Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 29027 | 87304;87305;87306 | chr2:178558380;178558379;178558378 | chr2:179423107;179423106;179423105 |
| N2AB | 27386 | 82381;82382;82383 | chr2:178558380;178558379;178558378 | chr2:179423107;179423106;179423105 |
| N2A | 26459 | 79600;79601;79602 | chr2:178558380;178558379;178558378 | chr2:179423107;179423106;179423105 |
| N2B | 19962 | 60109;60110;60111 | chr2:178558380;178558379;178558378 | chr2:179423107;179423106;179423105 |
| Novex-1 | 20087 | 60484;60485;60486 | chr2:178558380;178558379;178558378 | chr2:179423107;179423106;179423105 |
| Novex-2 | 20154 | 60685;60686;60687 | chr2:178558380;178558379;178558378 | chr2:179423107;179423106;179423105 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/K | rs763879330  |
-1.026 | None | N | 0.247 | 0.151 | 0.305086939656 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| R/K | rs763879330 |
-1.026 | None | N | 0.247 | 0.151 | 0.305086939656 | gnomAD-4.0.0 | 3.42146E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.69846E-06 | 1.15961E-05 | 1.65689E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/A | 0.5981 | likely_pathogenic | 0.5089 | ambiguous | -0.991 | Destabilizing | 0.592 | D | 0.448 | neutral | None | None | None | None | I |
| R/C | 0.2981 | likely_benign | 0.2533 | benign | -0.929 | Destabilizing | 0.998 | D | 0.593 | neutral | None | None | None | None | I |
| R/D | 0.9269 | likely_pathogenic | 0.8933 | pathogenic | -0.085 | Destabilizing | 0.875 | D | 0.527 | neutral | None | None | None | None | I |
| R/E | 0.6256 | likely_pathogenic | 0.5581 | ambiguous | 0.09 | Stabilizing | 0.303 | N | 0.374 | neutral | None | None | None | None | I |
| R/F | 0.872 | likely_pathogenic | 0.8234 | pathogenic | -0.45 | Destabilizing | 0.984 | D | 0.585 | neutral | None | None | None | None | I |
| R/G | 0.5314 | ambiguous | 0.4543 | ambiguous | -1.359 | Destabilizing | 0.841 | D | 0.533 | neutral | N | 0.467124475 | None | None | I |
| R/H | 0.2764 | likely_benign | 0.2314 | benign | -1.51 | Destabilizing | 0.954 | D | 0.513 | neutral | None | None | None | None | I |
| R/I | 0.6096 | likely_pathogenic | 0.5238 | ambiguous | 0.029 | Stabilizing | 0.94 | D | 0.591 | neutral | N | 0.470729539 | None | None | I |
| R/K | 0.1296 | likely_benign | 0.0955 | benign | -0.918 | Destabilizing | None | N | 0.247 | neutral | N | 0.490193335 | None | None | I |
| R/L | 0.5847 | likely_pathogenic | 0.5013 | ambiguous | 0.029 | Stabilizing | 0.744 | D | 0.533 | neutral | None | None | None | None | I |
| R/M | 0.5449 | ambiguous | 0.442 | ambiguous | -0.452 | Destabilizing | 0.984 | D | 0.582 | neutral | None | None | None | None | I |
| R/N | 0.8655 | likely_pathogenic | 0.8174 | pathogenic | -0.534 | Destabilizing | 0.875 | D | 0.384 | neutral | None | None | None | None | I |
| R/P | 0.9592 | likely_pathogenic | 0.9455 | pathogenic | -0.291 | Destabilizing | 0.934 | D | 0.558 | neutral | None | None | None | None | I |
| R/Q | 0.1635 | likely_benign | 0.1387 | benign | -0.544 | Destabilizing | 0.722 | D | 0.393 | neutral | None | None | None | None | I |
| R/S | 0.7257 | likely_pathogenic | 0.6611 | pathogenic | -1.344 | Destabilizing | 0.522 | D | 0.433 | neutral | N | 0.353787821 | None | None | I |
| R/T | 0.4746 | ambiguous | 0.3815 | ambiguous | -0.961 | Destabilizing | 0.841 | D | 0.451 | neutral | N | 0.458830278 | None | None | I |
| R/V | 0.5488 | ambiguous | 0.4803 | ambiguous | -0.291 | Destabilizing | 0.678 | D | 0.535 | neutral | None | None | None | None | I |
| R/W | 0.4874 | ambiguous | 0.4493 | ambiguous | -0.02 | Destabilizing | 0.999 | D | 0.599 | neutral | None | None | None | None | I |
| R/Y | 0.7586 | likely_pathogenic | 0.7012 | pathogenic | 0.203 | Stabilizing | 0.984 | D | 0.6 | 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.