Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 32594 | 98005;98006;98007 | chr2:178541297;178541296;178541295 | chr2:179406024;179406023;179406022 |
| N2AB | 30953 | 93082;93083;93084 | chr2:178541297;178541296;178541295 | chr2:179406024;179406023;179406022 |
| N2A | 30026 | 90301;90302;90303 | chr2:178541297;178541296;178541295 | chr2:179406024;179406023;179406022 |
| N2B | 23529 | 70810;70811;70812 | chr2:178541297;178541296;178541295 | chr2:179406024;179406023;179406022 |
| Novex-1 | 23654 | 71185;71186;71187 | chr2:178541297;178541296;178541295 | chr2:179406024;179406023;179406022 |
| Novex-2 | 23721 | 71386;71387;71388 | chr2:178541297;178541296;178541295 | chr2:179406024;179406023;179406022 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/T | rs956129765  |
None | 1.0 | N | 0.782 | 0.25 | 0.320256813643 | gnomAD-4.0.0 | 4.4151E-06 | None | None | None | None | N | None | 6.39591E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 9.50128E-07 | 2.76955E-05 | 1.77595E-05 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.6397 | likely_pathogenic | 0.6275 | pathogenic | -1.603 | Destabilizing | 1.0 | D | 0.776 | deleterious | None | None | None | None | N |
| A/D | 0.9948 | likely_pathogenic | 0.9962 | pathogenic | -2.879 | Highly Destabilizing | 1.0 | D | 0.792 | deleterious | N | 0.501866075 | None | None | N |
| A/E | 0.991 | likely_pathogenic | 0.9928 | pathogenic | -2.687 | Highly Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | N |
| A/F | 0.9746 | likely_pathogenic | 0.9814 | pathogenic | -0.739 | Destabilizing | 1.0 | D | 0.763 | deleterious | None | None | None | None | N |
| A/G | 0.5747 | likely_pathogenic | 0.6184 | pathogenic | -1.792 | Destabilizing | 0.999 | D | 0.586 | neutral | N | 0.471645046 | None | None | N |
| A/H | 0.9953 | likely_pathogenic | 0.9954 | pathogenic | -1.969 | Destabilizing | 1.0 | D | 0.761 | deleterious | None | None | None | None | N |
| A/I | 0.8745 | likely_pathogenic | 0.9107 | pathogenic | -0.258 | Destabilizing | 1.0 | D | 0.806 | deleterious | None | None | None | None | N |
| A/K | 0.9979 | likely_pathogenic | 0.9981 | pathogenic | -1.302 | Destabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | N |
| A/L | 0.7758 | likely_pathogenic | 0.8114 | pathogenic | -0.258 | Destabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | N |
| A/M | 0.8812 | likely_pathogenic | 0.9093 | pathogenic | -0.751 | Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | N |
| A/N | 0.9817 | likely_pathogenic | 0.983 | pathogenic | -1.693 | Destabilizing | 1.0 | D | 0.779 | deleterious | None | None | None | None | N |
| A/P | 0.8565 | likely_pathogenic | 0.8221 | pathogenic | -0.594 | Destabilizing | 1.0 | D | 0.791 | deleterious | N | 0.478228412 | None | None | N |
| A/Q | 0.9851 | likely_pathogenic | 0.9858 | pathogenic | -1.51 | Destabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | N |
| A/R | 0.9893 | likely_pathogenic | 0.9901 | pathogenic | -1.357 | Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | N |
| A/S | 0.3579 | ambiguous | 0.3883 | ambiguous | -2.008 | Highly Destabilizing | 0.999 | D | 0.624 | neutral | N | 0.469567905 | None | None | N |
| A/T | 0.6268 | likely_pathogenic | 0.702 | pathogenic | -1.712 | Destabilizing | 1.0 | D | 0.782 | deleterious | N | 0.489502689 | None | None | N |
| A/V | 0.5656 | likely_pathogenic | 0.6707 | pathogenic | -0.594 | Destabilizing | 0.999 | D | 0.689 | prob.delet. | N | 0.49498308 | None | None | N |
| A/W | 0.998 | likely_pathogenic | 0.9983 | pathogenic | -1.442 | Destabilizing | 1.0 | D | 0.713 | prob.delet. | None | None | None | None | N |
| A/Y | 0.9928 | likely_pathogenic | 0.9937 | pathogenic | -1.005 | Destabilizing | 1.0 | D | 0.797 | 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.