Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 7664 | 23215;23216;23217 | chr2:178721029;178721028;178721027 | chr2:179585756;179585755;179585754 |
| N2AB | 7347 | 22264;22265;22266 | chr2:178721029;178721028;178721027 | chr2:179585756;179585755;179585754 |
| N2A | 6420 | 19483;19484;19485 | chr2:178721029;178721028;178721027 | chr2:179585756;179585755;179585754 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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/S | rs886042147  |
None | 0.997 | N | 0.595 | 0.304 | 0.219573609325 | gnomAD-4.0.0 | 6.84437E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 1.65728E-05 |
| A/T | None | None | 1.0 | N | 0.711 | 0.361 | 0.257292322809 | gnomAD-4.0.0 | 6.84437E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99779E-07 | 0 | 0 |
| A/V | rs887438313 |
None | 1.0 | N | 0.627 | 0.363 | 0.391470661076 | gnomAD-4.0.0 | 2.73776E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.59912E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.8126 | likely_pathogenic | 0.8025 | pathogenic | -0.559 | Destabilizing | 1.0 | D | 0.722 | prob.delet. | None | None | None | None | N |
| A/D | 0.9913 | likely_pathogenic | 0.9928 | pathogenic | -1.975 | Destabilizing | 1.0 | D | 0.834 | deleterious | None | None | None | None | N |
| A/E | 0.982 | likely_pathogenic | 0.9862 | pathogenic | -1.725 | Destabilizing | 1.0 | D | 0.797 | deleterious | N | 0.472835318 | None | None | N |
| A/F | 0.8264 | likely_pathogenic | 0.8555 | pathogenic | -0.36 | Destabilizing | 1.0 | D | 0.848 | deleterious | None | None | None | None | N |
| A/G | 0.3456 | ambiguous | 0.3514 | ambiguous | -1.218 | Destabilizing | 0.998 | D | 0.59 | neutral | N | 0.47494895 | None | None | N |
| A/H | 0.9788 | likely_pathogenic | 0.9815 | pathogenic | -1.9 | Destabilizing | 1.0 | D | 0.822 | deleterious | None | None | None | None | N |
| A/I | 0.7082 | likely_pathogenic | 0.7615 | pathogenic | 0.756 | Stabilizing | 1.0 | D | 0.816 | deleterious | None | None | None | None | N |
| A/K | 0.9935 | likely_pathogenic | 0.9952 | pathogenic | -0.659 | Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | N |
| A/L | 0.5325 | ambiguous | 0.5937 | pathogenic | 0.756 | Stabilizing | 1.0 | D | 0.733 | prob.delet. | None | None | None | None | N |
| A/M | 0.7103 | likely_pathogenic | 0.7524 | pathogenic | 0.453 | Stabilizing | 1.0 | D | 0.778 | deleterious | None | None | None | None | N |
| A/N | 0.9688 | likely_pathogenic | 0.9729 | pathogenic | -1.075 | Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | N |
| A/P | 0.9696 | likely_pathogenic | 0.9643 | pathogenic | 0.319 | Stabilizing | 1.0 | D | 0.816 | deleterious | N | 0.482052029 | None | None | N |
| A/Q | 0.9628 | likely_pathogenic | 0.9687 | pathogenic | -0.762 | Destabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | N |
| A/R | 0.9804 | likely_pathogenic | 0.984 | pathogenic | -1.037 | Destabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | N |
| A/S | 0.3435 | ambiguous | 0.3568 | ambiguous | -1.467 | Destabilizing | 0.997 | D | 0.595 | neutral | N | 0.481122774 | None | None | N |
| A/T | 0.4835 | ambiguous | 0.5587 | ambiguous | -1.075 | Destabilizing | 1.0 | D | 0.711 | prob.delet. | N | 0.455905924 | None | None | N |
| A/V | 0.3946 | ambiguous | 0.45 | ambiguous | 0.319 | Stabilizing | 1.0 | D | 0.627 | neutral | N | 0.489531614 | None | None | N |
| A/W | 0.9883 | likely_pathogenic | 0.99 | pathogenic | -1.265 | Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | N |
| A/Y | 0.9431 | likely_pathogenic | 0.9519 | pathogenic | -0.595 | Destabilizing | 1.0 | D | 0.846 | 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.