Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 35780 | 107563;107564;107565 | chr2:178528313;178528312;178528311 | chr2:179393040;179393039;179393038 |
| N2AB | 34139 | 102640;102641;102642 | chr2:178528313;178528312;178528311 | chr2:179393040;179393039;179393038 |
| N2A | 33212 | 99859;99860;99861 | chr2:178528313;178528312;178528311 | chr2:179393040;179393039;179393038 |
| N2B | 26715 | 80368;80369;80370 | chr2:178528313;178528312;178528311 | chr2:179393040;179393039;179393038 |
| Novex-1 | 26840 | 80743;80744;80745 | chr2:178528313;178528312;178528311 | chr2:179393040;179393039;179393038 |
| Novex-2 | 26907 | 80944;80945;80946 | chr2:178528313;178528312;178528311 | chr2:179393040;179393039;179393038 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/C | rs1687436055  |
None | 0.964 | N | 0.47 | 0.33 | 0.604971122344 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 9.43E-05 | 0 | 0 | 0 | 0 |
| R/C | rs1687436055 |
None | 0.964 | N | 0.47 | 0.33 | 0.604971122344 | gnomAD-4.0.0 | 1.15289E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 4.70706E-05 | 0 | 9.57098E-06 | 0 | 5.68699E-05 |
| R/H | rs770904787 |
-0.581 | None | N | 0.269 | 0.128 | 0.0986583533028 | gnomAD-2.1.1 | 1.61E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 5.57E-05 | None | 0 | None | 0 | 2.66E-05 | 0 |
| R/H | rs770904787 |
-0.581 | None | N | 0.269 | 0.128 | 0.0986583533028 | gnomAD-4.0.0 | 8.89442E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 5.0388E-05 | None | 0 | 0 | 6.29605E-06 | 1.15953E-05 | 4.96919E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/A | 0.3875 | ambiguous | 0.4339 | ambiguous | 0.044 | Stabilizing | 0.031 | N | 0.469 | neutral | None | None | None | None | I |
| R/C | 0.1345 | likely_benign | 0.1673 | benign | -0.226 | Destabilizing | 0.964 | D | 0.47 | neutral | N | 0.447632716 | None | None | I |
| R/D | 0.6005 | likely_pathogenic | 0.701 | pathogenic | -0.214 | Destabilizing | 0.016 | N | 0.455 | neutral | None | None | None | None | I |
| R/E | 0.403 | ambiguous | 0.4456 | ambiguous | -0.142 | Destabilizing | 0.016 | N | 0.426 | neutral | None | None | None | None | I |
| R/F | 0.4192 | ambiguous | 0.5022 | ambiguous | -0.226 | Destabilizing | None | N | 0.411 | neutral | None | None | None | None | I |
| R/G | 0.2473 | likely_benign | 0.3033 | benign | -0.138 | Destabilizing | 0.058 | N | 0.487 | neutral | N | 0.421464835 | None | None | I |
| R/H | 0.0747 | likely_benign | 0.0825 | benign | -0.813 | Destabilizing | None | N | 0.269 | neutral | N | 0.4046313 | None | None | I |
| R/I | 0.3558 | ambiguous | 0.3829 | ambiguous | 0.488 | Stabilizing | 0.072 | N | 0.513 | neutral | None | None | None | None | I |
| R/K | 0.1585 | likely_benign | 0.1564 | benign | -0.077 | Destabilizing | 0.031 | N | 0.358 | neutral | None | None | None | None | I |
| R/L | 0.2177 | likely_benign | 0.2509 | benign | 0.488 | Stabilizing | 0.03 | N | 0.489 | neutral | N | 0.380020857 | None | None | I |
| R/M | 0.4256 | ambiguous | 0.4317 | ambiguous | -0.068 | Destabilizing | 0.628 | D | 0.491 | neutral | None | None | None | None | I |
| R/N | 0.4517 | ambiguous | 0.5593 | ambiguous | -0.026 | Destabilizing | None | N | 0.285 | neutral | None | None | None | None | I |
| R/P | 0.6994 | likely_pathogenic | 0.7739 | pathogenic | 0.36 | Stabilizing | 0.232 | N | 0.523 | neutral | N | 0.503659357 | None | None | I |
| R/Q | 0.1033 | likely_benign | 0.1075 | benign | -0.026 | Destabilizing | 0.072 | N | 0.459 | neutral | None | None | None | None | I |
| R/S | 0.4008 | ambiguous | 0.4719 | ambiguous | -0.243 | Destabilizing | 0.058 | N | 0.467 | neutral | N | 0.417347094 | None | None | I |
| R/T | 0.3405 | ambiguous | 0.3669 | ambiguous | -0.036 | Destabilizing | 0.031 | N | 0.449 | neutral | None | None | None | None | I |
| R/V | 0.4438 | ambiguous | 0.4759 | ambiguous | 0.36 | Stabilizing | 0.072 | N | 0.466 | neutral | None | None | None | None | I |
| R/W | 0.1506 | likely_benign | 0.1712 | benign | -0.385 | Destabilizing | 0.864 | D | 0.47 | neutral | None | None | None | None | I |
| R/Y | 0.2328 | likely_benign | 0.2952 | benign | 0.043 | Stabilizing | 0.016 | N | 0.458 | neutral | None | None | None | None | I |
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.