Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 24611 | 74056;74057;74058 | chr2:178572301;178572300;178572299 | chr2:179437028;179437027;179437026 |
| N2AB | 22970 | 69133;69134;69135 | chr2:178572301;178572300;178572299 | chr2:179437028;179437027;179437026 |
| N2A | 22043 | 66352;66353;66354 | chr2:178572301;178572300;178572299 | chr2:179437028;179437027;179437026 |
| N2B | 15546 | 46861;46862;46863 | chr2:178572301;178572300;178572299 | chr2:179437028;179437027;179437026 |
| Novex-1 | 15671 | 47236;47237;47238 | chr2:178572301;178572300;178572299 | chr2:179437028;179437027;179437026 |
| Novex-2 | 15738 | 47437;47438;47439 | chr2:178572301;178572300;178572299 | chr2:179437028;179437027;179437026 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/L | rs760865833  |
-0.169 | 0.044 | N | 0.392 | 0.177 | 0.417208245017 | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 2.68E-05 | 0 |
| V/L | rs760865833 |
-0.169 | 0.044 | N | 0.392 | 0.177 | 0.417208245017 | gnomAD-4.0.0 | 2.05521E-06 | None | None | None | None | N | None | 2.9915E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 1.80123E-06 | 0 | 0 |
| V/M | None | -0.394 | 0.939 | N | 0.597 | 0.284 | 0.535726849619 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.92E-06 | 0 |
| V/M | None | -0.394 | 0.939 | N | 0.597 | 0.284 | 0.535726849619 | gnomAD-4.0.0 | 1.37014E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.80123E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.4457 | ambiguous | 0.3607 | ambiguous | -1.294 | Destabilizing | 0.577 | D | 0.539 | neutral | N | 0.494024808 | None | None | N |
| V/C | 0.7795 | likely_pathogenic | 0.7129 | pathogenic | -1.04 | Destabilizing | 0.997 | D | 0.735 | deleterious | None | None | None | None | N |
| V/D | 0.9265 | likely_pathogenic | 0.8848 | pathogenic | -0.584 | Destabilizing | 0.996 | D | 0.839 | deleterious | None | None | None | None | N |
| V/E | 0.7781 | likely_pathogenic | 0.7207 | pathogenic | -0.475 | Destabilizing | 0.966 | D | 0.755 | deleterious | N | 0.517662471 | None | None | N |
| V/F | 0.3155 | likely_benign | 0.2404 | benign | -0.687 | Destabilizing | 0.966 | D | 0.733 | deleterious | None | None | None | None | N |
| V/G | 0.6591 | likely_pathogenic | 0.5476 | ambiguous | -1.703 | Destabilizing | 0.996 | D | 0.789 | deleterious | N | 0.51816945 | None | None | N |
| V/H | 0.8806 | likely_pathogenic | 0.836 | pathogenic | -1.024 | Destabilizing | 0.998 | D | 0.822 | deleterious | None | None | None | None | N |
| V/I | 0.0667 | likely_benign | 0.0676 | benign | -0.235 | Destabilizing | 0.001 | N | 0.181 | neutral | None | None | None | None | N |
| V/K | 0.8157 | likely_pathogenic | 0.7583 | pathogenic | -0.926 | Destabilizing | 0.964 | D | 0.761 | deleterious | None | None | None | None | N |
| V/L | 0.2658 | likely_benign | 0.2212 | benign | -0.235 | Destabilizing | 0.044 | N | 0.392 | neutral | N | 0.460182928 | None | None | N |
| V/M | 0.1966 | likely_benign | 0.1691 | benign | -0.399 | Destabilizing | 0.939 | D | 0.597 | neutral | N | 0.506559655 | None | None | N |
| V/N | 0.7878 | likely_pathogenic | 0.7205 | pathogenic | -0.997 | Destabilizing | 0.924 | D | 0.835 | deleterious | None | None | None | None | N |
| V/P | 0.9743 | likely_pathogenic | 0.9481 | pathogenic | -0.554 | Destabilizing | 0.924 | D | 0.797 | deleterious | None | None | None | None | N |
| V/Q | 0.6936 | likely_pathogenic | 0.6336 | pathogenic | -0.935 | Destabilizing | 0.983 | D | 0.795 | deleterious | None | None | None | None | N |
| V/R | 0.7827 | likely_pathogenic | 0.7068 | pathogenic | -0.673 | Destabilizing | 0.994 | D | 0.837 | deleterious | None | None | None | None | N |
| V/S | 0.5975 | likely_pathogenic | 0.5007 | ambiguous | -1.697 | Destabilizing | 0.969 | D | 0.68 | prob.neutral | None | None | None | None | N |
| V/T | 0.3668 | ambiguous | 0.3199 | benign | -1.435 | Destabilizing | 0.638 | D | 0.625 | neutral | None | None | None | None | N |
| V/W | 0.937 | likely_pathogenic | 0.8911 | pathogenic | -0.906 | Destabilizing | 0.999 | D | 0.757 | deleterious | None | None | None | None | N |
| V/Y | 0.7923 | likely_pathogenic | 0.7054 | pathogenic | -0.561 | Destabilizing | 0.994 | D | 0.723 | 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.