Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 15950 | 48073;48074;48075 | chr2:178617147;178617146;178617145 | chr2:179481874;179481873;179481872 |
| N2AB | 14309 | 43150;43151;43152 | chr2:178617147;178617146;178617145 | chr2:179481874;179481873;179481872 |
| N2A | 13382 | 40369;40370;40371 | chr2:178617147;178617146;178617145 | chr2:179481874;179481873;179481872 |
| N2B | 6885 | 20878;20879;20880 | chr2:178617147;178617146;178617145 | chr2:179481874;179481873;179481872 |
| Novex-1 | 7010 | 21253;21254;21255 | chr2:178617147;178617146;178617145 | chr2:179481874;179481873;179481872 |
| Novex-2 | 7077 | 21454;21455;21456 | chr2:178617147;178617146;178617145 | chr2:179481874;179481873;179481872 |
| 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 | rs1289743625  |
-0.32 | 1.0 | N | 0.881 | 0.346 | 0.176091768786 | gnomAD-2.1.1 | 7.35E-06 | None | None | None | None | N | None | 4.22E-05 | 2.91E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| G/D | rs1289743625 |
-0.32 | 1.0 | N | 0.881 | 0.346 | 0.176091768786 | gnomAD-3.1.2 | 6.59E-06 | None | None | None | None | N | None | 2.42E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/D | rs1289743625 |
-0.32 | 1.0 | N | 0.881 | 0.346 | 0.176091768786 | gnomAD-4.0.0 | 2.58056E-06 | None | None | None | None | N | None | 1.69848E-05 | 1.71462E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/S | None | None | 1.0 | N | 0.829 | 0.36 | 0.16115917748 | gnomAD-4.0.0 | 1.6053E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.45146E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.3912 | ambiguous | 0.3032 | benign | -0.283 | Destabilizing | 0.999 | D | 0.737 | deleterious | N | 0.442752459 | None | None | N |
| G/C | 0.6205 | likely_pathogenic | 0.5292 | ambiguous | -0.814 | Destabilizing | 1.0 | D | 0.705 | prob.delet. | D | 0.589673576 | None | None | N |
| G/D | 0.6977 | likely_pathogenic | 0.5577 | ambiguous | -0.56 | Destabilizing | 1.0 | D | 0.881 | deleterious | N | 0.447546292 | None | None | N |
| G/E | 0.5791 | likely_pathogenic | 0.4519 | ambiguous | -0.639 | Destabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | N |
| G/F | 0.8519 | likely_pathogenic | 0.7509 | pathogenic | -0.684 | Destabilizing | 1.0 | D | 0.742 | deleterious | None | None | None | None | N |
| G/H | 0.8592 | likely_pathogenic | 0.7696 | pathogenic | -0.601 | Destabilizing | 1.0 | D | 0.709 | prob.delet. | None | None | None | None | N |
| G/I | 0.6816 | likely_pathogenic | 0.5548 | ambiguous | -0.116 | Destabilizing | 1.0 | D | 0.77 | deleterious | None | None | None | None | N |
| G/K | 0.8366 | likely_pathogenic | 0.7377 | pathogenic | -0.954 | Destabilizing | 1.0 | D | 0.86 | deleterious | None | None | None | None | N |
| G/L | 0.739 | likely_pathogenic | 0.6199 | pathogenic | -0.116 | Destabilizing | 1.0 | D | 0.778 | deleterious | None | None | None | None | N |
| G/M | 0.8477 | likely_pathogenic | 0.7565 | pathogenic | -0.373 | Destabilizing | 1.0 | D | 0.713 | prob.delet. | None | None | None | None | N |
| G/N | 0.8133 | likely_pathogenic | 0.6781 | pathogenic | -0.738 | Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | N |
| G/P | 0.8801 | likely_pathogenic | 0.8379 | pathogenic | -0.133 | Destabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | N |
| G/Q | 0.7651 | likely_pathogenic | 0.6506 | pathogenic | -0.885 | Destabilizing | 1.0 | D | 0.808 | deleterious | None | None | None | None | N |
| G/R | 0.7888 | likely_pathogenic | 0.6905 | pathogenic | -0.611 | Destabilizing | 1.0 | D | 0.821 | deleterious | N | 0.428189887 | None | None | N |
| G/S | 0.3995 | ambiguous | 0.2985 | benign | -0.939 | Destabilizing | 1.0 | D | 0.829 | deleterious | N | 0.488505102 | None | None | N |
| G/T | 0.5849 | likely_pathogenic | 0.4421 | ambiguous | -0.929 | Destabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | N |
| G/V | 0.5739 | likely_pathogenic | 0.442 | ambiguous | -0.133 | Destabilizing | 1.0 | D | 0.809 | deleterious | N | 0.461570555 | None | None | N |
| G/W | 0.8231 | likely_pathogenic | 0.742 | pathogenic | -0.998 | Destabilizing | 1.0 | D | 0.711 | prob.delet. | None | None | None | None | N |
| G/Y | 0.7917 | likely_pathogenic | 0.6899 | pathogenic | -0.574 | Destabilizing | 1.0 | D | 0.739 | 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.