Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 29981 | 90166;90167;90168 | chr2:178552959;178552958;178552957 | chr2:179417686;179417685;179417684 |
| N2AB | 28340 | 85243;85244;85245 | chr2:178552959;178552958;178552957 | chr2:179417686;179417685;179417684 |
| N2A | 27413 | 82462;82463;82464 | chr2:178552959;178552958;178552957 | chr2:179417686;179417685;179417684 |
| N2B | 20916 | 62971;62972;62973 | chr2:178552959;178552958;178552957 | chr2:179417686;179417685;179417684 |
| Novex-1 | 21041 | 63346;63347;63348 | chr2:178552959;178552958;178552957 | chr2:179417686;179417685;179417684 |
| Novex-2 | 21108 | 63547;63548;63549 | chr2:178552959;178552958;178552957 | chr2:179417686;179417685;179417684 |
| 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/P | rs1279876422  |
-0.087 | 0.815 | N | 0.364 | 0.278 | 0.312306559268 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.9E-06 | 0 |
| S/P | rs1279876422 |
-0.087 | 0.815 | N | 0.364 | 0.278 | 0.312306559268 | gnomAD-4.0.0 | 3.18521E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.71595E-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 | 0.08 | likely_benign | 0.0749 | benign | -0.574 | Destabilizing | 0.003 | N | 0.1 | neutral | N | 0.451216447 | None | None | N |
| S/C | 0.1316 | likely_benign | 0.1204 | benign | -0.46 | Destabilizing | 0.994 | D | 0.333 | neutral | N | 0.504970402 | None | None | N |
| S/D | 0.573 | likely_pathogenic | 0.5172 | ambiguous | 0.445 | Stabilizing | 0.742 | D | 0.266 | neutral | None | None | None | None | N |
| S/E | 0.6468 | likely_pathogenic | 0.5953 | pathogenic | 0.418 | Stabilizing | 0.373 | N | 0.321 | neutral | None | None | None | None | N |
| S/F | 0.2948 | likely_benign | 0.2507 | benign | -0.877 | Destabilizing | 0.939 | D | 0.394 | neutral | N | 0.50522429 | None | None | N |
| S/G | 0.1229 | likely_benign | 0.112 | benign | -0.772 | Destabilizing | 0.373 | N | 0.319 | neutral | None | None | None | None | N |
| S/H | 0.4521 | ambiguous | 0.3982 | ambiguous | -1.085 | Destabilizing | 0.953 | D | 0.348 | neutral | None | None | None | None | N |
| S/I | 0.193 | likely_benign | 0.1786 | benign | -0.166 | Destabilizing | 0.91 | D | 0.381 | neutral | None | None | None | None | N |
| S/K | 0.8061 | likely_pathogenic | 0.7573 | pathogenic | -0.422 | Destabilizing | 0.59 | D | 0.288 | neutral | None | None | None | None | N |
| S/L | 0.108 | likely_benign | 0.101 | benign | -0.166 | Destabilizing | 0.59 | D | 0.335 | neutral | None | None | None | None | N |
| S/M | 0.1693 | likely_benign | 0.1621 | benign | -0.146 | Destabilizing | 0.953 | D | 0.349 | neutral | None | None | None | None | N |
| S/N | 0.1449 | likely_benign | 0.1363 | benign | -0.345 | Destabilizing | 0.742 | D | 0.289 | neutral | None | None | None | None | N |
| S/P | 0.8836 | likely_pathogenic | 0.8257 | pathogenic | -0.27 | Destabilizing | 0.815 | D | 0.364 | neutral | N | 0.492600138 | None | None | N |
| S/Q | 0.5671 | likely_pathogenic | 0.5147 | ambiguous | -0.467 | Destabilizing | 0.101 | N | 0.111 | neutral | None | None | None | None | N |
| S/R | 0.7785 | likely_pathogenic | 0.728 | pathogenic | -0.29 | Destabilizing | 0.742 | D | 0.325 | neutral | None | None | None | None | N |
| S/T | 0.0738 | likely_benign | 0.0726 | benign | -0.445 | Destabilizing | 0.003 | N | 0.093 | neutral | N | 0.425261996 | None | None | N |
| S/V | 0.1666 | likely_benign | 0.1551 | benign | -0.27 | Destabilizing | 0.59 | D | 0.321 | neutral | None | None | None | None | N |
| S/W | 0.5335 | ambiguous | 0.4596 | ambiguous | -0.854 | Destabilizing | 0.996 | D | 0.443 | neutral | None | None | None | None | N |
| S/Y | 0.2816 | likely_benign | 0.2473 | benign | -0.573 | Destabilizing | 0.979 | D | 0.397 | neutral | N | 0.466609071 | 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.