Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3996 | 12211;12212;12213 | chr2:178741247;178741246;178741245 | chr2:179605974;179605973;179605972 |
| N2AB | 3679 | 11260;11261;11262 | chr2:178741247;178741246;178741245 | chr2:179605974;179605973;179605972 |
| N2A | None | None | chr2:None | chr2:None |
| N2B | 3633 | 11122;11123;11124 | chr2:178741247;178741246;178741245 | chr2:179605974;179605973;179605972 |
| Novex-1 | 3758 | 11497;11498;11499 | chr2:178741247;178741246;178741245 | chr2:179605974;179605973;179605972 |
| Novex-2 | 3825 | 11698;11699;11700 | chr2:178741247;178741246;178741245 | chr2:179605974;179605973;179605972 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/I | None | None | 0.006 | N | 0.387 | 0.052 | None | gnomAD-4.0.0 | 2.0528E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.69829E-06 | 0 | 0 |
| F/L | rs1247960779  |
-0.583 | None | N | 0.279 | 0.057 | None | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| F/L | rs1247960779 |
-0.583 | None | N | 0.279 | 0.057 | None | gnomAD-4.0.0 | 1.59171E-06 | None | None | None | None | N | None | 0 | 2.28655E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| F/S | rs778023038 |
-2.48 | 0.492 | N | 0.805 | 0.452 | None | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.9E-06 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/A | 0.9614 | likely_pathogenic | 0.9576 | pathogenic | -1.406 | Destabilizing | 0.207 | N | 0.752 | deleterious | None | None | None | None | N |
| F/C | 0.6994 | likely_pathogenic | 0.6932 | pathogenic | -0.804 | Destabilizing | 0.975 | D | 0.849 | deleterious | N | 0.486392745 | None | None | N |
| F/D | 0.999 | likely_pathogenic | 0.999 | pathogenic | -2.465 | Highly Destabilizing | 0.932 | D | 0.836 | deleterious | None | None | None | None | N |
| F/E | 0.9984 | likely_pathogenic | 0.9982 | pathogenic | -2.263 | Highly Destabilizing | 0.818 | D | 0.827 | deleterious | None | None | None | None | N |
| F/G | 0.9912 | likely_pathogenic | 0.9899 | pathogenic | -1.773 | Destabilizing | 0.818 | D | 0.824 | deleterious | None | None | None | None | N |
| F/H | 0.9887 | likely_pathogenic | 0.987 | pathogenic | -1.923 | Destabilizing | 0.981 | D | 0.78 | deleterious | None | None | None | None | N |
| F/I | 0.4348 | ambiguous | 0.4214 | ambiguous | -0.211 | Destabilizing | 0.006 | N | 0.387 | neutral | N | 0.4457368 | None | None | N |
| F/K | 0.9981 | likely_pathogenic | 0.9979 | pathogenic | -1.529 | Destabilizing | 0.818 | D | 0.828 | deleterious | None | None | None | None | N |
| F/L | 0.8088 | likely_pathogenic | 0.804 | pathogenic | -0.211 | Destabilizing | None | N | 0.279 | neutral | N | 0.295465968 | None | None | N |
| F/M | 0.7434 | likely_pathogenic | 0.7227 | pathogenic | -0.319 | Destabilizing | 0.69 | D | 0.605 | neutral | None | None | None | None | N |
| F/N | 0.9957 | likely_pathogenic | 0.9951 | pathogenic | -2.228 | Highly Destabilizing | 0.932 | D | 0.851 | deleterious | None | None | None | None | N |
| F/P | 0.9996 | likely_pathogenic | 0.9996 | pathogenic | -0.619 | Destabilizing | 0.932 | D | 0.855 | deleterious | None | None | None | None | N |
| F/Q | 0.9968 | likely_pathogenic | 0.9965 | pathogenic | -1.827 | Destabilizing | 0.932 | D | 0.854 | deleterious | None | None | None | None | N |
| F/R | 0.9922 | likely_pathogenic | 0.9918 | pathogenic | -1.958 | Destabilizing | 0.818 | D | 0.848 | deleterious | None | None | None | None | N |
| F/S | 0.9876 | likely_pathogenic | 0.9857 | pathogenic | -2.334 | Highly Destabilizing | 0.492 | N | 0.805 | deleterious | N | 0.487198287 | None | None | N |
| F/T | 0.9875 | likely_pathogenic | 0.9847 | pathogenic | -2.016 | Highly Destabilizing | 0.388 | N | 0.788 | deleterious | None | None | None | None | N |
| F/V | 0.4655 | ambiguous | 0.4442 | ambiguous | -0.619 | Destabilizing | 0.09 | N | 0.637 | neutral | N | 0.448095003 | None | None | N |
| F/W | 0.9317 | likely_pathogenic | 0.9145 | pathogenic | -0.329 | Destabilizing | 0.981 | D | 0.606 | neutral | None | None | None | None | N |
| F/Y | 0.632 | likely_pathogenic | 0.5853 | pathogenic | -0.595 | Destabilizing | 0.492 | N | 0.606 | neutral | N | 0.452238203 | 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.