Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2229 | 6910;6911;6912 | chr2:178775026;178775025;178775024 | chr2:179639753;179639752;179639751 |
| N2AB | 2229 | 6910;6911;6912 | chr2:178775026;178775025;178775024 | chr2:179639753;179639752;179639751 |
| N2A | 2229 | 6910;6911;6912 | chr2:178775026;178775025;178775024 | chr2:179639753;179639752;179639751 |
| N2B | 2183 | 6772;6773;6774 | chr2:178775026;178775025;178775024 | chr2:179639753;179639752;179639751 |
| Novex-1 | 2183 | 6772;6773;6774 | chr2:178775026;178775025;178775024 | chr2:179639753;179639752;179639751 |
| Novex-2 | 2183 | 6772;6773;6774 | chr2:178775026;178775025;178775024 | chr2:179639753;179639752;179639751 |
| Novex-3 | 2229 | 6910;6911;6912 | chr2:178775026;178775025;178775024 | chr2:179639753;179639752;179639751 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| H/Y | rs56851316  |
0.538 | 0.999 | D | 0.635 | 0.574 | 0.484329738948 | gnomAD-2.1.1 | 3.98E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.45E-05 | None | 0 | None | 0 | 0 | 0 |
| H/Y | rs56851316 |
0.538 | 0.999 | D | 0.635 | 0.574 | 0.484329738948 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 1.92382E-04 | None | 0 | 0 | 0 | 0 | 0 |
| H/Y | rs56851316 |
0.538 | 0.999 | D | 0.635 | 0.574 | 0.484329738948 | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 1E-03 | 0 | None | None | None | 0 | None |
| H/Y | rs56851316 |
0.538 | 0.999 | D | 0.635 | 0.574 | 0.484329738948 | gnomAD-4.0.0 | 2.56119E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 4.85366E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| H/A | 0.9134 | likely_pathogenic | 0.9301 | pathogenic | -1.775 | Destabilizing | 0.999 | D | 0.742 | deleterious | None | None | None | None | N |
| H/C | 0.5075 | ambiguous | 0.5539 | ambiguous | -1.106 | Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | N |
| H/D | 0.957 | likely_pathogenic | 0.9682 | pathogenic | -1.763 | Destabilizing | 1.0 | D | 0.776 | deleterious | D | 0.641631535 | None | None | N |
| H/E | 0.9676 | likely_pathogenic | 0.9741 | pathogenic | -1.554 | Destabilizing | 0.999 | D | 0.597 | neutral | None | None | None | None | N |
| H/F | 0.7212 | likely_pathogenic | 0.7548 | pathogenic | 0.136 | Stabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | N |
| H/G | 0.9537 | likely_pathogenic | 0.9643 | pathogenic | -2.179 | Highly Destabilizing | 0.999 | D | 0.766 | deleterious | None | None | None | None | N |
| H/I | 0.8907 | likely_pathogenic | 0.9109 | pathogenic | -0.567 | Destabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | N |
| H/K | 0.9324 | likely_pathogenic | 0.9419 | pathogenic | -0.937 | Destabilizing | 1.0 | D | 0.773 | deleterious | None | None | None | None | N |
| H/L | 0.5953 | likely_pathogenic | 0.6463 | pathogenic | -0.567 | Destabilizing | 1.0 | D | 0.825 | deleterious | N | 0.503925351 | None | None | N |
| H/M | 0.9257 | likely_pathogenic | 0.9372 | pathogenic | -0.895 | Destabilizing | 1.0 | D | 0.834 | deleterious | None | None | None | None | N |
| H/N | 0.5038 | ambiguous | 0.559 | ambiguous | -1.704 | Destabilizing | 0.999 | D | 0.617 | neutral | D | 0.601998483 | None | None | N |
| H/P | 0.982 | likely_pathogenic | 0.9872 | pathogenic | -0.963 | Destabilizing | 1.0 | D | 0.845 | deleterious | D | 0.590396931 | None | None | N |
| H/Q | 0.7866 | likely_pathogenic | 0.8127 | pathogenic | -1.289 | Destabilizing | 1.0 | D | 0.743 | deleterious | D | 0.525613261 | None | None | N |
| H/R | 0.6534 | likely_pathogenic | 0.6856 | pathogenic | -0.999 | Destabilizing | 1.0 | D | 0.711 | prob.delet. | N | 0.492761864 | None | None | N |
| H/S | 0.8113 | likely_pathogenic | 0.8405 | pathogenic | -1.914 | Destabilizing | 1.0 | D | 0.769 | deleterious | None | None | None | None | N |
| H/T | 0.908 | likely_pathogenic | 0.9273 | pathogenic | -1.586 | Destabilizing | 1.0 | D | 0.822 | deleterious | None | None | None | None | N |
| H/V | 0.8627 | likely_pathogenic | 0.8868 | pathogenic | -0.963 | Destabilizing | 1.0 | D | 0.85 | deleterious | None | None | None | None | N |
| H/W | 0.8535 | likely_pathogenic | 0.8696 | pathogenic | 0.724 | Stabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | N |
| H/Y | 0.3246 | likely_benign | 0.366 | ambiguous | 0.507 | Stabilizing | 0.999 | D | 0.635 | neutral | D | 0.544247747 | 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.