Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 34214 | 102865;102866;102867 | chr2:178533975;178533974;178533973 | chr2:179398702;179398701;179398700 |
| N2AB | 32573 | 97942;97943;97944 | chr2:178533975;178533974;178533973 | chr2:179398702;179398701;179398700 |
| N2A | 31646 | 95161;95162;95163 | chr2:178533975;178533974;178533973 | chr2:179398702;179398701;179398700 |
| N2B | 25149 | 75670;75671;75672 | chr2:178533975;178533974;178533973 | chr2:179398702;179398701;179398700 |
| Novex-1 | 25274 | 76045;76046;76047 | chr2:178533975;178533974;178533973 | chr2:179398702;179398701;179398700 |
| Novex-2 | 25341 | 76246;76247;76248 | chr2:178533975;178533974;178533973 | chr2:179398702;179398701;179398700 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/E | rs766760792  |
-0.039 | 0.619 | N | 0.347 | 0.163 | 0.349429436713 | gnomAD-2.1.1 | 1.61E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.22742E-04 | None | 0 | None | 0 | 0 | 0 |
| D/E | rs766760792 |
-0.039 | 0.619 | N | 0.347 | 0.163 | 0.349429436713 | gnomAD-4.0.0 | 9.54654E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.66362E-04 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.267 | likely_benign | 0.2385 | benign | -0.319 | Destabilizing | 0.998 | D | 0.557 | neutral | N | 0.478011551 | None | None | N |
| D/C | 0.8692 | likely_pathogenic | 0.8349 | pathogenic | 0.003 | Stabilizing | 1.0 | D | 0.768 | deleterious | None | None | None | None | N |
| D/E | 0.2035 | likely_benign | 0.1805 | benign | -0.291 | Destabilizing | 0.619 | D | 0.347 | neutral | N | 0.448995366 | None | None | N |
| D/F | 0.8404 | likely_pathogenic | 0.8285 | pathogenic | -0.267 | Destabilizing | 1.0 | D | 0.709 | prob.delet. | None | None | None | None | N |
| D/G | 0.3266 | likely_benign | 0.2899 | benign | -0.486 | Destabilizing | 0.996 | D | 0.554 | neutral | N | 0.512374841 | None | None | N |
| D/H | 0.4763 | ambiguous | 0.416 | ambiguous | 0.046 | Stabilizing | 1.0 | D | 0.623 | neutral | N | 0.502120562 | None | None | N |
| D/I | 0.5577 | ambiguous | 0.5226 | ambiguous | 0.068 | Stabilizing | 1.0 | D | 0.725 | prob.delet. | None | None | None | None | N |
| D/K | 0.4718 | ambiguous | 0.3752 | ambiguous | 0.415 | Stabilizing | 0.998 | D | 0.575 | neutral | None | None | None | None | N |
| D/L | 0.6039 | likely_pathogenic | 0.568 | pathogenic | 0.068 | Stabilizing | 0.999 | D | 0.69 | prob.neutral | None | None | None | None | N |
| D/M | 0.811 | likely_pathogenic | 0.7813 | pathogenic | 0.171 | Stabilizing | 1.0 | D | 0.739 | prob.delet. | None | None | None | None | N |
| D/N | 0.1518 | likely_benign | 0.1346 | benign | 0.048 | Stabilizing | 0.999 | D | 0.591 | neutral | N | 0.490556774 | None | None | N |
| D/P | 0.7811 | likely_pathogenic | 0.7455 | pathogenic | -0.041 | Destabilizing | 1.0 | D | 0.612 | neutral | None | None | None | None | N |
| D/Q | 0.4497 | ambiguous | 0.3843 | ambiguous | 0.083 | Stabilizing | 0.998 | D | 0.622 | neutral | None | None | None | None | N |
| D/R | 0.4844 | ambiguous | 0.4041 | ambiguous | 0.584 | Stabilizing | 0.998 | D | 0.669 | neutral | None | None | None | None | N |
| D/S | 0.1859 | likely_benign | 0.1618 | benign | -0.025 | Destabilizing | 0.994 | D | 0.535 | neutral | None | None | None | None | N |
| D/T | 0.3646 | ambiguous | 0.3303 | benign | 0.115 | Stabilizing | 0.999 | D | 0.6 | neutral | None | None | None | None | N |
| D/V | 0.3796 | ambiguous | 0.3556 | ambiguous | -0.041 | Destabilizing | 0.999 | D | 0.687 | prob.neutral | N | 0.506969021 | None | None | N |
| D/W | 0.9587 | likely_pathogenic | 0.9516 | pathogenic | -0.126 | Destabilizing | 1.0 | D | 0.771 | deleterious | None | None | None | None | N |
| D/Y | 0.4398 | ambiguous | 0.4006 | ambiguous | -0.025 | Destabilizing | 1.0 | D | 0.707 | prob.neutral | N | 0.491250207 | 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.