Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 35366 | 106321;106322;106323 | chr2:178530519;178530518;178530517 | chr2:179395246;179395245;179395244 |
| N2AB | 33725 | 101398;101399;101400 | chr2:178530519;178530518;178530517 | chr2:179395246;179395245;179395244 |
| N2A | 32798 | 98617;98618;98619 | chr2:178530519;178530518;178530517 | chr2:179395246;179395245;179395244 |
| N2B | 26301 | 79126;79127;79128 | chr2:178530519;178530518;178530517 | chr2:179395246;179395245;179395244 |
| Novex-1 | 26426 | 79501;79502;79503 | chr2:178530519;178530518;178530517 | chr2:179395246;179395245;179395244 |
| Novex-2 | 26493 | 79702;79703;79704 | chr2:178530519;178530518;178530517 | chr2:179395246;179395245;179395244 |
| 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 | None | None | 1.0 | D | 0.812 | 0.763 | 0.758546266038 | gnomAD-4.0.0 | 1.59094E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85753E-06 | 0 | 0 |
| G/R | rs1267912817  |
0.092 | 1.0 | D | 0.815 | 0.777 | 0.828979982932 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.87E-06 | 0 |
| G/R | rs1267912817 |
0.092 | 1.0 | D | 0.815 | 0.777 | 0.828979982932 | gnomAD-4.0.0 | 1.59092E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85755E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.2751 | likely_benign | 0.2768 | benign | -0.102 | Destabilizing | 1.0 | D | 0.665 | neutral | D | 0.575066056 | None | None | I |
| G/C | 0.3996 | ambiguous | 0.3922 | ambiguous | -0.804 | Destabilizing | 1.0 | D | 0.777 | deleterious | None | None | None | None | I |
| G/D | 0.3485 | ambiguous | 0.3479 | ambiguous | -0.183 | Destabilizing | 0.921 | D | 0.547 | neutral | None | None | None | None | I |
| G/E | 0.3683 | ambiguous | 0.3519 | ambiguous | -0.338 | Destabilizing | 1.0 | D | 0.812 | deleterious | D | 0.547159842 | None | None | I |
| G/F | 0.7352 | likely_pathogenic | 0.7323 | pathogenic | -0.884 | Destabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | I |
| G/H | 0.6493 | likely_pathogenic | 0.6373 | pathogenic | -0.295 | Destabilizing | 1.0 | D | 0.808 | deleterious | None | None | None | None | I |
| G/I | 0.5068 | ambiguous | 0.4913 | ambiguous | -0.362 | Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | I |
| G/K | 0.591 | likely_pathogenic | 0.5701 | pathogenic | -0.351 | Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | I |
| G/L | 0.6911 | likely_pathogenic | 0.6884 | pathogenic | -0.362 | Destabilizing | 1.0 | D | 0.783 | deleterious | None | None | None | None | I |
| G/M | 0.6858 | likely_pathogenic | 0.6729 | pathogenic | -0.444 | Destabilizing | 1.0 | D | 0.756 | deleterious | None | None | None | None | I |
| G/N | 0.443 | ambiguous | 0.434 | ambiguous | -0.113 | Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | I |
| G/P | 0.952 | likely_pathogenic | 0.9604 | pathogenic | -0.25 | Destabilizing | 1.0 | D | 0.806 | deleterious | None | None | None | None | I |
| G/Q | 0.4951 | ambiguous | 0.4745 | ambiguous | -0.347 | Destabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | I |
| G/R | 0.4465 | ambiguous | 0.4273 | ambiguous | -0.059 | Destabilizing | 1.0 | D | 0.815 | deleterious | D | 0.588269081 | None | None | I |
| G/S | 0.1559 | likely_benign | 0.1524 | benign | -0.269 | Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | I |
| G/T | 0.3715 | ambiguous | 0.3596 | ambiguous | -0.354 | Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | I |
| G/V | 0.4137 | ambiguous | 0.4075 | ambiguous | -0.25 | Destabilizing | 1.0 | D | 0.786 | deleterious | D | 0.604893855 | None | None | I |
| G/W | 0.662 | likely_pathogenic | 0.6475 | pathogenic | -1.005 | Destabilizing | 1.0 | D | 0.775 | deleterious | None | None | None | None | I |
| G/Y | 0.6387 | likely_pathogenic | 0.6325 | pathogenic | -0.663 | Destabilizing | 1.0 | D | 0.81 | deleterious | None | None | None | None | I |
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.