Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 8780 | 26563;26564;26565 | chr2:178714436;178714435;178714434 | chr2:179579163;179579162;179579161 |
| N2AB | 8463 | 25612;25613;25614 | chr2:178714436;178714435;178714434 | chr2:179579163;179579162;179579161 |
| N2A | 7536 | 22831;22832;22833 | chr2:178714436;178714435;178714434 | chr2:179579163;179579162;179579161 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/G | None | None | 0.001 | N | 0.143 | 0.075 | 0.0762999501168 | gnomAD-4.0.0 | 2.40064E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.625E-06 | 0 | 0 |
| S/N | rs764652580  |
-0.256 | 0.083 | N | 0.435 | 0.262 | 0.0920862733494 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.94E-06 | 0 |
| S/N | rs764652580 |
-0.256 | 0.083 | N | 0.435 | 0.262 | 0.0920862733494 | gnomAD-4.0.0 | 1.77904E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.33872E-05 | 0 | 0 |
| S/R | rs756708089 |
-0.324 | 0.953 | N | 0.339 | 0.272 | 0.306377322295 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.94E-06 | 0 |
| S/R | rs756708089 |
-0.324 | 0.953 | N | 0.339 | 0.272 | 0.306377322295 | gnomAD-4.0.0 | 1.59146E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85863E-06 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.1152 | likely_benign | 0.1288 | benign | -0.305 | Destabilizing | 0.015 | N | 0.366 | neutral | None | None | None | None | N |
| S/C | 0.2956 | likely_benign | 0.3102 | benign | -0.302 | Destabilizing | 0.984 | D | 0.33 | neutral | N | 0.494110032 | None | None | N |
| S/D | 0.3524 | ambiguous | 0.3815 | ambiguous | 0.122 | Stabilizing | 0.003 | N | 0.185 | neutral | None | None | None | None | N |
| S/E | 0.6169 | likely_pathogenic | 0.6559 | pathogenic | 0.03 | Stabilizing | 0.416 | N | 0.37 | neutral | None | None | None | None | N |
| S/F | 0.3396 | likely_benign | 0.4142 | ambiguous | -0.88 | Destabilizing | 0.988 | D | 0.404 | neutral | None | None | None | None | N |
| S/G | 0.096 | likely_benign | 0.1035 | benign | -0.419 | Destabilizing | 0.001 | N | 0.143 | neutral | N | 0.468310979 | None | None | N |
| S/H | 0.5131 | ambiguous | 0.5379 | ambiguous | -0.895 | Destabilizing | 0.988 | D | 0.305 | neutral | None | None | None | None | N |
| S/I | 0.4012 | ambiguous | 0.4809 | ambiguous | -0.135 | Destabilizing | 0.984 | D | 0.42 | neutral | N | 0.505377432 | None | None | N |
| S/K | 0.7507 | likely_pathogenic | 0.7915 | pathogenic | -0.524 | Destabilizing | 0.792 | D | 0.375 | neutral | None | None | None | None | N |
| S/L | 0.1595 | likely_benign | 0.1934 | benign | -0.135 | Destabilizing | 0.885 | D | 0.414 | neutral | None | None | None | None | N |
| S/M | 0.2857 | likely_benign | 0.3224 | benign | 0.023 | Stabilizing | 0.997 | D | 0.309 | neutral | None | None | None | None | N |
| S/N | 0.1481 | likely_benign | 0.1695 | benign | -0.259 | Destabilizing | 0.083 | N | 0.435 | neutral | N | 0.467114553 | None | None | N |
| S/P | 0.6933 | likely_pathogenic | 0.7807 | pathogenic | -0.162 | Destabilizing | 0.957 | D | 0.337 | neutral | None | None | None | None | N |
| S/Q | 0.6515 | likely_pathogenic | 0.6876 | pathogenic | -0.486 | Destabilizing | 0.964 | D | 0.376 | neutral | None | None | None | None | N |
| S/R | 0.6979 | likely_pathogenic | 0.753 | pathogenic | -0.308 | Destabilizing | 0.953 | D | 0.339 | neutral | N | 0.486259219 | None | None | N |
| S/T | 0.1011 | likely_benign | 0.1097 | benign | -0.348 | Destabilizing | 0.154 | N | 0.426 | neutral | N | 0.466887516 | None | None | N |
| S/V | 0.37 | ambiguous | 0.4426 | ambiguous | -0.162 | Destabilizing | 0.91 | D | 0.437 | neutral | None | None | None | None | N |
| S/W | 0.4665 | ambiguous | 0.5211 | ambiguous | -0.914 | Destabilizing | 0.997 | D | 0.481 | neutral | None | None | None | None | N |
| S/Y | 0.3009 | likely_benign | 0.3408 | ambiguous | -0.628 | Destabilizing | 0.988 | D | 0.403 | 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.