Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 27929 | 84010;84011;84012 | chr2:178562347;178562346;178562345 | chr2:179427074;179427073;179427072 |
| N2AB | 26288 | 79087;79088;79089 | chr2:178562347;178562346;178562345 | chr2:179427074;179427073;179427072 |
| N2A | 25361 | 76306;76307;76308 | chr2:178562347;178562346;178562345 | chr2:179427074;179427073;179427072 |
| N2B | 18864 | 56815;56816;56817 | chr2:178562347;178562346;178562345 | chr2:179427074;179427073;179427072 |
| Novex-1 | 18989 | 57190;57191;57192 | chr2:178562347;178562346;178562345 | chr2:179427074;179427073;179427072 |
| Novex-2 | 19056 | 57391;57392;57393 | chr2:178562347;178562346;178562345 | chr2:179427074;179427073;179427072 |
| 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/E | rs1273912998  |
-1.263 | 0.704 | N | 0.644 | 0.432 | 0.384584525793 | gnomAD-2.1.1 | 1.22E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 2.69E-05 | 0 |
| G/E | rs1273912998 |
-1.263 | 0.704 | N | 0.644 | 0.432 | 0.384584525793 | gnomAD-4.0.0 | 1.09671E-05 | None | None | None | None | N | None | 0 | 2.25124E-05 | None | 0 | 0 | None | 0 | 0 | 1.35033E-05 | 0 | 0 |
| G/R | rs786205297 |
-0.657 | 0.998 | N | 0.856 | 0.471 | 0.587992605178 | gnomAD-2.1.1 | 1.63E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.6E-05 | None | 0 | None | 0 | 2.69E-05 | 0 |
| G/R | rs786205297 |
-0.657 | 0.998 | N | 0.856 | 0.471 | 0.587992605178 | gnomAD-4.0.0 | 1.57664E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.52181E-05 | None | 0 | 0 | 1.98059E-05 | 0 | 0 |
| G/V | None | None | 0.999 | D | 0.849 | 0.487 | 0.578198000816 | gnomAD-4.0.0 | 6.85441E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.00223E-07 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.3227 | likely_benign | 0.4063 | ambiguous | -0.506 | Destabilizing | 0.962 | D | 0.669 | neutral | N | 0.482304833 | None | None | N |
| G/C | 0.4949 | ambiguous | 0.5912 | pathogenic | -0.917 | Destabilizing | 1.0 | D | 0.848 | deleterious | None | None | None | None | N |
| G/D | 0.34 | likely_benign | 0.4099 | ambiguous | -0.773 | Destabilizing | 0.992 | D | 0.745 | deleterious | None | None | None | None | N |
| G/E | 0.4111 | ambiguous | 0.5131 | ambiguous | -0.922 | Destabilizing | 0.704 | D | 0.644 | neutral | N | 0.484115258 | None | None | N |
| G/F | 0.7951 | likely_pathogenic | 0.8444 | pathogenic | -1.107 | Destabilizing | 1.0 | D | 0.848 | deleterious | None | None | None | None | N |
| G/H | 0.5878 | likely_pathogenic | 0.6617 | pathogenic | -0.804 | Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | N |
| G/I | 0.8055 | likely_pathogenic | 0.8814 | pathogenic | -0.523 | Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | N |
| G/K | 0.608 | likely_pathogenic | 0.69 | pathogenic | -1.063 | Destabilizing | 0.997 | D | 0.835 | deleterious | None | None | None | None | N |
| G/L | 0.6811 | likely_pathogenic | 0.7571 | pathogenic | -0.523 | Destabilizing | 0.998 | D | 0.849 | deleterious | None | None | None | None | N |
| G/M | 0.6975 | likely_pathogenic | 0.7759 | pathogenic | -0.472 | Destabilizing | 1.0 | D | 0.844 | deleterious | None | None | None | None | N |
| G/N | 0.3132 | likely_benign | 0.3726 | ambiguous | -0.673 | Destabilizing | 0.998 | D | 0.83 | deleterious | None | None | None | None | N |
| G/P | 0.9778 | likely_pathogenic | 0.9829 | pathogenic | -0.481 | Destabilizing | 0.998 | D | 0.856 | deleterious | None | None | None | None | N |
| G/Q | 0.4735 | ambiguous | 0.5616 | ambiguous | -0.971 | Destabilizing | 0.997 | D | 0.857 | deleterious | None | None | None | None | N |
| G/R | 0.4488 | ambiguous | 0.5483 | ambiguous | -0.584 | Destabilizing | 0.998 | D | 0.856 | deleterious | N | 0.520919653 | None | None | N |
| G/S | 0.1685 | likely_benign | 0.2075 | benign | -0.845 | Destabilizing | 0.991 | D | 0.807 | deleterious | None | None | None | None | N |
| G/T | 0.4056 | ambiguous | 0.4974 | ambiguous | -0.927 | Destabilizing | 0.998 | D | 0.848 | deleterious | None | None | None | None | N |
| G/V | 0.6632 | likely_pathogenic | 0.7702 | pathogenic | -0.481 | Destabilizing | 0.999 | D | 0.849 | deleterious | D | 0.524642636 | None | None | N |
| G/W | 0.6185 | likely_pathogenic | 0.7019 | pathogenic | -1.278 | Destabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | None | N |
| G/Y | 0.6682 | likely_pathogenic | 0.7409 | pathogenic | -0.938 | Destabilizing | 1.0 | D | 0.847 | 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.