 0.2063 | benign | -0.752 | Destabilizing | 0.484 | N | 0.401 | neutral | N | 0.478365763 | 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.