Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 16865 | 50818;50819;50820 | chr2:178611636;178611635;178611634 | chr2:179476363;179476362;179476361 |
| N2AB | 15224 | 45895;45896;45897 | chr2:178611636;178611635;178611634 | chr2:179476363;179476362;179476361 |
| N2A | 14297 | 43114;43115;43116 | chr2:178611636;178611635;178611634 | chr2:179476363;179476362;179476361 |
| N2B | 7800 | 23623;23624;23625 | chr2:178611636;178611635;178611634 | chr2:179476363;179476362;179476361 |
| Novex-1 | 7925 | 23998;23999;24000 | chr2:178611636;178611635;178611634 | chr2:179476363;179476362;179476361 |
| Novex-2 | 7992 | 24199;24200;24201 | chr2:178611636;178611635;178611634 | chr2:179476363;179476362;179476361 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/R | rs1191765707  |
-0.809 | 0.968 | N | 0.585 | 0.341 | 0.500994481783 | gnomAD-2.1.1 | 1.79E-05 | None | None | None | None | N | None | 4.14E-05 | 0 | None | 0 | 2.06868E-04 | None | 0 | None | 0 | 0 | 0 |
| G/R | rs1191765707 |
-0.809 | 0.968 | N | 0.585 | 0.341 | 0.500994481783 | gnomAD-3.1.2 | 3.29E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 9.74279E-04 | None | 0 | 0 | 0 | 0 | 0 |
| G/R | rs1191765707 |
-0.809 | 0.968 | N | 0.585 | 0.341 | 0.500994481783 | gnomAD-4.0.0 | 4.33964E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.56607E-04 | None | 0 | 0 | 0 | 0 | 0 |
| G/W | None | None | 0.999 | N | 0.568 | 0.33 | 0.520749599713 | gnomAD-4.0.0 | 1.36902E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79951E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.147 | likely_benign | 0.2146 | benign | -0.899 | Destabilizing | 0.103 | N | 0.278 | neutral | N | 0.446377296 | None | None | N |
| G/C | 0.3075 | likely_benign | 0.4658 | ambiguous | -0.94 | Destabilizing | 0.999 | D | 0.638 | neutral | None | None | None | None | N |
| G/D | 0.3924 | ambiguous | 0.5905 | pathogenic | -1.938 | Destabilizing | 0.976 | D | 0.524 | neutral | None | None | None | None | N |
| G/E | 0.4239 | ambiguous | 0.6378 | pathogenic | -1.987 | Destabilizing | 0.968 | D | 0.554 | neutral | N | 0.471033979 | None | None | N |
| G/F | 0.7677 | likely_pathogenic | 0.9065 | pathogenic | -1.174 | Destabilizing | 0.996 | D | 0.654 | neutral | None | None | None | None | N |
| G/H | 0.6086 | likely_pathogenic | 0.7811 | pathogenic | -1.587 | Destabilizing | 0.999 | D | 0.571 | neutral | None | None | None | None | N |
| G/I | 0.566 | likely_pathogenic | 0.7818 | pathogenic | -0.462 | Destabilizing | 0.988 | D | 0.646 | neutral | None | None | None | None | N |
| G/K | 0.6745 | likely_pathogenic | 0.8489 | pathogenic | -1.564 | Destabilizing | 0.976 | D | 0.551 | neutral | None | None | None | None | N |
| G/L | 0.577 | likely_pathogenic | 0.7872 | pathogenic | -0.462 | Destabilizing | 0.976 | D | 0.609 | neutral | None | None | None | None | N |
| G/M | 0.6599 | likely_pathogenic | 0.832 | pathogenic | -0.212 | Destabilizing | 0.999 | D | 0.641 | neutral | None | None | None | None | N |
| G/N | 0.3671 | ambiguous | 0.5662 | pathogenic | -1.231 | Destabilizing | 0.976 | D | 0.54 | neutral | None | None | None | None | N |
| G/P | 0.9689 | likely_pathogenic | 0.9868 | pathogenic | -0.568 | Destabilizing | 0.988 | D | 0.583 | neutral | None | None | None | None | N |
| G/Q | 0.5398 | ambiguous | 0.722 | pathogenic | -1.433 | Destabilizing | 0.988 | D | 0.573 | neutral | None | None | None | None | N |
| G/R | 0.5383 | ambiguous | 0.7199 | pathogenic | -1.168 | Destabilizing | 0.968 | D | 0.585 | neutral | N | 0.440370956 | None | None | N |
| G/S | 0.0868 | likely_benign | 0.116 | benign | -1.406 | Destabilizing | 0.06 | N | 0.278 | neutral | None | None | None | None | N |
| G/T | 0.1921 | likely_benign | 0.2999 | benign | -1.396 | Destabilizing | 0.851 | D | 0.543 | neutral | None | None | None | None | N |
| G/V | 0.3777 | ambiguous | 0.5833 | pathogenic | -0.568 | Destabilizing | 0.968 | D | 0.606 | neutral | N | 0.487599567 | None | None | N |
| G/W | 0.7328 | likely_pathogenic | 0.8434 | pathogenic | -1.593 | Destabilizing | 0.999 | D | 0.568 | neutral | N | 0.48802624 | None | None | N |
| G/Y | 0.6912 | likely_pathogenic | 0.8614 | pathogenic | -1.221 | Destabilizing | 0.996 | D | 0.655 | 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.