Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 28736 | 86431;86432;86433 | chr2:178559926;178559925;178559924 | chr2:179424653;179424652;179424651 |
| N2AB | 27095 | 81508;81509;81510 | chr2:178559926;178559925;178559924 | chr2:179424653;179424652;179424651 |
| N2A | 26168 | 78727;78728;78729 | chr2:178559926;178559925;178559924 | chr2:179424653;179424652;179424651 |
| N2B | 19671 | 59236;59237;59238 | chr2:178559926;178559925;178559924 | chr2:179424653;179424652;179424651 |
| Novex-1 | 19796 | 59611;59612;59613 | chr2:178559926;178559925;178559924 | chr2:179424653;179424652;179424651 |
| Novex-2 | 19863 | 59812;59813;59814 | chr2:178559926;178559925;178559924 | chr2:179424653;179424652;179424651 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/L | rs1457797876  |
-0.776 | 1.0 | N | 0.821 | 0.453 | 0.701836728922 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | I | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| P/L | rs1457797876 |
-0.776 | 1.0 | N | 0.821 | 0.453 | 0.701836728922 | gnomAD-4.0.0 | 2.73703E-06 | None | None | None | None | I | None | 0 | 2.23644E-05 | None | 0 | 0 | None | 0 | 0 | 2.69844E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.0866 | likely_benign | 0.0889 | benign | -1.207 | Destabilizing | 1.0 | D | 0.734 | prob.delet. | N | 0.469985978 | None | None | I |
| P/C | 0.4773 | ambiguous | 0.4791 | ambiguous | -0.772 | Destabilizing | 1.0 | D | 0.823 | deleterious | None | None | None | None | I |
| P/D | 0.7521 | likely_pathogenic | 0.7044 | pathogenic | -1.051 | Destabilizing | 1.0 | D | 0.754 | deleterious | None | None | None | None | I |
| P/E | 0.5912 | likely_pathogenic | 0.5339 | ambiguous | -1.144 | Destabilizing | 1.0 | D | 0.756 | deleterious | None | None | None | None | I |
| P/F | 0.4857 | ambiguous | 0.4566 | ambiguous | -1.262 | Destabilizing | 1.0 | D | 0.844 | deleterious | None | None | None | None | I |
| P/G | 0.4814 | ambiguous | 0.4786 | ambiguous | -1.406 | Destabilizing | 1.0 | D | 0.784 | deleterious | None | None | None | None | I |
| P/H | 0.3567 | ambiguous | 0.3323 | benign | -0.874 | Destabilizing | 1.0 | D | 0.815 | deleterious | N | 0.50328488 | None | None | I |
| P/I | 0.3973 | ambiguous | 0.3558 | ambiguous | -0.8 | Destabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | I |
| P/K | 0.6995 | likely_pathogenic | 0.6597 | pathogenic | -0.869 | Destabilizing | 1.0 | D | 0.758 | deleterious | None | None | None | None | I |
| P/L | 0.2619 | likely_benign | 0.2273 | benign | -0.8 | Destabilizing | 1.0 | D | 0.821 | deleterious | N | 0.498116639 | None | None | I |
| P/M | 0.4877 | ambiguous | 0.4436 | ambiguous | -0.499 | Destabilizing | 1.0 | D | 0.812 | deleterious | None | None | None | None | I |
| P/N | 0.6519 | likely_pathogenic | 0.6157 | pathogenic | -0.554 | Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | I |
| P/Q | 0.406 | ambiguous | 0.3884 | ambiguous | -0.884 | Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | I |
| P/R | 0.5147 | ambiguous | 0.4875 | ambiguous | -0.23 | Destabilizing | 1.0 | D | 0.851 | deleterious | N | 0.497497982 | None | None | I |
| P/S | 0.1909 | likely_benign | 0.1811 | benign | -0.977 | Destabilizing | 1.0 | D | 0.763 | deleterious | N | 0.490243054 | None | None | I |
| P/T | 0.1997 | likely_benign | 0.1753 | benign | -0.978 | Destabilizing | 1.0 | D | 0.757 | deleterious | N | 0.49248478 | None | None | I |
| P/V | 0.282 | likely_benign | 0.2535 | benign | -0.901 | Destabilizing | 1.0 | D | 0.777 | deleterious | None | None | None | None | I |
| P/W | 0.7273 | likely_pathogenic | 0.7165 | pathogenic | -1.297 | Destabilizing | 1.0 | D | 0.792 | deleterious | None | None | None | None | I |
| P/Y | 0.5275 | ambiguous | 0.5052 | ambiguous | -1.034 | Destabilizing | 1.0 | D | 0.853 | 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.