Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 6051 | 18376;18377;18378 | chr2:178730249;178730248;178730247 | chr2:179594976;179594975;179594974 |
| N2AB | 5734 | 17425;17426;17427 | chr2:178730249;178730248;178730247 | chr2:179594976;179594975;179594974 |
| N2A | 4807 | 14644;14645;14646 | chr2:178730249;178730248;178730247 | chr2:179594976;179594975;179594974 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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/D | None | None | 0.999 | D | 0.491 | 0.207 | 0.375861065471 | gnomAD-4.0.0 | 1.59239E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85963E-06 | 0 | 0 |
| E/K | rs532089368  |
-0.438 | 0.999 | D | 0.622 | 0.39 | 0.486135451721 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 2.91E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| E/K | rs532089368 |
-0.438 | 0.999 | D | 0.622 | 0.39 | 0.486135451721 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 6.55E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| E/K | rs532089368 |
-0.438 | 0.999 | D | 0.622 | 0.39 | 0.486135451721 | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 1.4E-03 | None | None | 0 | 0 | None | None | None | 0 | None |
| E/K | rs532089368 |
-0.438 | 0.999 | D | 0.622 | 0.39 | 0.486135451721 | gnomAD-4.0.0 | 2.56354E-06 | None | None | None | None | N | None | 0 | 3.39305E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/A | 0.2389 | likely_benign | 0.2468 | benign | -0.773 | Destabilizing | 0.999 | D | 0.662 | neutral | D | 0.530288598 | None | None | N |
| E/C | 0.9641 | likely_pathogenic | 0.9534 | pathogenic | -0.587 | Destabilizing | 1.0 | D | 0.697 | prob.neutral | None | None | None | None | N |
| E/D | 0.4573 | ambiguous | 0.4554 | ambiguous | -0.86 | Destabilizing | 0.999 | D | 0.491 | neutral | D | 0.527536294 | None | None | N |
| E/F | 0.9318 | likely_pathogenic | 0.9279 | pathogenic | -0.078 | Destabilizing | 1.0 | D | 0.707 | prob.neutral | None | None | None | None | N |
| E/G | 0.5296 | ambiguous | 0.5492 | ambiguous | -1.107 | Destabilizing | 1.0 | D | 0.685 | prob.neutral | N | 0.504547961 | None | None | N |
| E/H | 0.8693 | likely_pathogenic | 0.8664 | pathogenic | -0.039 | Destabilizing | 1.0 | D | 0.614 | neutral | None | None | None | None | N |
| E/I | 0.4869 | ambiguous | 0.457 | ambiguous | 0.135 | Stabilizing | 1.0 | D | 0.731 | prob.delet. | None | None | None | None | N |
| E/K | 0.428 | ambiguous | 0.4678 | ambiguous | -0.606 | Destabilizing | 0.999 | D | 0.622 | neutral | D | 0.534096907 | None | None | N |
| E/L | 0.5399 | ambiguous | 0.5018 | ambiguous | 0.135 | Stabilizing | 1.0 | D | 0.746 | deleterious | None | None | None | None | N |
| E/M | 0.5981 | likely_pathogenic | 0.582 | pathogenic | 0.323 | Stabilizing | 1.0 | D | 0.662 | neutral | None | None | None | None | N |
| E/N | 0.6862 | likely_pathogenic | 0.6946 | pathogenic | -1.111 | Destabilizing | 1.0 | D | 0.69 | prob.neutral | None | None | None | None | N |
| E/P | 0.4584 | ambiguous | 0.4833 | ambiguous | -0.148 | Destabilizing | 1.0 | D | 0.715 | prob.delet. | None | None | None | None | N |
| E/Q | 0.287 | likely_benign | 0.2933 | benign | -0.975 | Destabilizing | 1.0 | D | 0.595 | neutral | N | 0.483757453 | None | None | N |
| E/R | 0.6558 | likely_pathogenic | 0.6886 | pathogenic | -0.138 | Destabilizing | 1.0 | D | 0.685 | prob.neutral | None | None | None | None | N |
| E/S | 0.5967 | likely_pathogenic | 0.6143 | pathogenic | -1.378 | Destabilizing | 0.999 | D | 0.636 | neutral | None | None | None | None | N |
| E/T | 0.5419 | ambiguous | 0.5559 | ambiguous | -1.102 | Destabilizing | 1.0 | D | 0.735 | prob.delet. | None | None | None | None | N |
| E/V | 0.2919 | likely_benign | 0.2728 | benign | -0.148 | Destabilizing | 1.0 | D | 0.733 | prob.delet. | N | 0.487822831 | None | None | N |
| E/W | 0.9825 | likely_pathogenic | 0.983 | pathogenic | 0.204 | Stabilizing | 1.0 | D | 0.701 | prob.neutral | None | None | None | None | N |
| E/Y | 0.8875 | likely_pathogenic | 0.8842 | pathogenic | 0.165 | Stabilizing | 1.0 | D | 0.687 | prob.neutral | 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.