Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 4678 | 14257;14258;14259 | chr2:178739201;178739200;178739199 | chr2:179603928;179603927;179603926 |
| N2AB | 4361 | 13306;13307;13308 | chr2:178739201;178739200;178739199 | chr2:179603928;179603927;179603926 |
| N2A | None | None | chr2:None | chr2:None |
| N2B | 4315 | 13168;13169;13170 | chr2:178739201;178739200;178739199 | chr2:179603928;179603927;179603926 |
| Novex-1 | 4440 | 13543;13544;13545 | chr2:178739201;178739200;178739199 | chr2:179603928;179603927;179603926 |
| Novex-2 | 4507 | 13744;13745;13746 | chr2:178739201;178739200;178739199 | chr2:179603928;179603927;179603926 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/A | rs768807991  |
-0.831 | 0.999 | D | 0.691 | 0.459 | None | gnomAD-2.1.1 | 2.97E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.24149E-04 | None | 0 | 0 | 0 |
| E/A | rs768807991 |
-0.831 | 0.999 | D | 0.691 | 0.459 | None | gnomAD-4.0.0 | 9.3372E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.64433E-04 | 1.74331E-05 |
| E/K | rs1361758337 |
-1.121 | 0.999 | N | 0.607 | 0.333 | None | gnomAD-2.1.1 | 4.94E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.05E-05 | 0 |
| E/K | rs1361758337 |
-1.121 | 0.999 | N | 0.607 | 0.333 | None | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| E/K | rs1361758337 |
-1.121 | 0.999 | N | 0.607 | 0.333 | None | gnomAD-4.0.0 | 4.21641E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 7.85016E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/A | 0.308 | likely_benign | 0.3549 | ambiguous | -1.017 | Destabilizing | 0.999 | D | 0.691 | prob.neutral | D | 0.65606959 | None | None | N |
| E/C | 0.9218 | likely_pathogenic | 0.9344 | pathogenic | -0.598 | Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | N |
| E/D | 0.4601 | ambiguous | 0.5189 | ambiguous | -1.341 | Destabilizing | 0.999 | D | 0.605 | neutral | D | 0.618355604 | None | None | N |
| E/F | 0.844 | likely_pathogenic | 0.872 | pathogenic | -0.574 | Destabilizing | 1.0 | D | 0.878 | deleterious | None | None | None | None | N |
| E/G | 0.4587 | ambiguous | 0.5466 | ambiguous | -1.427 | Destabilizing | 1.0 | D | 0.78 | deleterious | D | 0.697679806 | None | None | N |
| E/H | 0.5997 | likely_pathogenic | 0.6579 | pathogenic | -0.952 | Destabilizing | 1.0 | D | 0.733 | prob.delet. | None | None | None | None | N |
| E/I | 0.4619 | ambiguous | 0.4862 | ambiguous | 0.119 | Stabilizing | 1.0 | D | 0.883 | deleterious | None | None | None | None | N |
| E/K | 0.1758 | likely_benign | 0.1938 | benign | -0.96 | Destabilizing | 0.999 | D | 0.607 | neutral | N | 0.505582303 | None | None | N |
| E/L | 0.546 | ambiguous | 0.5992 | pathogenic | 0.119 | Stabilizing | 1.0 | D | 0.836 | deleterious | None | None | None | None | N |
| E/M | 0.5705 | likely_pathogenic | 0.6075 | pathogenic | 0.721 | Stabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | N |
| E/N | 0.5728 | likely_pathogenic | 0.6322 | pathogenic | -1.367 | Destabilizing | 1.0 | D | 0.735 | prob.delet. | None | None | None | None | N |
| E/P | 0.99 | likely_pathogenic | 0.9934 | pathogenic | -0.239 | Destabilizing | 1.0 | D | 0.826 | deleterious | None | None | None | None | N |
| E/Q | 0.1934 | likely_benign | 0.2152 | benign | -1.171 | Destabilizing | 1.0 | D | 0.692 | prob.neutral | D | 0.546155612 | None | None | N |
| E/R | 0.3315 | likely_benign | 0.3692 | ambiguous | -0.792 | Destabilizing | 1.0 | D | 0.743 | deleterious | None | None | None | None | N |
| E/S | 0.3997 | ambiguous | 0.4611 | ambiguous | -1.824 | Destabilizing | 0.999 | D | 0.653 | neutral | None | None | None | None | N |
| E/T | 0.3847 | ambiguous | 0.4336 | ambiguous | -1.469 | Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | N |
| E/V | 0.2695 | likely_benign | 0.2873 | benign | -0.239 | Destabilizing | 1.0 | D | 0.82 | deleterious | N | 0.509845978 | None | None | N |
| E/W | 0.9584 | likely_pathogenic | 0.9671 | pathogenic | -0.43 | Destabilizing | 1.0 | D | 0.856 | deleterious | None | None | None | None | N |
| E/Y | 0.7888 | likely_pathogenic | 0.8171 | pathogenic | -0.338 | Destabilizing | 1.0 | D | 0.865 | 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.