Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 29022 | 87289;87290;87291 | chr2:178558395;178558394;178558393 | chr2:179423122;179423121;179423120 |
| N2AB | 27381 | 82366;82367;82368 | chr2:178558395;178558394;178558393 | chr2:179423122;179423121;179423120 |
| N2A | 26454 | 79585;79586;79587 | chr2:178558395;178558394;178558393 | chr2:179423122;179423121;179423120 |
| N2B | 19957 | 60094;60095;60096 | chr2:178558395;178558394;178558393 | chr2:179423122;179423121;179423120 |
| Novex-1 | 20082 | 60469;60470;60471 | chr2:178558395;178558394;178558393 | chr2:179423122;179423121;179423120 |
| Novex-2 | 20149 | 60670;60671;60672 | chr2:178558395;178558394;178558393 | chr2:179423122;179423121;179423120 |
| 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/D | rs1702325734  |
None | 1.0 | D | 0.885 | 0.626 | 0.504848970537 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 0 | 6.55E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/D | rs1702325734 |
None | 1.0 | D | 0.885 | 0.626 | 0.504848970537 | gnomAD-4.0.0 | 2.02998E-06 | None | None | None | None | I | None | 1.74752E-05 | 6.15536E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/V | rs1702325734 |
None | 1.0 | D | 0.855 | 0.657 | 0.866705139298 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/V | rs1702325734 |
None | 1.0 | D | 0.855 | 0.657 | 0.866705139298 | gnomAD-4.0.0 | 6.57376E-06 | None | None | None | None | I | None | 2.41324E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 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 | 0.7085 | likely_pathogenic | 0.7684 | pathogenic | -0.715 | Destabilizing | 1.0 | D | 0.743 | deleterious | D | 0.543287685 | None | None | I |
| G/C | 0.8724 | likely_pathogenic | 0.905 | pathogenic | -0.974 | Destabilizing | 1.0 | D | 0.833 | deleterious | D | 0.567432328 | None | None | I |
| G/D | 0.9358 | likely_pathogenic | 0.9575 | pathogenic | -1.19 | Destabilizing | 1.0 | D | 0.885 | deleterious | D | 0.529449391 | None | None | I |
| G/E | 0.9529 | likely_pathogenic | 0.9664 | pathogenic | -1.33 | Destabilizing | 1.0 | D | 0.871 | deleterious | None | None | None | None | I |
| G/F | 0.9754 | likely_pathogenic | 0.9832 | pathogenic | -1.282 | Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | I |
| G/H | 0.9663 | likely_pathogenic | 0.9791 | pathogenic | -0.993 | Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | I |
| G/I | 0.9739 | likely_pathogenic | 0.9842 | pathogenic | -0.665 | Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | I |
| G/K | 0.9672 | likely_pathogenic | 0.9781 | pathogenic | -1.216 | Destabilizing | 1.0 | D | 0.869 | deleterious | None | None | None | None | I |
| G/L | 0.964 | likely_pathogenic | 0.9779 | pathogenic | -0.665 | Destabilizing | 1.0 | D | 0.842 | deleterious | None | None | None | None | I |
| G/M | 0.9762 | likely_pathogenic | 0.9844 | pathogenic | -0.478 | Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | I |
| G/N | 0.9435 | likely_pathogenic | 0.9612 | pathogenic | -0.833 | Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | I |
| G/P | 0.9975 | likely_pathogenic | 0.9982 | pathogenic | -0.646 | Destabilizing | 1.0 | D | 0.868 | deleterious | None | None | None | None | I |
| G/Q | 0.9417 | likely_pathogenic | 0.9595 | pathogenic | -1.167 | Destabilizing | 1.0 | D | 0.872 | deleterious | None | None | None | None | I |
| G/R | 0.9229 | likely_pathogenic | 0.9472 | pathogenic | -0.684 | Destabilizing | 1.0 | D | 0.876 | deleterious | D | 0.56641837 | None | None | I |
| G/S | 0.5829 | likely_pathogenic | 0.6614 | pathogenic | -1.003 | Destabilizing | 1.0 | D | 0.828 | deleterious | D | 0.547553646 | None | None | I |
| G/T | 0.908 | likely_pathogenic | 0.9363 | pathogenic | -1.085 | Destabilizing | 1.0 | D | 0.871 | deleterious | None | None | None | None | I |
| G/V | 0.9446 | likely_pathogenic | 0.9644 | pathogenic | -0.646 | Destabilizing | 1.0 | D | 0.855 | deleterious | D | 0.532438359 | None | None | I |
| G/W | 0.9692 | likely_pathogenic | 0.9788 | pathogenic | -1.447 | Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | I |
| G/Y | 0.9648 | likely_pathogenic | 0.9754 | pathogenic | -1.122 | Destabilizing | 1.0 | D | 0.853 | deleterious | 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.