Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 24532 | 73819;73820;73821 | chr2:178572538;178572537;178572536 | chr2:179437265;179437264;179437263 |
| N2AB | 22891 | 68896;68897;68898 | chr2:178572538;178572537;178572536 | chr2:179437265;179437264;179437263 |
| N2A | 21964 | 66115;66116;66117 | chr2:178572538;178572537;178572536 | chr2:179437265;179437264;179437263 |
| N2B | 15467 | 46624;46625;46626 | chr2:178572538;178572537;178572536 | chr2:179437265;179437264;179437263 |
| Novex-1 | 15592 | 46999;47000;47001 | chr2:178572538;178572537;178572536 | chr2:179437265;179437264;179437263 |
| Novex-2 | 15659 | 47200;47201;47202 | chr2:178572538;178572537;178572536 | chr2:179437265;179437264;179437263 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/I | None | None | 0.999 | N | 0.798 | 0.482 | 0.575346514103 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 0 |
| T/P | rs752664615  |
-0.591 | 0.997 | D | 0.795 | 0.509 | 0.484545746072 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.9E-06 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.1643 | likely_benign | 0.1436 | benign | -0.769 | Destabilizing | 0.744 | D | 0.475 | neutral | N | 0.490099058 | None | None | N |
| T/C | 0.4922 | ambiguous | 0.4685 | ambiguous | -0.535 | Destabilizing | 1.0 | D | 0.728 | prob.delet. | None | None | None | None | N |
| T/D | 0.5165 | ambiguous | 0.4792 | ambiguous | -0.343 | Destabilizing | 0.995 | D | 0.734 | prob.delet. | None | None | None | None | N |
| T/E | 0.5836 | likely_pathogenic | 0.5181 | ambiguous | -0.367 | Destabilizing | 0.999 | D | 0.739 | prob.delet. | None | None | None | None | N |
| T/F | 0.5386 | ambiguous | 0.4749 | ambiguous | -0.993 | Destabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | N |
| T/G | 0.2119 | likely_benign | 0.2095 | benign | -0.986 | Destabilizing | 0.996 | D | 0.653 | neutral | None | None | None | None | N |
| T/H | 0.394 | ambiguous | 0.3745 | ambiguous | -1.339 | Destabilizing | 1.0 | D | 0.764 | deleterious | None | None | None | None | N |
| T/I | 0.5719 | likely_pathogenic | 0.4968 | ambiguous | -0.291 | Destabilizing | 0.999 | D | 0.798 | deleterious | N | 0.514079117 | None | None | N |
| T/K | 0.3146 | likely_benign | 0.2665 | benign | -0.671 | Destabilizing | 0.999 | D | 0.739 | prob.delet. | None | None | None | None | N |
| T/L | 0.1935 | likely_benign | 0.1676 | benign | -0.291 | Destabilizing | 0.996 | D | 0.652 | neutral | None | None | None | None | N |
| T/M | 0.1482 | likely_benign | 0.1313 | benign | 0.079 | Stabilizing | 1.0 | D | 0.747 | deleterious | None | None | None | None | N |
| T/N | 0.1425 | likely_benign | 0.1362 | benign | -0.578 | Destabilizing | 0.993 | D | 0.733 | prob.delet. | N | 0.472751591 | None | None | N |
| T/P | 0.8316 | likely_pathogenic | 0.6977 | pathogenic | -0.42 | Destabilizing | 0.997 | D | 0.795 | deleterious | D | 0.522472908 | None | None | N |
| T/Q | 0.3026 | likely_benign | 0.2688 | benign | -0.842 | Destabilizing | 0.999 | D | 0.787 | deleterious | None | None | None | None | N |
| T/R | 0.3287 | likely_benign | 0.2629 | benign | -0.397 | Destabilizing | 1.0 | D | 0.787 | deleterious | None | None | None | None | N |
| T/S | 0.0979 | likely_benign | 0.098 | benign | -0.835 | Destabilizing | 0.159 | N | 0.355 | neutral | N | 0.449795082 | None | None | N |
| T/V | 0.3972 | ambiguous | 0.3468 | ambiguous | -0.42 | Destabilizing | 0.995 | D | 0.582 | neutral | None | None | None | None | N |
| T/W | 0.8406 | likely_pathogenic | 0.7875 | pathogenic | -0.898 | Destabilizing | 1.0 | D | 0.745 | deleterious | None | None | None | None | N |
| T/Y | 0.568 | likely_pathogenic | 0.5195 | ambiguous | -0.656 | Destabilizing | 1.0 | D | 0.809 | deleterious | 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.