Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 24360 | 73303;73304;73305 | chr2:178573054;178573053;178573052 | chr2:179437781;179437780;179437779 |
| N2AB | 22719 | 68380;68381;68382 | chr2:178573054;178573053;178573052 | chr2:179437781;179437780;179437779 |
| N2A | 21792 | 65599;65600;65601 | chr2:178573054;178573053;178573052 | chr2:179437781;179437780;179437779 |
| N2B | 15295 | 46108;46109;46110 | chr2:178573054;178573053;178573052 | chr2:179437781;179437780;179437779 |
| Novex-1 | 15420 | 46483;46484;46485 | chr2:178573054;178573053;178573052 | chr2:179437781;179437780;179437779 |
| Novex-2 | 15487 | 46684;46685;46686 | chr2:178573054;178573053;178573052 | chr2:179437781;179437780;179437779 |
| 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/F | None | None | 1.0 | D | 0.832 | 0.517 | 0.858522680276 | gnomAD-4.0.0 | 4.79115E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 4.49822E-06 | 1.15953E-05 | 1.65739E-05 |
| V/L | None | None | 0.997 | N | 0.623 | 0.428 | 0.685011114773 | gnomAD-4.0.0 | 6.84451E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99643E-07 | 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 | 0.6675 | likely_pathogenic | 0.5786 | pathogenic | -2.528 | Highly Destabilizing | 0.999 | D | 0.597 | neutral | D | 0.543123101 | None | None | N |
| V/C | 0.9725 | likely_pathogenic | 0.9692 | pathogenic | -1.95 | Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | N |
| V/D | 0.9984 | likely_pathogenic | 0.998 | pathogenic | -3.633 | Highly Destabilizing | 1.0 | D | 0.879 | deleterious | D | 0.561987825 | None | None | N |
| V/E | 0.9939 | likely_pathogenic | 0.9932 | pathogenic | -3.317 | Highly Destabilizing | 1.0 | D | 0.881 | deleterious | None | None | None | None | N |
| V/F | 0.9085 | likely_pathogenic | 0.8815 | pathogenic | -1.548 | Destabilizing | 1.0 | D | 0.832 | deleterious | D | 0.561734335 | None | None | N |
| V/G | 0.9349 | likely_pathogenic | 0.911 | pathogenic | -3.097 | Highly Destabilizing | 1.0 | D | 0.884 | deleterious | D | 0.561987825 | None | None | N |
| V/H | 0.9988 | likely_pathogenic | 0.9985 | pathogenic | -2.977 | Highly Destabilizing | 1.0 | D | 0.877 | deleterious | None | None | None | None | N |
| V/I | 0.0948 | likely_benign | 0.0976 | benign | -0.845 | Destabilizing | 0.997 | D | 0.6 | neutral | N | 0.514598708 | None | None | N |
| V/K | 0.9953 | likely_pathogenic | 0.995 | pathogenic | -2.267 | Highly Destabilizing | 1.0 | D | 0.881 | deleterious | None | None | None | None | N |
| V/L | 0.4557 | ambiguous | 0.4673 | ambiguous | -0.845 | Destabilizing | 0.997 | D | 0.623 | neutral | N | 0.478674436 | None | None | N |
| V/M | 0.5796 | likely_pathogenic | 0.5483 | ambiguous | -1.096 | Destabilizing | 1.0 | D | 0.768 | deleterious | None | None | None | None | N |
| V/N | 0.995 | likely_pathogenic | 0.994 | pathogenic | -3.031 | Highly Destabilizing | 1.0 | D | 0.885 | deleterious | None | None | None | None | N |
| V/P | 0.9916 | likely_pathogenic | 0.9916 | pathogenic | -1.393 | Destabilizing | 1.0 | D | 0.873 | deleterious | None | None | None | None | N |
| V/Q | 0.9937 | likely_pathogenic | 0.9931 | pathogenic | -2.663 | Highly Destabilizing | 1.0 | D | 0.882 | deleterious | None | None | None | None | N |
| V/R | 0.9919 | likely_pathogenic | 0.9909 | pathogenic | -2.341 | Highly Destabilizing | 1.0 | D | 0.891 | deleterious | None | None | None | None | N |
| V/S | 0.9726 | likely_pathogenic | 0.9604 | pathogenic | -3.442 | Highly Destabilizing | 1.0 | D | 0.879 | deleterious | None | None | None | None | N |
| V/T | 0.8094 | likely_pathogenic | 0.7572 | pathogenic | -2.975 | Highly Destabilizing | 0.999 | D | 0.641 | neutral | None | None | None | None | N |
| V/W | 0.9987 | likely_pathogenic | 0.9984 | pathogenic | -2.063 | Highly Destabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | N |
| V/Y | 0.9942 | likely_pathogenic | 0.9925 | pathogenic | -1.814 | Destabilizing | 1.0 | D | 0.824 | 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.