Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 23812 | 71659;71660;71661 | chr2:178574698;178574697;178574696 | chr2:179439425;179439424;179439423 |
| N2AB | 22171 | 66736;66737;66738 | chr2:178574698;178574697;178574696 | chr2:179439425;179439424;179439423 |
| N2A | 21244 | 63955;63956;63957 | chr2:178574698;178574697;178574696 | chr2:179439425;179439424;179439423 |
| N2B | 14747 | 44464;44465;44466 | chr2:178574698;178574697;178574696 | chr2:179439425;179439424;179439423 |
| Novex-1 | 14872 | 44839;44840;44841 | chr2:178574698;178574697;178574696 | chr2:179439425;179439424;179439423 |
| Novex-2 | 14939 | 45040;45041;45042 | chr2:178574698;178574697;178574696 | chr2:179439425;179439424;179439423 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/D | rs1363526137  |
-1.156 | 0.029 | N | 0.565 | 0.171 | 0.163833314356 | gnomAD-2.1.1 | 8.06E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.78E-05 | 0 |
| G/D | rs1363526137 |
-1.156 | 0.029 | N | 0.565 | 0.171 | 0.163833314356 | gnomAD-4.0.0 | 4.10634E-06 | None | None | None | None | N | None | 2.98918E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 4.49807E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.0773 | likely_benign | 0.0685 | benign | -0.858 | Destabilizing | None | N | 0.233 | neutral | N | 0.392202642 | None | None | N |
| G/C | 0.1158 | likely_benign | 0.1142 | benign | -1.028 | Destabilizing | None | N | 0.641 | neutral | N | 0.434340053 | None | None | N |
| G/D | 0.5017 | ambiguous | 0.4621 | ambiguous | -1.474 | Destabilizing | 0.029 | N | 0.565 | neutral | N | 0.434340053 | None | None | N |
| G/E | 0.4265 | ambiguous | 0.4046 | ambiguous | -1.529 | Destabilizing | 0.038 | N | 0.587 | neutral | None | None | None | None | N |
| G/F | 0.4464 | ambiguous | 0.4023 | ambiguous | -1.08 | Destabilizing | 0.12 | N | 0.608 | neutral | None | None | None | None | N |
| G/H | 0.4328 | ambiguous | 0.4185 | ambiguous | -1.409 | Destabilizing | 0.214 | N | 0.557 | neutral | None | None | None | None | N |
| G/I | 0.3286 | likely_benign | 0.3076 | benign | -0.486 | Destabilizing | 0.072 | N | 0.612 | neutral | None | None | None | None | N |
| G/K | 0.7959 | likely_pathogenic | 0.7512 | pathogenic | -1.52 | Destabilizing | 0.038 | N | 0.587 | neutral | None | None | None | None | N |
| G/L | 0.4921 | ambiguous | 0.4526 | ambiguous | -0.486 | Destabilizing | 0.031 | N | 0.594 | neutral | None | None | None | None | N |
| G/M | 0.4681 | ambiguous | 0.4371 | ambiguous | -0.439 | Destabilizing | 0.628 | D | 0.567 | neutral | None | None | None | None | N |
| G/N | 0.3885 | ambiguous | 0.356 | ambiguous | -1.201 | Destabilizing | 0.038 | N | 0.547 | neutral | None | None | None | None | N |
| G/P | 0.2434 | likely_benign | 0.2574 | benign | -0.57 | Destabilizing | None | N | 0.567 | neutral | None | None | None | None | N |
| G/Q | 0.5301 | ambiguous | 0.4964 | ambiguous | -1.397 | Destabilizing | 0.214 | N | 0.6 | neutral | None | None | None | None | N |
| G/R | 0.6671 | likely_pathogenic | 0.6205 | pathogenic | -1.119 | Destabilizing | 0.171 | N | 0.601 | neutral | N | 0.415060859 | None | None | N |
| G/S | 0.0831 | likely_benign | 0.0775 | benign | -1.422 | Destabilizing | None | N | 0.23 | neutral | N | 0.389586411 | None | None | N |
| G/T | 0.1764 | likely_benign | 0.166 | benign | -1.409 | Destabilizing | 0.016 | N | 0.585 | neutral | None | None | None | None | N |
| G/V | 0.211 | likely_benign | 0.1976 | benign | -0.57 | Destabilizing | 0.029 | N | 0.608 | neutral | N | 0.422525549 | None | None | N |
| G/W | 0.3837 | ambiguous | 0.3874 | ambiguous | -1.432 | Destabilizing | 0.676 | D | 0.565 | neutral | None | None | None | None | N |
| G/Y | 0.3324 | likely_benign | 0.3018 | benign | -1.054 | Destabilizing | 0.001 | N | 0.657 | 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.