Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 31821 | 95686;95687;95688 | chr2:178545649;178545648;178545647 | chr2:179410376;179410375;179410374 |
| N2AB | 30180 | 90763;90764;90765 | chr2:178545649;178545648;178545647 | chr2:179410376;179410375;179410374 |
| N2A | 29253 | 87982;87983;87984 | chr2:178545649;178545648;178545647 | chr2:179410376;179410375;179410374 |
| N2B | 22756 | 68491;68492;68493 | chr2:178545649;178545648;178545647 | chr2:179410376;179410375;179410374 |
| Novex-1 | 22881 | 68866;68867;68868 | chr2:178545649;178545648;178545647 | chr2:179410376;179410375;179410374 |
| Novex-2 | 22948 | 69067;69068;69069 | chr2:178545649;178545648;178545647 | chr2:179410376;179410375;179410374 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/R | rs372388579  |
-0.242 | 0.999 | N | 0.568 | 0.298 | None | gnomAD-2.1.1 | 2.5E-05 | None | None | None | None | N | None | 2.894E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| K/R | rs372388579 |
-0.242 | 0.999 | N | 0.568 | 0.298 | None | gnomAD-3.1.2 | 6.57E-05 | None | None | None | None | N | None | 2.41231E-04 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| K/R | rs372388579 |
-0.242 | 0.999 | N | 0.568 | 0.298 | None | gnomAD-4.0.0 | 1.17745E-05 | None | None | None | None | N | None | 2.53604E-04 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/A | 0.5138 | ambiguous | 0.4391 | ambiguous | -0.15 | Destabilizing | 0.999 | D | 0.705 | prob.neutral | None | None | None | None | N |
| K/C | 0.774 | likely_pathogenic | 0.7383 | pathogenic | -0.15 | Destabilizing | 1.0 | D | 0.751 | deleterious | None | None | None | None | N |
| K/D | 0.7687 | likely_pathogenic | 0.6855 | pathogenic | -0.168 | Destabilizing | 1.0 | D | 0.773 | deleterious | None | None | None | None | N |
| K/E | 0.3419 | ambiguous | 0.2655 | benign | -0.139 | Destabilizing | 0.999 | D | 0.639 | neutral | N | 0.509261886 | None | None | N |
| K/F | 0.8959 | likely_pathogenic | 0.8682 | pathogenic | -0.16 | Destabilizing | 1.0 | D | 0.743 | deleterious | None | None | None | None | N |
| K/G | 0.517 | ambiguous | 0.4372 | ambiguous | -0.424 | Destabilizing | 1.0 | D | 0.739 | prob.delet. | None | None | None | None | N |
| K/H | 0.5062 | ambiguous | 0.4572 | ambiguous | -0.824 | Destabilizing | 1.0 | D | 0.681 | prob.neutral | None | None | None | None | N |
| K/I | 0.5986 | likely_pathogenic | 0.543 | ambiguous | 0.517 | Stabilizing | 1.0 | D | 0.767 | deleterious | N | 0.50027314 | None | None | N |
| K/L | 0.587 | likely_pathogenic | 0.5123 | ambiguous | 0.517 | Stabilizing | 1.0 | D | 0.739 | prob.delet. | None | None | None | None | N |
| K/M | 0.4205 | ambiguous | 0.3529 | ambiguous | 0.469 | Stabilizing | 1.0 | D | 0.675 | neutral | None | None | None | None | N |
| K/N | 0.6438 | likely_pathogenic | 0.5494 | ambiguous | 0.046 | Stabilizing | 1.0 | D | 0.756 | deleterious | N | 0.477178455 | None | None | N |
| K/P | 0.6694 | likely_pathogenic | 0.5781 | pathogenic | 0.325 | Stabilizing | 1.0 | D | 0.741 | deleterious | None | None | None | None | N |
| K/Q | 0.2149 | likely_benign | 0.1869 | benign | -0.167 | Destabilizing | 1.0 | D | 0.746 | deleterious | N | 0.491523728 | None | None | N |
| K/R | 0.0866 | likely_benign | 0.0853 | benign | -0.257 | Destabilizing | 0.999 | D | 0.568 | neutral | N | 0.482694147 | None | None | N |
| K/S | 0.5816 | likely_pathogenic | 0.4897 | ambiguous | -0.467 | Destabilizing | 0.999 | D | 0.72 | prob.delet. | None | None | None | None | N |
| K/T | 0.3735 | ambiguous | 0.3035 | benign | -0.274 | Destabilizing | 1.0 | D | 0.753 | deleterious | N | 0.484229119 | None | None | N |
| K/V | 0.5663 | likely_pathogenic | 0.5062 | ambiguous | 0.325 | Stabilizing | 1.0 | D | 0.759 | deleterious | None | None | None | None | N |
| K/W | 0.8537 | likely_pathogenic | 0.8182 | pathogenic | -0.095 | Destabilizing | 1.0 | D | 0.761 | deleterious | None | None | None | None | N |
| K/Y | 0.8049 | likely_pathogenic | 0.7631 | pathogenic | 0.22 | Stabilizing | 1.0 | D | 0.76 | 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.