Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 31834 | 95725;95726;95727 | chr2:178545610;178545609;178545608 | chr2:179410337;179410336;179410335 |
| N2AB | 30193 | 90802;90803;90804 | chr2:178545610;178545609;178545608 | chr2:179410337;179410336;179410335 |
| N2A | 29266 | 88021;88022;88023 | chr2:178545610;178545609;178545608 | chr2:179410337;179410336;179410335 |
| N2B | 22769 | 68530;68531;68532 | chr2:178545610;178545609;178545608 | chr2:179410337;179410336;179410335 |
| Novex-1 | 22894 | 68905;68906;68907 | chr2:178545610;178545609;178545608 | chr2:179410337;179410336;179410335 |
| Novex-2 | 22961 | 69106;69107;69108 | chr2:178545610;178545609;178545608 | chr2:179410337;179410336;179410335 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | rs902706151  |
0.421 | 1.0 | N | 0.713 | 0.617 | 0.638423685107 | gnomAD-2.1.1 | 7.13E-06 | None | None | None | None | N | None | 8.27E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| D/A | rs902706151 |
0.421 | 1.0 | N | 0.713 | 0.617 | 0.638423685107 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 4.83E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| D/A | rs902706151 |
0.421 | 1.0 | N | 0.713 | 0.617 | 0.638423685107 | gnomAD-4.0.0 | 3.84336E-06 | None | None | None | None | N | None | 5.07391E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| D/H | None | None | 1.0 | N | 0.671 | 0.605 | 0.473458370588 | gnomAD-4.0.0 | 1.5914E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85871E-06 | 0 | 0 |
| D/Y | rs1696707547 |
None | 1.0 | D | 0.667 | 0.638 | 0.813158394459 | gnomAD-4.0.0 | 1.5914E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43295E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.7766 | likely_pathogenic | 0.8258 | pathogenic | -0.343 | Destabilizing | 1.0 | D | 0.713 | prob.delet. | N | 0.504578781 | None | None | N |
| D/C | 0.9505 | likely_pathogenic | 0.9573 | pathogenic | 0.172 | Stabilizing | 1.0 | D | 0.69 | prob.neutral | None | None | None | None | N |
| D/E | 0.8271 | likely_pathogenic | 0.8404 | pathogenic | -0.561 | Destabilizing | 1.0 | D | 0.474 | neutral | N | 0.506856506 | None | None | N |
| D/F | 0.9692 | likely_pathogenic | 0.9757 | pathogenic | -0.605 | Destabilizing | 1.0 | D | 0.687 | prob.neutral | None | None | None | None | N |
| D/G | 0.753 | likely_pathogenic | 0.7956 | pathogenic | -0.572 | Destabilizing | 1.0 | D | 0.683 | prob.neutral | D | 0.522722716 | None | None | N |
| D/H | 0.8889 | likely_pathogenic | 0.9073 | pathogenic | -0.908 | Destabilizing | 1.0 | D | 0.671 | neutral | N | 0.50533925 | None | None | N |
| D/I | 0.9459 | likely_pathogenic | 0.946 | pathogenic | 0.222 | Stabilizing | 1.0 | D | 0.692 | prob.neutral | None | None | None | None | N |
| D/K | 0.9552 | likely_pathogenic | 0.9632 | pathogenic | 0.188 | Stabilizing | 1.0 | D | 0.747 | deleterious | None | None | None | None | N |
| D/L | 0.9273 | likely_pathogenic | 0.941 | pathogenic | 0.222 | Stabilizing | 1.0 | D | 0.711 | prob.delet. | None | None | None | None | N |
| D/M | 0.971 | likely_pathogenic | 0.976 | pathogenic | 0.676 | Stabilizing | 1.0 | D | 0.681 | prob.neutral | None | None | None | None | N |
| D/N | 0.1929 | likely_benign | 0.1884 | benign | -0.065 | Destabilizing | 1.0 | D | 0.689 | prob.neutral | N | 0.498261032 | None | None | N |
| D/P | 0.9604 | likely_pathogenic | 0.9722 | pathogenic | 0.057 | Stabilizing | 1.0 | D | 0.751 | deleterious | None | None | None | None | N |
| D/Q | 0.9396 | likely_pathogenic | 0.9523 | pathogenic | -0.031 | Destabilizing | 1.0 | D | 0.751 | deleterious | None | None | None | None | N |
| D/R | 0.9543 | likely_pathogenic | 0.9638 | pathogenic | 0.072 | Stabilizing | 1.0 | D | 0.719 | prob.delet. | None | None | None | None | N |
| D/S | 0.4039 | ambiguous | 0.4507 | ambiguous | -0.199 | Destabilizing | 1.0 | D | 0.7 | prob.neutral | None | None | None | None | N |
| D/T | 0.6266 | likely_pathogenic | 0.6547 | pathogenic | -0.013 | Destabilizing | 1.0 | D | 0.749 | deleterious | None | None | None | None | N |
| D/V | 0.867 | likely_pathogenic | 0.8691 | pathogenic | 0.057 | Stabilizing | 1.0 | D | 0.721 | prob.delet. | N | 0.521455269 | None | None | N |
| D/W | 0.994 | likely_pathogenic | 0.9955 | pathogenic | -0.582 | Destabilizing | 1.0 | D | 0.673 | neutral | None | None | None | None | N |
| D/Y | 0.842 | likely_pathogenic | 0.8669 | pathogenic | -0.388 | Destabilizing | 1.0 | D | 0.667 | neutral | D | 0.545599911 | 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.