Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 29601 | 89026;89027;89028 | chr2:178554546;178554545;178554544 | chr2:179419273;179419272;179419271 |
| N2AB | 27960 | 84103;84104;84105 | chr2:178554546;178554545;178554544 | chr2:179419273;179419272;179419271 |
| N2A | 27033 | 81322;81323;81324 | chr2:178554546;178554545;178554544 | chr2:179419273;179419272;179419271 |
| N2B | 20536 | 61831;61832;61833 | chr2:178554546;178554545;178554544 | chr2:179419273;179419272;179419271 |
| Novex-1 | 20661 | 62206;62207;62208 | chr2:178554546;178554545;178554544 | chr2:179419273;179419272;179419271 |
| Novex-2 | 20728 | 62407;62408;62409 | chr2:178554546;178554545;178554544 | chr2:179419273;179419272;179419271 |
| 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 | rs773909810  |
-1.378 | 0.909 | N | 0.661 | 0.463 | 0.517432700143 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.89E-06 | 0 |
| G/E | rs773909810 |
-1.378 | 0.909 | N | 0.661 | 0.463 | 0.517432700143 | gnomAD-4.0.0 | 1.59124E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85789E-06 | 0 | 0 |
| G/R | rs1700593834 |
None | 1.0 | D | 0.881 | 0.559 | 0.78574696606 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/R | rs1700593834 |
None | 1.0 | D | 0.881 | 0.559 | 0.78574696606 | gnomAD-4.0.0 | 6.57471E-06 | None | None | None | None | N | None | 2.41476E-05 | 0 | None | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.6812 | likely_pathogenic | 0.6624 | pathogenic | -0.507 | Destabilizing | 0.998 | D | 0.664 | neutral | N | 0.49810491 | None | None | N |
| G/C | 0.7465 | likely_pathogenic | 0.7163 | pathogenic | -0.893 | Destabilizing | 1.0 | D | 0.858 | deleterious | None | None | None | None | N |
| G/D | 0.4531 | ambiguous | 0.3745 | ambiguous | -0.913 | Destabilizing | 0.999 | D | 0.749 | deleterious | None | None | None | None | N |
| G/E | 0.7645 | likely_pathogenic | 0.6985 | pathogenic | -1.052 | Destabilizing | 0.909 | D | 0.661 | neutral | N | 0.494977811 | None | None | N |
| G/F | 0.9606 | likely_pathogenic | 0.9564 | pathogenic | -1.064 | Destabilizing | 1.0 | D | 0.873 | deleterious | None | None | None | None | N |
| G/H | 0.8715 | likely_pathogenic | 0.8454 | pathogenic | -0.839 | Destabilizing | 1.0 | D | 0.858 | deleterious | None | None | None | None | N |
| G/I | 0.9691 | likely_pathogenic | 0.9648 | pathogenic | -0.479 | Destabilizing | 1.0 | D | 0.877 | deleterious | None | None | None | None | N |
| G/K | 0.9525 | likely_pathogenic | 0.937 | pathogenic | -1.179 | Destabilizing | 0.999 | D | 0.859 | deleterious | None | None | None | None | N |
| G/L | 0.9472 | likely_pathogenic | 0.9376 | pathogenic | -0.479 | Destabilizing | 1.0 | D | 0.87 | deleterious | None | None | None | None | N |
| G/M | 0.9435 | likely_pathogenic | 0.9353 | pathogenic | -0.436 | Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | N |
| G/N | 0.3851 | ambiguous | 0.3429 | ambiguous | -0.77 | Destabilizing | 1.0 | D | 0.824 | deleterious | None | None | None | None | N |
| G/P | 0.9969 | likely_pathogenic | 0.9968 | pathogenic | -0.451 | Destabilizing | 1.0 | D | 0.882 | deleterious | None | None | None | None | N |
| G/Q | 0.8518 | likely_pathogenic | 0.8147 | pathogenic | -1.054 | Destabilizing | 1.0 | D | 0.883 | deleterious | None | None | None | None | N |
| G/R | 0.926 | likely_pathogenic | 0.9015 | pathogenic | -0.677 | Destabilizing | 1.0 | D | 0.881 | deleterious | D | 0.524211336 | None | None | N |
| G/S | 0.334 | likely_benign | 0.3032 | benign | -0.928 | Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | N |
| G/T | 0.7641 | likely_pathogenic | 0.7329 | pathogenic | -1.001 | Destabilizing | 1.0 | D | 0.874 | deleterious | None | None | None | None | N |
| G/V | 0.9353 | likely_pathogenic | 0.9259 | pathogenic | -0.451 | Destabilizing | 1.0 | D | 0.869 | deleterious | D | 0.531719754 | None | None | N |
| G/W | 0.8943 | likely_pathogenic | 0.8795 | pathogenic | -1.27 | Destabilizing | 1.0 | D | 0.856 | deleterious | None | None | None | None | N |
| G/Y | 0.8827 | likely_pathogenic | 0.8601 | pathogenic | -0.927 | Destabilizing | 1.0 | D | 0.87 | 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.