Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 160 | 703;704;705 | chr2:178800500;178800499;178800498 | chr2:179665227;179665226;179665225 |
| N2AB | 160 | 703;704;705 | chr2:178800500;178800499;178800498 | chr2:179665227;179665226;179665225 |
| N2A | 160 | 703;704;705 | chr2:178800500;178800499;178800498 | chr2:179665227;179665226;179665225 |
| N2B | 160 | 703;704;705 | chr2:178800500;178800499;178800498 | chr2:179665227;179665226;179665225 |
| Novex-1 | 160 | 703;704;705 | chr2:178800500;178800499;178800498 | chr2:179665227;179665226;179665225 |
| Novex-2 | 160 | 703;704;705 | chr2:178800500;178800499;178800498 | chr2:179665227;179665226;179665225 |
| Novex-3 | 160 | 703;704;705 | chr2:178800500;178800499;178800498 | chr2:179665227;179665226;179665225 |
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/C | None | None | 1.0 | D | 0.797 | 0.643 | 0.631214040921 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | -0.255(TCAP) | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 0 |
| S/G | rs1482623810  |
-1.541 | 1.0 | D | 0.617 | 0.546 | 0.408036853922 | gnomAD-2.1.1 | 3.98E-06 | None | None | None | -0.031(TCAP) | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.79E-06 | 0 |
| S/N | None | None | 0.997 | D | 0.619 | 0.358 | 0.363158594168 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | -0.552(TCAP) | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.2139 | likely_benign | 0.2175 | benign | -0.942 | Destabilizing | 0.991 | D | 0.529 | neutral | None | None | None | -0.087(TCAP) | N |
| S/C | 0.4177 | ambiguous | 0.3709 | ambiguous | -0.684 | Destabilizing | 1.0 | D | 0.797 | deleterious | D | 0.572762308 | None | -0.255(TCAP) | N |
| S/D | 0.86 | likely_pathogenic | 0.8888 | pathogenic | -0.884 | Destabilizing | 1.0 | D | 0.621 | neutral | None | None | None | -0.22(TCAP) | N |
| S/E | 0.8263 | likely_pathogenic | 0.8635 | pathogenic | -0.708 | Destabilizing | 1.0 | D | 0.618 | neutral | None | None | None | -0.345(TCAP) | N |
| S/F | 0.6197 | likely_pathogenic | 0.6289 | pathogenic | -0.759 | Destabilizing | 1.0 | D | 0.834 | deleterious | None | None | None | -0.261(TCAP) | N |
| S/G | 0.3953 | ambiguous | 0.4218 | ambiguous | -1.329 | Destabilizing | 1.0 | D | 0.617 | neutral | D | 0.582712845 | None | -0.031(TCAP) | N |
| S/H | 0.6218 | likely_pathogenic | 0.6436 | pathogenic | -1.515 | Destabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | 0.452(TCAP) | N |
| S/I | 0.5786 | likely_pathogenic | 0.6038 | pathogenic | 0.037 | Stabilizing | 1.0 | D | 0.786 | deleterious | D | 0.546123105 | None | -0.31(TCAP) | N |
| S/K | 0.9605 | likely_pathogenic | 0.972 | pathogenic | -0.2 | Destabilizing | 1.0 | D | 0.619 | neutral | None | None | None | -0.602(TCAP) | N |
| S/L | 0.3857 | ambiguous | 0.3962 | ambiguous | 0.037 | Stabilizing | 1.0 | D | 0.709 | prob.delet. | None | None | None | -0.31(TCAP) | N |
| S/M | 0.5753 | likely_pathogenic | 0.5754 | pathogenic | -0.09 | Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | -0.034(TCAP) | N |
| S/N | 0.4907 | ambiguous | 0.5443 | ambiguous | -0.762 | Destabilizing | 0.997 | D | 0.619 | neutral | D | 0.555014694 | None | -0.552(TCAP) | N |
| S/P | 0.9908 | likely_pathogenic | 0.9926 | pathogenic | -0.254 | Destabilizing | 1.0 | D | 0.757 | deleterious | None | None | None | -0.227(TCAP) | N |
| S/Q | 0.7707 | likely_pathogenic | 0.8029 | pathogenic | -0.588 | Destabilizing | 1.0 | D | 0.74 | deleterious | None | None | None | -0.523(TCAP) | N |
| S/R | 0.906 | likely_pathogenic | 0.9279 | pathogenic | -0.492 | Destabilizing | 1.0 | D | 0.756 | deleterious | N | 0.509262418 | None | -0.624(TCAP) | N |
| S/T | 0.1808 | likely_benign | 0.1915 | benign | -0.565 | Destabilizing | 0.997 | D | 0.585 | neutral | N | 0.481849509 | None | -0.452(TCAP) | N |
| S/V | 0.5491 | ambiguous | 0.5625 | ambiguous | -0.254 | Destabilizing | 1.0 | D | 0.729 | prob.delet. | None | None | None | -0.227(TCAP) | N |
| S/W | 0.6949 | likely_pathogenic | 0.7057 | pathogenic | -0.865 | Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | -0.267(TCAP) | N |
| S/Y | 0.4616 | ambiguous | 0.4747 | ambiguous | -0.464 | Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | -0.032(TCAP) | 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.