Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 9020 | 27283;27284;27285 | chr2:178712967;178712966;178712965 | chr2:179577694;179577693;179577692 |
| N2AB | 8703 | 26332;26333;26334 | chr2:178712967;178712966;178712965 | chr2:179577694;179577693;179577692 |
| N2A | 7776 | 23551;23552;23553 | chr2:178712967;178712966;178712965 | chr2:179577694;179577693;179577692 |
| 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/F | rs1211690126  |
-0.655 | 0.988 | N | 0.576 | 0.369 | 0.692115123808 | gnomAD-2.1.1 | 4.05E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.95E-06 | 0 |
| S/F | rs1211690126 |
-0.655 | 0.988 | N | 0.576 | 0.369 | 0.692115123808 | gnomAD-4.0.0 | 6.84952E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.0021E-07 | 0 | 0 |
| S/T | None | None | 0.134 | N | 0.239 | 0.09 | 0.18995819373 | gnomAD-4.0.0 | 2.05486E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.80048E-06 | 1.16139E-05 | 0 |
| S/Y | None | None | 0.996 | N | 0.573 | 0.4 | 0.677148692323 | gnomAD-4.0.0 | 6.84952E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.16139E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.0839 | likely_benign | 0.094 | benign | -0.365 | Destabilizing | 0.826 | D | 0.309 | neutral | N | 0.486604609 | None | None | N |
| S/C | 0.1456 | likely_benign | 0.1818 | benign | -0.357 | Destabilizing | 0.077 | N | 0.336 | neutral | D | 0.539084176 | None | None | N |
| S/D | 0.4634 | ambiguous | 0.5724 | pathogenic | 0.556 | Stabilizing | 0.969 | D | 0.439 | neutral | None | None | None | None | N |
| S/E | 0.4994 | ambiguous | 0.591 | pathogenic | 0.555 | Stabilizing | 0.939 | D | 0.449 | neutral | None | None | None | None | N |
| S/F | 0.1394 | likely_benign | 0.1848 | benign | -0.714 | Destabilizing | 0.988 | D | 0.576 | neutral | N | 0.504597187 | None | None | N |
| S/G | 0.1485 | likely_benign | 0.1724 | benign | -0.576 | Destabilizing | 0.969 | D | 0.397 | neutral | None | None | None | None | N |
| S/H | 0.3262 | likely_benign | 0.4116 | ambiguous | -0.852 | Destabilizing | 0.999 | D | 0.471 | neutral | None | None | None | None | N |
| S/I | 0.1422 | likely_benign | 0.1772 | benign | 0.076 | Stabilizing | 0.884 | D | 0.513 | neutral | None | None | None | None | N |
| S/K | 0.6471 | likely_pathogenic | 0.7516 | pathogenic | -0.166 | Destabilizing | 0.884 | D | 0.396 | neutral | None | None | None | None | N |
| S/L | 0.0922 | likely_benign | 0.1113 | benign | 0.076 | Stabilizing | 0.884 | D | 0.495 | neutral | None | None | None | None | N |
| S/M | 0.225 | likely_benign | 0.2531 | benign | -0.069 | Destabilizing | 0.991 | D | 0.488 | neutral | None | None | None | None | N |
| S/N | 0.2177 | likely_benign | 0.2832 | benign | -0.214 | Destabilizing | 0.969 | D | 0.457 | neutral | None | None | None | None | N |
| S/P | 0.8951 | likely_pathogenic | 0.9337 | pathogenic | -0.038 | Destabilizing | 0.996 | D | 0.525 | neutral | N | 0.491012382 | None | None | N |
| S/Q | 0.4755 | ambiguous | 0.5519 | ambiguous | -0.248 | Destabilizing | 0.982 | D | 0.473 | neutral | None | None | None | None | N |
| S/R | 0.4952 | ambiguous | 0.622 | pathogenic | -0.118 | Destabilizing | 0.1 | N | 0.26 | neutral | None | None | None | None | N |
| S/T | 0.0844 | likely_benign | 0.0905 | benign | -0.258 | Destabilizing | 0.134 | N | 0.239 | neutral | N | 0.508411816 | None | None | N |
| S/V | 0.1293 | likely_benign | 0.1466 | benign | -0.038 | Destabilizing | 0.17 | N | 0.33 | neutral | None | None | None | None | N |
| S/W | 0.3317 | likely_benign | 0.4263 | ambiguous | -0.77 | Destabilizing | 0.999 | D | 0.676 | prob.neutral | None | None | None | None | N |
| S/Y | 0.1482 | likely_benign | 0.195 | benign | -0.421 | Destabilizing | 0.996 | D | 0.573 | neutral | N | 0.491581813 | 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.