Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 16934 | 51025;51026;51027 | chr2:178611429;178611428;178611427 | chr2:179476156;179476155;179476154 |
| N2AB | 15293 | 46102;46103;46104 | chr2:178611429;178611428;178611427 | chr2:179476156;179476155;179476154 |
| N2A | 14366 | 43321;43322;43323 | chr2:178611429;178611428;178611427 | chr2:179476156;179476155;179476154 |
| N2B | 7869 | 23830;23831;23832 | chr2:178611429;178611428;178611427 | chr2:179476156;179476155;179476154 |
| Novex-1 | 7994 | 24205;24206;24207 | chr2:178611429;178611428;178611427 | chr2:179476156;179476155;179476154 |
| Novex-2 | 8061 | 24406;24407;24408 | chr2:178611429;178611428;178611427 | chr2:179476156;179476155;179476154 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/T | rs769512213  |
-0.152 | 0.062 | N | 0.423 | 0.211 | 0.579660715472 | gnomAD-2.1.1 | 1.62E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 3.58E-05 | 0 |
| I/T | rs769512213 |
-0.152 | 0.062 | N | 0.423 | 0.211 | 0.579660715472 | gnomAD-4.0.0 | 7.5302E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.89768E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/A | 0.1241 | likely_benign | 0.1855 | benign | -0.395 | Destabilizing | 0.035 | N | 0.441 | neutral | None | None | None | None | I |
| I/C | 0.5623 | ambiguous | 0.6388 | pathogenic | -0.663 | Destabilizing | 0.824 | D | 0.473 | neutral | None | None | None | None | I |
| I/D | 0.7761 | likely_pathogenic | 0.8552 | pathogenic | -0.081 | Destabilizing | 0.555 | D | 0.576 | neutral | None | None | None | None | I |
| I/E | 0.6381 | likely_pathogenic | 0.7621 | pathogenic | -0.183 | Destabilizing | 0.555 | D | 0.552 | neutral | None | None | None | None | I |
| I/F | 0.2326 | likely_benign | 0.2687 | benign | -0.548 | Destabilizing | 0.317 | N | 0.377 | neutral | N | 0.479277173 | None | None | I |
| I/G | 0.4675 | ambiguous | 0.623 | pathogenic | -0.508 | Destabilizing | 0.262 | N | 0.545 | neutral | None | None | None | None | I |
| I/H | 0.6381 | likely_pathogenic | 0.7339 | pathogenic | 0.146 | Stabilizing | 0.935 | D | 0.546 | neutral | None | None | None | None | I |
| I/K | 0.5756 | likely_pathogenic | 0.679 | pathogenic | -0.187 | Destabilizing | 0.555 | D | 0.551 | neutral | None | None | None | None | I |
| I/L | 0.1445 | likely_benign | 0.1905 | benign | -0.227 | Destabilizing | 0.005 | N | 0.329 | neutral | N | 0.475493775 | None | None | I |
| I/M | 0.1017 | likely_benign | 0.1401 | benign | -0.399 | Destabilizing | 0.317 | N | 0.408 | neutral | N | 0.482818545 | None | None | I |
| I/N | 0.318 | likely_benign | 0.465 | ambiguous | -0.028 | Destabilizing | 0.741 | D | 0.571 | neutral | N | 0.479908714 | None | None | I |
| I/P | 0.8506 | likely_pathogenic | 0.9222 | pathogenic | -0.252 | Destabilizing | 0.555 | D | 0.576 | neutral | None | None | None | None | I |
| I/Q | 0.492 | ambiguous | 0.6324 | pathogenic | -0.239 | Destabilizing | 0.791 | D | 0.565 | neutral | None | None | None | None | I |
| I/R | 0.4504 | ambiguous | 0.5584 | ambiguous | 0.315 | Stabilizing | 0.555 | D | 0.567 | neutral | None | None | None | None | I |
| I/S | 0.2067 | likely_benign | 0.3091 | benign | -0.444 | Destabilizing | 0.117 | N | 0.551 | neutral | N | 0.476163996 | None | None | I |
| I/T | 0.0941 | likely_benign | 0.1401 | benign | -0.441 | Destabilizing | 0.062 | N | 0.423 | neutral | N | 0.479345733 | None | None | I |
| I/V | 0.0515 | likely_benign | 0.0484 | benign | -0.252 | Destabilizing | None | N | 0.157 | neutral | N | 0.407829757 | None | None | I |
| I/W | 0.8589 | likely_pathogenic | 0.9067 | pathogenic | -0.564 | Destabilizing | 0.935 | D | 0.597 | neutral | None | None | None | None | I |
| I/Y | 0.6901 | likely_pathogenic | 0.7518 | pathogenic | -0.304 | Destabilizing | 0.555 | D | 0.492 | 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.