Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 1485 | 4678;4679;4680 | chr2:178777731;178777730;178777729 | chr2:179642458;179642457;179642456 |
| N2AB | 1485 | 4678;4679;4680 | chr2:178777731;178777730;178777729 | chr2:179642458;179642457;179642456 |
| N2A | 1485 | 4678;4679;4680 | chr2:178777731;178777730;178777729 | chr2:179642458;179642457;179642456 |
| N2B | 1439 | 4540;4541;4542 | chr2:178777731;178777730;178777729 | chr2:179642458;179642457;179642456 |
| Novex-1 | 1439 | 4540;4541;4542 | chr2:178777731;178777730;178777729 | chr2:179642458;179642457;179642456 |
| Novex-2 | 1439 | 4540;4541;4542 | chr2:178777731;178777730;178777729 | chr2:179642458;179642457;179642456 |
| Novex-3 | 1485 | 4678;4679;4680 | chr2:178777731;178777730;178777729 | chr2:179642458;179642457;179642456 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| M/V | rs753632784  |
0.155 | 0.985 | N | 0.456 | 0.369 | 0.545780674572 | gnomAD-2.1.1 | 7.08E-05 | None | None | None | None | I | None | 0 | 5.64876E-04 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| M/V | rs753632784 |
0.155 | 0.985 | N | 0.456 | 0.369 | 0.545780674572 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | I | None | 0 | 1.30822E-04 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| M/V | rs753632784 |
0.155 | 0.985 | N | 0.456 | 0.369 | 0.545780674572 | gnomAD-4.0.0 | 1.98264E-05 | None | None | None | None | I | None | 1.33451E-05 | 4.33304E-04 | None | 0 | 0 | None | 0 | 0 | 4.23735E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| M/A | 0.6131 | likely_pathogenic | 0.6699 | pathogenic | -0.931 | Destabilizing | 0.989 | D | 0.583 | neutral | None | None | None | None | I |
| M/C | 0.9438 | likely_pathogenic | 0.9551 | pathogenic | -0.636 | Destabilizing | 1.0 | D | 0.555 | neutral | None | None | None | None | I |
| M/D | 0.9682 | likely_pathogenic | 0.9746 | pathogenic | 0.019 | Stabilizing | 0.999 | D | 0.658 | neutral | None | None | None | None | I |
| M/E | 0.8545 | likely_pathogenic | 0.8724 | pathogenic | -0.015 | Destabilizing | 0.999 | D | 0.581 | neutral | None | None | None | None | I |
| M/F | 0.5724 | likely_pathogenic | 0.5816 | pathogenic | -0.354 | Destabilizing | 0.999 | D | 0.484 | neutral | None | None | None | None | I |
| M/G | 0.9132 | likely_pathogenic | 0.933 | pathogenic | -1.154 | Destabilizing | 0.995 | D | 0.627 | neutral | None | None | None | None | I |
| M/H | 0.8626 | likely_pathogenic | 0.8807 | pathogenic | -0.313 | Destabilizing | 1.0 | D | 0.639 | neutral | None | None | None | None | I |
| M/I | 0.6387 | likely_pathogenic | 0.6559 | pathogenic | -0.417 | Destabilizing | 0.985 | D | 0.565 | neutral | N | 0.499687427 | None | None | I |
| M/K | 0.6105 | likely_pathogenic | 0.6335 | pathogenic | 0.02 | Stabilizing | 0.994 | D | 0.59 | neutral | N | 0.462533393 | None | None | I |
| M/L | 0.1889 | likely_benign | 0.1933 | benign | -0.417 | Destabilizing | 0.927 | D | 0.275 | neutral | N | 0.468534326 | None | None | I |
| M/N | 0.8327 | likely_pathogenic | 0.8542 | pathogenic | 0.219 | Stabilizing | 0.999 | D | 0.636 | neutral | None | None | None | None | I |
| M/P | 0.7227 | likely_pathogenic | 0.7658 | pathogenic | -0.56 | Destabilizing | 0.999 | D | 0.637 | neutral | None | None | None | None | I |
| M/Q | 0.5792 | likely_pathogenic | 0.6127 | pathogenic | 0.062 | Stabilizing | 0.999 | D | 0.49 | neutral | None | None | None | None | I |
| M/R | 0.6095 | likely_pathogenic | 0.6373 | pathogenic | 0.538 | Stabilizing | 0.998 | D | 0.543 | neutral | N | 0.476653018 | None | None | I |
| M/S | 0.7015 | likely_pathogenic | 0.7425 | pathogenic | -0.282 | Destabilizing | 0.995 | D | 0.579 | neutral | None | None | None | None | I |
| M/T | 0.6167 | likely_pathogenic | 0.6603 | pathogenic | -0.214 | Destabilizing | 0.994 | D | 0.587 | neutral | N | 0.47525259 | None | None | I |
| M/V | 0.1627 | likely_benign | 0.1731 | benign | -0.56 | Destabilizing | 0.985 | D | 0.456 | neutral | N | 0.488746398 | None | None | I |
| M/W | 0.9163 | likely_pathogenic | 0.9275 | pathogenic | -0.3 | Destabilizing | 1.0 | D | 0.587 | neutral | None | None | None | None | I |
| M/Y | 0.8273 | likely_pathogenic | 0.8384 | pathogenic | -0.231 | Destabilizing | 0.999 | D | 0.562 | 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.