Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2503 | 7732;7733;7734 | chr2:178773549;178773548;178773547 | chr2:179638276;179638275;179638274 |
| N2AB | 2503 | 7732;7733;7734 | chr2:178773549;178773548;178773547 | chr2:179638276;179638275;179638274 |
| N2A | 2503 | 7732;7733;7734 | chr2:178773549;178773548;178773547 | chr2:179638276;179638275;179638274 |
| N2B | 2457 | 7594;7595;7596 | chr2:178773549;178773548;178773547 | chr2:179638276;179638275;179638274 |
| Novex-1 | 2457 | 7594;7595;7596 | chr2:178773549;178773548;178773547 | chr2:179638276;179638275;179638274 |
| Novex-2 | 2457 | 7594;7595;7596 | chr2:178773549;178773548;178773547 | chr2:179638276;179638275;179638274 |
| Novex-3 | 2503 | 7732;7733;7734 | chr2:178773549;178773548;178773547 | chr2:179638276;179638275;179638274 |
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/A | rs751964863  |
-2.174 | 0.999 | D | 0.521 | 0.419 | 0.707016183132 | gnomAD-2.1.1 | 2.83E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 4.0205E-04 | None | 0 | None | 0 | 0 | 0 |
| V/A | rs751964863 |
-2.174 | 0.999 | D | 0.521 | 0.419 | 0.707016183132 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 1.9253E-04 | None | 0 | 0 | 0 | 0 | 0 |
| V/A | rs751964863 |
-2.174 | 0.999 | D | 0.521 | 0.419 | 0.707016183132 | gnomAD-4.0.0 | 5.57653E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.78293E-04 | None | 0 | 0 | 0 | 0 | 1.60041E-05 |
| V/D | None | None | 1.0 | D | 0.807 | 0.727 | 0.883884871053 | gnomAD-4.0.0 | 6.841E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99319E-07 | 0 | 0 |
| V/L | rs1002285486 |
-0.681 | 0.997 | N | 0.515 | 0.298 | 0.600613607152 | gnomAD-2.1.1 | 3.98E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.45E-05 | None | 0 | None | 0 | 0 | 0 |
| V/L | rs1002285486 |
-0.681 | 0.997 | N | 0.515 | 0.298 | 0.600613607152 | gnomAD-4.0.0 | 1.59067E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.77439E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.4151 | ambiguous | 0.4305 | ambiguous | -2.204 | Highly Destabilizing | 0.999 | D | 0.521 | neutral | D | 0.554338975 | None | None | N |
| V/C | 0.8466 | likely_pathogenic | 0.8594 | pathogenic | -1.808 | Destabilizing | 1.0 | D | 0.753 | deleterious | None | None | None | None | N |
| V/D | 0.9015 | likely_pathogenic | 0.8882 | pathogenic | -2.726 | Highly Destabilizing | 1.0 | D | 0.807 | deleterious | D | 0.598389277 | None | None | N |
| V/E | 0.7394 | likely_pathogenic | 0.7116 | pathogenic | -2.591 | Highly Destabilizing | 1.0 | D | 0.744 | deleterious | None | None | None | None | N |
| V/F | 0.3333 | likely_benign | 0.3483 | ambiguous | -1.405 | Destabilizing | 1.0 | D | 0.755 | deleterious | D | 0.596290039 | None | None | N |
| V/G | 0.6218 | likely_pathogenic | 0.6222 | pathogenic | -2.653 | Highly Destabilizing | 1.0 | D | 0.785 | deleterious | D | 0.598814079 | None | None | N |
| V/H | 0.8374 | likely_pathogenic | 0.842 | pathogenic | -2.216 | Highly Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | N |
| V/I | 0.0899 | likely_benign | 0.0973 | benign | -0.982 | Destabilizing | 0.997 | D | 0.489 | neutral | N | 0.493393279 | None | None | N |
| V/K | 0.7922 | likely_pathogenic | 0.7812 | pathogenic | -1.959 | Destabilizing | 1.0 | D | 0.745 | deleterious | None | None | None | None | N |
| V/L | 0.2845 | likely_benign | 0.3115 | benign | -0.982 | Destabilizing | 0.997 | D | 0.515 | neutral | N | 0.511225391 | None | None | N |
| V/M | 0.2548 | likely_benign | 0.2775 | benign | -0.973 | Destabilizing | 1.0 | D | 0.611 | neutral | None | None | None | None | N |
| V/N | 0.691 | likely_pathogenic | 0.6822 | pathogenic | -2.091 | Highly Destabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | N |
| V/P | 0.9847 | likely_pathogenic | 0.9828 | pathogenic | -1.361 | Destabilizing | 1.0 | D | 0.767 | deleterious | None | None | None | None | N |
| V/Q | 0.65 | likely_pathogenic | 0.6392 | pathogenic | -2.087 | Highly Destabilizing | 1.0 | D | 0.788 | deleterious | None | None | None | None | N |
| V/R | 0.7405 | likely_pathogenic | 0.7196 | pathogenic | -1.532 | Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | N |
| V/S | 0.5231 | ambiguous | 0.5235 | ambiguous | -2.672 | Highly Destabilizing | 1.0 | D | 0.753 | deleterious | None | None | None | None | N |
| V/T | 0.4279 | ambiguous | 0.4214 | ambiguous | -2.418 | Highly Destabilizing | 0.999 | D | 0.507 | neutral | None | None | None | None | N |
| V/W | 0.9406 | likely_pathogenic | 0.9468 | pathogenic | -1.809 | Destabilizing | 1.0 | D | 0.788 | deleterious | None | None | None | None | N |
| V/Y | 0.7457 | likely_pathogenic | 0.7495 | pathogenic | -1.513 | Destabilizing | 1.0 | D | 0.766 | 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.