Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2973 | 9142;9143;9144 | chr2:178768919;178768918;178768917 | chr2:179633646;179633645;179633644 |
| N2AB | 2973 | 9142;9143;9144 | chr2:178768919;178768918;178768917 | chr2:179633646;179633645;179633644 |
| N2A | 2973 | 9142;9143;9144 | chr2:178768919;178768918;178768917 | chr2:179633646;179633645;179633644 |
| N2B | 2927 | 9004;9005;9006 | chr2:178768919;178768918;178768917 | chr2:179633646;179633645;179633644 |
| Novex-1 | 2927 | 9004;9005;9006 | chr2:178768919;178768918;178768917 | chr2:179633646;179633645;179633644 |
| Novex-2 | 2927 | 9004;9005;9006 | chr2:178768919;178768918;178768917 | chr2:179633646;179633645;179633644 |
| Novex-3 | 2973 | 9142;9143;9144 | chr2:178768919;178768918;178768917 | chr2:179633646;179633645;179633644 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/F | rs1422918590  |
-0.926 | 1.0 | D | 0.803 | 0.524 | 0.816535969511 | gnomAD-2.1.1 | 3.99E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| S/F | rs1422918590 |
-0.926 | 1.0 | D | 0.803 | 0.524 | 0.816535969511 | gnomAD-4.0.0 | 6.36505E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 1.88758E-05 | 0 | 5.71331E-06 | 1.43299E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.1233 | likely_benign | 0.1274 | benign | -0.537 | Destabilizing | 0.997 | D | 0.409 | neutral | D | 0.541971107 | None | None | N |
| S/C | 0.2623 | likely_benign | 0.2852 | benign | -0.457 | Destabilizing | 1.0 | D | 0.749 | deleterious | D | 0.589039986 | None | None | N |
| S/D | 0.5733 | likely_pathogenic | 0.6047 | pathogenic | -0.183 | Destabilizing | 0.999 | D | 0.624 | neutral | None | None | None | None | N |
| S/E | 0.6789 | likely_pathogenic | 0.7097 | pathogenic | -0.221 | Destabilizing | 0.999 | D | 0.617 | neutral | None | None | None | None | N |
| S/F | 0.6347 | likely_pathogenic | 0.6465 | pathogenic | -0.834 | Destabilizing | 1.0 | D | 0.803 | deleterious | D | 0.589039986 | None | None | N |
| S/G | 0.1846 | likely_benign | 0.1724 | benign | -0.745 | Destabilizing | 0.999 | D | 0.522 | neutral | None | None | None | None | N |
| S/H | 0.5337 | ambiguous | 0.5441 | ambiguous | -1.278 | Destabilizing | 1.0 | D | 0.781 | deleterious | None | None | None | None | N |
| S/I | 0.676 | likely_pathogenic | 0.6864 | pathogenic | -0.103 | Destabilizing | 1.0 | D | 0.798 | deleterious | None | None | None | None | N |
| S/K | 0.8197 | likely_pathogenic | 0.8345 | pathogenic | -0.733 | Destabilizing | 0.999 | D | 0.615 | neutral | None | None | None | None | N |
| S/L | 0.3333 | likely_benign | 0.3291 | benign | -0.103 | Destabilizing | 1.0 | D | 0.692 | prob.neutral | None | None | None | None | N |
| S/M | 0.4938 | ambiguous | 0.5123 | ambiguous | 0.144 | Stabilizing | 1.0 | D | 0.779 | deleterious | None | None | None | None | N |
| S/N | 0.2336 | likely_benign | 0.2289 | benign | -0.611 | Destabilizing | 0.999 | D | 0.585 | neutral | None | None | None | None | N |
| S/P | 0.9823 | likely_pathogenic | 0.9795 | pathogenic | -0.214 | Destabilizing | 1.0 | D | 0.804 | deleterious | D | 0.588100865 | None | None | N |
| S/Q | 0.6673 | likely_pathogenic | 0.6696 | pathogenic | -0.805 | Destabilizing | 1.0 | D | 0.733 | prob.delet. | None | None | None | None | N |
| S/R | 0.7668 | likely_pathogenic | 0.7753 | pathogenic | -0.572 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | N |
| S/T | 0.1204 | likely_benign | 0.1262 | benign | -0.638 | Destabilizing | 0.999 | D | 0.499 | neutral | N | 0.492162138 | None | None | N |
| S/V | 0.5407 | ambiguous | 0.5482 | ambiguous | -0.214 | Destabilizing | 1.0 | D | 0.781 | deleterious | None | None | None | None | N |
| S/W | 0.7816 | likely_pathogenic | 0.7725 | pathogenic | -0.822 | Destabilizing | 1.0 | D | 0.765 | deleterious | None | None | None | None | N |
| S/Y | 0.453 | ambiguous | 0.4675 | ambiguous | -0.56 | Destabilizing | 1.0 | D | 0.802 | deleterious | D | 0.54630057 | 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.