Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33469 | 100630;100631;100632 | chr2:178536342;178536341;178536340 | chr2:179401069;179401068;179401067 |
| N2AB | 31828 | 95707;95708;95709 | chr2:178536342;178536341;178536340 | chr2:179401069;179401068;179401067 |
| N2A | 30901 | 92926;92927;92928 | chr2:178536342;178536341;178536340 | chr2:179401069;179401068;179401067 |
| N2B | 24404 | 73435;73436;73437 | chr2:178536342;178536341;178536340 | chr2:179401069;179401068;179401067 |
| Novex-1 | 24529 | 73810;73811;73812 | chr2:178536342;178536341;178536340 | chr2:179401069;179401068;179401067 |
| Novex-2 | 24596 | 74011;74012;74013 | chr2:178536342;178536341;178536340 | chr2:179401069;179401068;179401067 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/W | rs979276403  |
None | 1.0 | N | 0.875 | 0.395 | 0.410868550352 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 6.54E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| C/W | rs979276403 |
None | 1.0 | N | 0.875 | 0.395 | 0.410868550352 | gnomAD-4.0.0 | 2.56226E-06 | None | None | None | None | N | None | 1.69107E-05 | 1.69486E-05 | None | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/A | 0.4388 | ambiguous | 0.5339 | ambiguous | -1.893 | Destabilizing | 0.998 | D | 0.636 | neutral | None | None | None | None | N |
| C/D | 0.9943 | likely_pathogenic | 0.9972 | pathogenic | -1.88 | Destabilizing | 1.0 | D | 0.889 | deleterious | None | None | None | None | N |
| C/E | 0.9975 | likely_pathogenic | 0.9988 | pathogenic | -1.672 | Destabilizing | 1.0 | D | 0.917 | deleterious | None | None | None | None | N |
| C/F | 0.9464 | likely_pathogenic | 0.9742 | pathogenic | -1.302 | Destabilizing | 1.0 | D | 0.894 | deleterious | N | 0.4663879 | None | None | N |
| C/G | 0.3966 | ambiguous | 0.5497 | ambiguous | -2.146 | Highly Destabilizing | 1.0 | D | 0.878 | deleterious | N | 0.467047117 | None | None | N |
| C/H | 0.9936 | likely_pathogenic | 0.9964 | pathogenic | -2.212 | Highly Destabilizing | 1.0 | D | 0.888 | deleterious | None | None | None | None | N |
| C/I | 0.9481 | likely_pathogenic | 0.9657 | pathogenic | -1.206 | Destabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | N |
| C/K | 0.999 | likely_pathogenic | 0.9995 | pathogenic | -1.583 | Destabilizing | 1.0 | D | 0.887 | deleterious | None | None | None | None | N |
| C/L | 0.9356 | likely_pathogenic | 0.9559 | pathogenic | -1.206 | Destabilizing | 0.999 | D | 0.747 | deleterious | None | None | None | None | N |
| C/M | 0.966 | likely_pathogenic | 0.9756 | pathogenic | -1.448 | Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| C/N | 0.9724 | likely_pathogenic | 0.9832 | pathogenic | -1.947 | Destabilizing | 1.0 | D | 0.917 | deleterious | None | None | None | None | N |
| C/P | 0.997 | likely_pathogenic | 0.9988 | pathogenic | -1.42 | Destabilizing | 1.0 | D | 0.915 | deleterious | None | None | None | None | N |
| C/Q | 0.9947 | likely_pathogenic | 0.9972 | pathogenic | -1.529 | Destabilizing | 1.0 | D | 0.919 | deleterious | None | None | None | None | N |
| C/R | 0.9907 | likely_pathogenic | 0.9955 | pathogenic | -1.893 | Destabilizing | 1.0 | D | 0.918 | deleterious | N | 0.4663879 | None | None | N |
| C/S | 0.5075 | ambiguous | 0.6287 | pathogenic | -2.258 | Highly Destabilizing | 1.0 | D | 0.8 | deleterious | N | 0.432857185 | None | None | N |
| C/T | 0.7561 | likely_pathogenic | 0.8254 | pathogenic | -1.924 | Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | N |
| C/V | 0.8218 | likely_pathogenic | 0.8553 | pathogenic | -1.42 | Destabilizing | 0.999 | D | 0.793 | deleterious | None | None | None | None | N |
| C/W | 0.9915 | likely_pathogenic | 0.9958 | pathogenic | -1.73 | Destabilizing | 1.0 | D | 0.875 | deleterious | N | 0.4663879 | None | None | N |
| C/Y | 0.9695 | likely_pathogenic | 0.9855 | pathogenic | -1.531 | Destabilizing | 1.0 | D | 0.915 | deleterious | N | 0.4663879 | 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.