Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 17236 | 51931;51932;51933 | chr2:178609717;178609716;178609715 | chr2:179474444;179474443;179474442 |
| N2AB | 15595 | 47008;47009;47010 | chr2:178609717;178609716;178609715 | chr2:179474444;179474443;179474442 |
| N2A | 14668 | 44227;44228;44229 | chr2:178609717;178609716;178609715 | chr2:179474444;179474443;179474442 |
| N2B | 8171 | 24736;24737;24738 | chr2:178609717;178609716;178609715 | chr2:179474444;179474443;179474442 |
| Novex-1 | 8296 | 25111;25112;25113 | chr2:178609717;178609716;178609715 | chr2:179474444;179474443;179474442 |
| Novex-2 | 8363 | 25312;25313;25314 | chr2:178609717;178609716;178609715 | chr2:179474444;179474443;179474442 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/P | rs1208923941  |
-0.272 | 0.001 | N | 0.223 | 0.151 | 0.115124310173 | gnomAD-2.1.1 | 4.09E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 9.06E-06 | 0 |
| A/P | rs1208923941 |
-0.272 | 0.001 | N | 0.223 | 0.151 | 0.115124310173 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| A/P | rs1208923941 |
-0.272 | 0.001 | N | 0.223 | 0.151 | 0.115124310173 | gnomAD-4.0.0 | 3.73511E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.10619E-06 | 0 | 0 |
| A/T | None | None | 0.003 | N | 0.241 | 0.097 | 0.101711395817 | gnomAD-4.0.0 | 2.06259E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.70973E-06 | 0 | 0 |
| A/V | rs1041202552 |
None | None | N | 0.246 | 0.09 | 0.176091768786 | gnomAD-4.0.0 | 4.83036E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.69711E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.5731 | likely_pathogenic | 0.5407 | ambiguous | -0.591 | Destabilizing | 0.703 | D | 0.507 | neutral | None | None | None | None | N |
| A/D | 0.7543 | likely_pathogenic | 0.6623 | pathogenic | -0.908 | Destabilizing | 0.112 | N | 0.479 | neutral | N | 0.515726498 | None | None | N |
| A/E | 0.6562 | likely_pathogenic | 0.5558 | ambiguous | -0.969 | Destabilizing | 0.25 | N | 0.413 | neutral | None | None | None | None | N |
| A/F | 0.6053 | likely_pathogenic | 0.5377 | ambiguous | -1.015 | Destabilizing | 0.538 | D | 0.649 | prob.neutral | None | None | None | None | N |
| A/G | 0.2493 | likely_benign | 0.2268 | benign | -1.016 | Destabilizing | None | N | 0.283 | neutral | N | 0.504952144 | None | None | N |
| A/H | 0.8039 | likely_pathogenic | 0.7589 | pathogenic | -1.218 | Destabilizing | 0.703 | D | 0.568 | neutral | None | None | None | None | N |
| A/I | 0.3709 | ambiguous | 0.3545 | ambiguous | -0.376 | Destabilizing | 0.001 | N | 0.235 | neutral | None | None | None | None | N |
| A/K | 0.8882 | likely_pathogenic | 0.8412 | pathogenic | -1.02 | Destabilizing | 0.25 | N | 0.408 | neutral | None | None | None | None | N |
| A/L | 0.3241 | likely_benign | 0.2808 | benign | -0.376 | Destabilizing | 0.064 | N | 0.331 | neutral | None | None | None | None | N |
| A/M | 0.4071 | ambiguous | 0.3792 | ambiguous | -0.25 | Destabilizing | 0.538 | D | 0.416 | neutral | None | None | None | None | N |
| A/N | 0.4754 | ambiguous | 0.4266 | ambiguous | -0.619 | Destabilizing | 0.002 | N | 0.405 | neutral | None | None | None | None | N |
| A/P | 0.1558 | likely_benign | 0.1374 | benign | -0.477 | Destabilizing | 0.001 | N | 0.223 | neutral | N | 0.396243024 | None | None | N |
| A/Q | 0.6666 | likely_pathogenic | 0.6098 | pathogenic | -0.812 | Destabilizing | 0.703 | D | 0.553 | neutral | None | None | None | None | N |
| A/R | 0.8579 | likely_pathogenic | 0.8047 | pathogenic | -0.657 | Destabilizing | 0.25 | N | 0.495 | neutral | None | None | None | None | N |
| A/S | 0.1366 | likely_benign | 0.1269 | benign | -0.918 | Destabilizing | 0.004 | N | 0.305 | neutral | N | 0.370040645 | None | None | N |
| A/T | 0.1854 | likely_benign | 0.1722 | benign | -0.893 | Destabilizing | 0.003 | N | 0.241 | neutral | N | 0.409559038 | None | None | N |
| A/V | 0.2223 | likely_benign | 0.206 | benign | -0.477 | Destabilizing | None | N | 0.246 | neutral | N | 0.428624802 | None | None | N |
| A/W | 0.9082 | likely_pathogenic | 0.8826 | pathogenic | -1.324 | Destabilizing | 0.964 | D | 0.667 | prob.neutral | None | None | None | None | N |
| A/Y | 0.7423 | likely_pathogenic | 0.6829 | pathogenic | -0.934 | Destabilizing | 0.703 | D | 0.601 | 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.