Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33704 | 101335;101336;101337 | chr2:178535505;178535504;178535503 | chr2:179400232;179400231;179400230 |
| N2AB | 32063 | 96412;96413;96414 | chr2:178535505;178535504;178535503 | chr2:179400232;179400231;179400230 |
| N2A | 31136 | 93631;93632;93633 | chr2:178535505;178535504;178535503 | chr2:179400232;179400231;179400230 |
| N2B | 24639 | 74140;74141;74142 | chr2:178535505;178535504;178535503 | chr2:179400232;179400231;179400230 |
| Novex-1 | 24764 | 74515;74516;74517 | chr2:178535505;178535504;178535503 | chr2:179400232;179400231;179400230 |
| Novex-2 | 24831 | 74716;74717;74718 | chr2:178535505;178535504;178535503 | chr2:179400232;179400231;179400230 |
| 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 | None | None | 0.994 | N | 0.47 | 0.187 | 0.322510055762 | gnomAD-4.0.0 | 2.40064E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.625E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.9438 | likely_pathogenic | 0.8765 | pathogenic | -0.666 | Destabilizing | 1.0 | D | 0.776 | deleterious | D | 0.523138047 | None | None | N |
| D/C | 0.9882 | likely_pathogenic | 0.9765 | pathogenic | -0.024 | Destabilizing | 1.0 | D | 0.734 | prob.delet. | None | None | None | None | N |
| D/E | 0.8443 | likely_pathogenic | 0.7316 | pathogenic | -0.564 | Destabilizing | 0.994 | D | 0.47 | neutral | N | 0.449621723 | None | None | N |
| D/F | 0.9823 | likely_pathogenic | 0.956 | pathogenic | -0.786 | Destabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | N |
| D/G | 0.8933 | likely_pathogenic | 0.7852 | pathogenic | -0.896 | Destabilizing | 1.0 | D | 0.741 | deleterious | N | 0.520097742 | None | None | N |
| D/H | 0.9633 | likely_pathogenic | 0.9154 | pathogenic | -1.026 | Destabilizing | 1.0 | D | 0.731 | prob.delet. | N | 0.505899081 | None | None | N |
| D/I | 0.9865 | likely_pathogenic | 0.9625 | pathogenic | -0.088 | Destabilizing | 1.0 | D | 0.781 | deleterious | None | None | None | None | N |
| D/K | 0.9886 | likely_pathogenic | 0.9636 | pathogenic | -0.029 | Destabilizing | 1.0 | D | 0.796 | deleterious | None | None | None | None | N |
| D/L | 0.9754 | likely_pathogenic | 0.9335 | pathogenic | -0.088 | Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | N |
| D/M | 0.9939 | likely_pathogenic | 0.9826 | pathogenic | 0.423 | Stabilizing | 1.0 | D | 0.732 | prob.delet. | None | None | None | None | N |
| D/N | 0.7188 | likely_pathogenic | 0.5092 | ambiguous | -0.287 | Destabilizing | 1.0 | D | 0.561 | neutral | N | 0.461009366 | None | None | N |
| D/P | 0.998 | likely_pathogenic | 0.9934 | pathogenic | -0.259 | Destabilizing | 0.998 | D | 0.788 | deleterious | None | None | None | None | N |
| D/Q | 0.9801 | likely_pathogenic | 0.9445 | pathogenic | -0.269 | Destabilizing | 1.0 | D | 0.719 | prob.delet. | None | None | None | None | N |
| D/R | 0.987 | likely_pathogenic | 0.9608 | pathogenic | -0.054 | Destabilizing | 1.0 | D | 0.776 | deleterious | None | None | None | None | N |
| D/S | 0.864 | likely_pathogenic | 0.7225 | pathogenic | -0.457 | Destabilizing | 1.0 | D | 0.65 | neutral | None | None | None | None | N |
| D/T | 0.9424 | likely_pathogenic | 0.8683 | pathogenic | -0.271 | Destabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | N |
| D/V | 0.9598 | likely_pathogenic | 0.9046 | pathogenic | -0.259 | Destabilizing | 1.0 | D | 0.789 | deleterious | N | 0.490678035 | None | None | N |
| D/W | 0.996 | likely_pathogenic | 0.9918 | pathogenic | -0.671 | Destabilizing | 1.0 | D | 0.735 | prob.delet. | None | None | None | None | N |
| D/Y | 0.8888 | likely_pathogenic | 0.7665 | pathogenic | -0.559 | Destabilizing | 1.0 | D | 0.779 | deleterious | N | 0.48384118 | 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.