Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 9404 | 28435;28436;28437 | chr2:178710887;178710886;178710885 | chr2:179575614;179575613;179575612 |
| N2AB | 9087 | 27484;27485;27486 | chr2:178710887;178710886;178710885 | chr2:179575614;179575613;179575612 |
| N2A | 8160 | 24703;24704;24705 | chr2:178710887;178710886;178710885 | chr2:179575614;179575613;179575612 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/P | None | None | 0.794 | None | 0.477 | 0.204 | 0.406394481233 | gnomAD-4.0.0 | 1.36858E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 2.31906E-05 | 0 |
| A/V | rs1238309373  |
0.234 | 0.001 | None | 0.065 | 0.105 | 0.408307896497 | gnomAD-4.0.0 | 2.05287E-06 | None | None | None | None | N | None | 2.98739E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.31323E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.3759 | ambiguous | 0.4066 | ambiguous | -0.721 | Destabilizing | 0.983 | D | 0.411 | neutral | None | None | None | None | N |
| A/D | 0.1281 | likely_benign | 0.1619 | benign | -0.376 | Destabilizing | 0.213 | N | 0.425 | neutral | None | None | None | None | N |
| A/E | 0.118 | likely_benign | 0.1291 | benign | -0.455 | Destabilizing | 0.01 | N | 0.201 | neutral | None | None | None | None | N |
| A/F | 0.1633 | likely_benign | 0.2048 | benign | -0.666 | Destabilizing | 0.716 | D | 0.487 | neutral | None | None | None | None | N |
| A/G | 0.0986 | likely_benign | 0.1148 | benign | -0.531 | Destabilizing | 0.101 | N | 0.277 | neutral | None | None | None | None | N |
| A/H | 0.223 | likely_benign | 0.2791 | benign | -0.551 | Destabilizing | 0.983 | D | 0.447 | neutral | None | None | None | None | N |
| A/I | 0.1251 | likely_benign | 0.1683 | benign | -0.139 | Destabilizing | 0.11 | N | 0.385 | neutral | None | None | None | None | N |
| A/K | 0.1888 | likely_benign | 0.2412 | benign | -0.763 | Destabilizing | 0.418 | N | 0.377 | neutral | None | None | None | None | N |
| A/L | 0.0892 | likely_benign | 0.1106 | benign | -0.139 | Destabilizing | 0.129 | N | 0.359 | neutral | None | None | None | None | N |
| A/M | 0.1368 | likely_benign | 0.1633 | benign | -0.387 | Destabilizing | 0.129 | N | 0.351 | neutral | None | None | None | None | N |
| A/N | 0.1257 | likely_benign | 0.1512 | benign | -0.5 | Destabilizing | 0.418 | N | 0.465 | neutral | None | None | None | None | N |
| A/P | 0.1157 | likely_benign | 0.1312 | benign | -0.18 | Destabilizing | 0.794 | D | 0.477 | neutral | None | None | None | None | N |
| A/Q | 0.1478 | likely_benign | 0.169 | benign | -0.656 | Destabilizing | 0.716 | D | 0.481 | neutral | None | None | None | None | N |
| A/R | 0.166 | likely_benign | 0.2065 | benign | -0.423 | Destabilizing | 0.716 | D | 0.482 | neutral | None | None | None | None | N |
| A/S | 0.0694 | likely_benign | 0.0757 | benign | -0.771 | Destabilizing | 0.003 | N | 0.072 | neutral | None | None | None | None | N |
| A/T | 0.0674 | likely_benign | 0.0796 | benign | -0.753 | Destabilizing | 0.001 | N | 0.068 | neutral | None | None | None | None | N |
| A/V | 0.0788 | likely_benign | 0.0982 | benign | -0.18 | Destabilizing | 0.001 | N | 0.065 | neutral | None | None | None | None | N |
| A/W | 0.4566 | ambiguous | 0.5408 | ambiguous | -0.92 | Destabilizing | 0.983 | D | 0.494 | neutral | None | None | None | None | N |
| A/Y | 0.2545 | likely_benign | 0.317 | benign | -0.522 | Destabilizing | 0.836 | D | 0.484 | 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.