Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 1519 | 4780;4781;4782 | chr2:178777510;178777509;178777508 | chr2:179642237;179642236;179642235 |
| N2AB | 1519 | 4780;4781;4782 | chr2:178777510;178777509;178777508 | chr2:179642237;179642236;179642235 |
| N2A | 1519 | 4780;4781;4782 | chr2:178777510;178777509;178777508 | chr2:179642237;179642236;179642235 |
| N2B | 1473 | 4642;4643;4644 | chr2:178777510;178777509;178777508 | chr2:179642237;179642236;179642235 |
| Novex-1 | 1473 | 4642;4643;4644 | chr2:178777510;178777509;178777508 | chr2:179642237;179642236;179642235 |
| Novex-2 | 1473 | 4642;4643;4644 | chr2:178777510;178777509;178777508 | chr2:179642237;179642236;179642235 |
| Novex-3 | 1519 | 4780;4781;4782 | chr2:178777510;178777509;178777508 | chr2:179642237;179642236;179642235 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/S | None | None | 1.0 | N | 0.76 | 0.43 | 0.50143340055 | gnomAD-4.0.0 | 1.59121E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85713E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.4279 | ambiguous | 0.47 | ambiguous | -0.596 | Destabilizing | 1.0 | D | 0.699 | prob.neutral | N | 0.508101078 | None | None | N |
| P/C | 0.9473 | likely_pathogenic | 0.9553 | pathogenic | -0.622 | Destabilizing | 1.0 | D | 0.765 | deleterious | None | None | None | None | N |
| P/D | 0.8914 | likely_pathogenic | 0.8956 | pathogenic | -0.344 | Destabilizing | 1.0 | D | 0.745 | deleterious | None | None | None | None | N |
| P/E | 0.7968 | likely_pathogenic | 0.8095 | pathogenic | -0.465 | Destabilizing | 1.0 | D | 0.749 | deleterious | None | None | None | None | N |
| P/F | 0.9599 | likely_pathogenic | 0.9697 | pathogenic | -0.912 | Destabilizing | 1.0 | D | 0.747 | deleterious | None | None | None | None | N |
| P/G | 0.7807 | likely_pathogenic | 0.8182 | pathogenic | -0.724 | Destabilizing | 1.0 | D | 0.792 | deleterious | None | None | None | None | N |
| P/H | 0.6945 | likely_pathogenic | 0.7221 | pathogenic | -0.365 | Destabilizing | 1.0 | D | 0.741 | deleterious | D | 0.534611135 | None | None | N |
| P/I | 0.9444 | likely_pathogenic | 0.9557 | pathogenic | -0.411 | Destabilizing | 1.0 | D | 0.781 | deleterious | None | None | None | None | N |
| P/K | 0.8545 | likely_pathogenic | 0.8612 | pathogenic | -0.375 | Destabilizing | 1.0 | D | 0.747 | deleterious | None | None | None | None | N |
| P/L | 0.6145 | likely_pathogenic | 0.6798 | pathogenic | -0.411 | Destabilizing | 1.0 | D | 0.777 | deleterious | D | 0.604858144 | None | None | N |
| P/M | 0.8897 | likely_pathogenic | 0.9191 | pathogenic | -0.283 | Destabilizing | 1.0 | D | 0.745 | deleterious | None | None | None | None | N |
| P/N | 0.7896 | likely_pathogenic | 0.8191 | pathogenic | -0.122 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | N |
| P/Q | 0.6529 | likely_pathogenic | 0.6943 | pathogenic | -0.418 | Destabilizing | 1.0 | D | 0.775 | deleterious | None | None | None | None | N |
| P/R | 0.6956 | likely_pathogenic | 0.7172 | pathogenic | 0.132 | Stabilizing | 1.0 | D | 0.797 | deleterious | N | 0.517427219 | None | None | N |
| P/S | 0.5441 | ambiguous | 0.5894 | pathogenic | -0.497 | Destabilizing | 1.0 | D | 0.76 | deleterious | N | 0.492545765 | None | None | N |
| P/T | 0.5757 | likely_pathogenic | 0.6129 | pathogenic | -0.522 | Destabilizing | 1.0 | D | 0.75 | deleterious | D | 0.534040177 | None | None | N |
| P/V | 0.8652 | likely_pathogenic | 0.8856 | pathogenic | -0.438 | Destabilizing | 1.0 | D | 0.774 | deleterious | None | None | None | None | N |
| P/W | 0.9785 | likely_pathogenic | 0.9823 | pathogenic | -0.965 | Destabilizing | 1.0 | D | 0.759 | deleterious | None | None | None | None | N |
| P/Y | 0.9372 | likely_pathogenic | 0.9459 | pathogenic | -0.641 | Destabilizing | 1.0 | D | 0.77 | 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.