Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 26256 | 78991;78992;78993 | chr2:178567366;178567365;178567364 | chr2:179432093;179432092;179432091 |
| N2AB | 24615 | 74068;74069;74070 | chr2:178567366;178567365;178567364 | chr2:179432093;179432092;179432091 |
| N2A | 23688 | 71287;71288;71289 | chr2:178567366;178567365;178567364 | chr2:179432093;179432092;179432091 |
| N2B | 17191 | 51796;51797;51798 | chr2:178567366;178567365;178567364 | chr2:179432093;179432092;179432091 |
| Novex-1 | 17316 | 52171;52172;52173 | chr2:178567366;178567365;178567364 | chr2:179432093;179432092;179432091 |
| Novex-2 | 17383 | 52372;52373;52374 | chr2:178567366;178567365;178567364 | chr2:179432093;179432092;179432091 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/G | None | None | 1.0 | D | 0.559 | 0.655 | 0.723355570506 | gnomAD-4.0.0 | 6.93041E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.04889E-07 | 0 | 0 |
| A/P | rs765170810  |
None | 1.0 | N | 0.766 | 0.693 | 0.731461578019 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| A/P | rs765170810 |
None | 1.0 | N | 0.766 | 0.693 | 0.731461578019 | gnomAD-4.0.0 | 6.57402E-06 | None | None | None | None | N | None | 2.41313E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| A/T | rs765170810 |
-1.509 | 1.0 | D | 0.746 | 0.536 | 0.652354097294 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 2.06868E-04 | 0 |
| A/T | rs765170810 |
-1.509 | 1.0 | D | 0.746 | 0.536 | 0.652354097294 | gnomAD-4.0.0 | 3.93976E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.43025E-05 | None | 0 | 0 | 0 | 2.84034E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.4827 | ambiguous | 0.4573 | ambiguous | -1.735 | Destabilizing | 1.0 | D | 0.761 | deleterious | None | None | None | None | N |
| A/D | 0.9889 | likely_pathogenic | 0.9862 | pathogenic | -2.432 | Highly Destabilizing | 1.0 | D | 0.74 | deleterious | None | None | None | None | N |
| A/E | 0.9886 | likely_pathogenic | 0.986 | pathogenic | -2.318 | Highly Destabilizing | 1.0 | D | 0.766 | deleterious | D | 0.552472079 | None | None | N |
| A/F | 0.9758 | likely_pathogenic | 0.9689 | pathogenic | -1.029 | Destabilizing | 1.0 | D | 0.731 | prob.delet. | None | None | None | None | N |
| A/G | 0.4272 | ambiguous | 0.3921 | ambiguous | -1.594 | Destabilizing | 1.0 | D | 0.559 | neutral | D | 0.525720544 | None | None | N |
| A/H | 0.9908 | likely_pathogenic | 0.9892 | pathogenic | -1.735 | Destabilizing | 1.0 | D | 0.687 | prob.neutral | None | None | None | None | N |
| A/I | 0.7412 | likely_pathogenic | 0.6625 | pathogenic | -0.272 | Destabilizing | 1.0 | D | 0.773 | deleterious | None | None | None | None | N |
| A/K | 0.9966 | likely_pathogenic | 0.996 | pathogenic | -1.321 | Destabilizing | 1.0 | D | 0.769 | deleterious | None | None | None | None | N |
| A/L | 0.7539 | likely_pathogenic | 0.6998 | pathogenic | -0.272 | Destabilizing | 1.0 | D | 0.701 | prob.neutral | None | None | None | None | N |
| A/M | 0.7942 | likely_pathogenic | 0.744 | pathogenic | -0.635 | Destabilizing | 1.0 | D | 0.729 | prob.delet. | None | None | None | None | N |
| A/N | 0.9415 | likely_pathogenic | 0.9242 | pathogenic | -1.522 | Destabilizing | 1.0 | D | 0.739 | prob.delet. | None | None | None | None | N |
| A/P | 0.9524 | likely_pathogenic | 0.9431 | pathogenic | -0.548 | Destabilizing | 1.0 | D | 0.766 | deleterious | N | 0.505730184 | None | None | N |
| A/Q | 0.9804 | likely_pathogenic | 0.9776 | pathogenic | -1.513 | Destabilizing | 1.0 | D | 0.764 | deleterious | None | None | None | None | N |
| A/R | 0.9903 | likely_pathogenic | 0.9896 | pathogenic | -1.21 | Destabilizing | 1.0 | D | 0.774 | deleterious | None | None | None | None | N |
| A/S | 0.1797 | likely_benign | 0.1525 | benign | -1.925 | Destabilizing | 1.0 | D | 0.596 | neutral | D | 0.52782987 | None | None | N |
| A/T | 0.2149 | likely_benign | 0.1707 | benign | -1.7 | Destabilizing | 1.0 | D | 0.746 | deleterious | D | 0.538604224 | None | None | N |
| A/V | 0.3544 | ambiguous | 0.2858 | benign | -0.548 | Destabilizing | 1.0 | D | 0.649 | neutral | N | 0.478510196 | None | None | N |
| A/W | 0.998 | likely_pathogenic | 0.9974 | pathogenic | -1.56 | Destabilizing | 1.0 | D | 0.664 | neutral | None | None | None | None | N |
| A/Y | 0.992 | likely_pathogenic | 0.9902 | pathogenic | -1.089 | Destabilizing | 1.0 | D | 0.736 | prob.delet. | 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.