Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 28808 | 86647;86648;86649 | chr2:178559710;178559709;178559708 | chr2:179424437;179424436;179424435 |
| N2AB | 27167 | 81724;81725;81726 | chr2:178559710;178559709;178559708 | chr2:179424437;179424436;179424435 |
| N2A | 26240 | 78943;78944;78945 | chr2:178559710;178559709;178559708 | chr2:179424437;179424436;179424435 |
| N2B | 19743 | 59452;59453;59454 | chr2:178559710;178559709;178559708 | chr2:179424437;179424436;179424435 |
| Novex-1 | 19868 | 59827;59828;59829 | chr2:178559710;178559709;178559708 | chr2:179424437;179424436;179424435 |
| Novex-2 | 19935 | 60028;60029;60030 | chr2:178559710;178559709;178559708 | chr2:179424437;179424436;179424435 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | rs1357418586  |
-1.299 | 0.51 | N | 0.633 | 0.117 | 0.12205267543 | gnomAD-2.1.1 | 7.38E-06 | None | None | None | None | N | None | 8.29E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| T/A | rs1357418586 |
-1.299 | 0.51 | N | 0.633 | 0.117 | 0.12205267543 | 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 |
| T/A | rs1357418586 |
-1.299 | 0.51 | N | 0.633 | 0.117 | 0.12205267543 | gnomAD-4.0.0 | 2.59521E-06 | None | None | None | None | N | None | 3.39374E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| T/I | None | None | 0.946 | N | 0.828 | 0.368 | 0.268660756437 | gnomAD-4.0.0 | 6.88641E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.18315E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.2985 | likely_benign | 0.2999 | benign | -1.266 | Destabilizing | 0.51 | D | 0.633 | neutral | N | 0.459664906 | None | None | N |
| T/C | 0.7605 | likely_pathogenic | 0.77 | pathogenic | -1.0 | Destabilizing | 0.994 | D | 0.833 | deleterious | None | None | None | None | N |
| T/D | 0.9791 | likely_pathogenic | 0.9793 | pathogenic | -2.152 | Highly Destabilizing | 0.959 | D | 0.781 | deleterious | None | None | None | None | N |
| T/E | 0.9874 | likely_pathogenic | 0.9857 | pathogenic | -1.844 | Destabilizing | 0.921 | D | 0.771 | deleterious | None | None | None | None | N |
| T/F | 0.9642 | likely_pathogenic | 0.9626 | pathogenic | -0.851 | Destabilizing | 0.979 | D | 0.852 | deleterious | None | None | None | None | N |
| T/G | 0.7667 | likely_pathogenic | 0.7633 | pathogenic | -1.73 | Destabilizing | 0.769 | D | 0.732 | prob.delet. | None | None | None | None | N |
| T/H | 0.9515 | likely_pathogenic | 0.9513 | pathogenic | -1.769 | Destabilizing | 0.994 | D | 0.857 | deleterious | None | None | None | None | N |
| T/I | 0.866 | likely_pathogenic | 0.8531 | pathogenic | 0.003 | Stabilizing | 0.946 | D | 0.828 | deleterious | N | 0.48086026 | None | None | N |
| T/K | 0.9897 | likely_pathogenic | 0.9877 | pathogenic | -0.213 | Destabilizing | 0.898 | D | 0.773 | deleterious | N | 0.481874218 | None | None | N |
| T/L | 0.7371 | likely_pathogenic | 0.7134 | pathogenic | 0.003 | Stabilizing | 0.87 | D | 0.704 | prob.neutral | None | None | None | None | N |
| T/M | 0.5299 | ambiguous | 0.5028 | ambiguous | -0.299 | Destabilizing | 0.998 | D | 0.829 | deleterious | None | None | None | None | N |
| T/N | 0.7974 | likely_pathogenic | 0.8024 | pathogenic | -1.333 | Destabilizing | 0.921 | D | 0.737 | prob.delet. | None | None | None | None | N |
| T/P | 0.9604 | likely_pathogenic | 0.9631 | pathogenic | -0.393 | Destabilizing | 0.946 | D | 0.826 | deleterious | N | 0.504751413 | None | None | N |
| T/Q | 0.961 | likely_pathogenic | 0.9567 | pathogenic | -0.836 | Destabilizing | 0.959 | D | 0.833 | deleterious | None | None | None | None | N |
| T/R | 0.9858 | likely_pathogenic | 0.9837 | pathogenic | -0.784 | Destabilizing | 0.946 | D | 0.837 | deleterious | N | 0.471643549 | None | None | N |
| T/S | 0.2284 | likely_benign | 0.2287 | benign | -1.509 | Destabilizing | 0.016 | N | 0.503 | neutral | N | 0.467038756 | None | None | N |
| T/V | 0.6693 | likely_pathogenic | 0.6484 | pathogenic | -0.393 | Destabilizing | 0.87 | D | 0.633 | neutral | None | None | None | None | N |
| T/W | 0.9949 | likely_pathogenic | 0.9946 | pathogenic | -1.169 | Destabilizing | 0.998 | D | 0.855 | deleterious | None | None | None | None | N |
| T/Y | 0.9704 | likely_pathogenic | 0.9697 | pathogenic | -0.721 | Destabilizing | 0.979 | D | 0.853 | 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.