Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 27266 | 82021;82022;82023 | chr2:178564336;178564335;178564334 | chr2:179429063;179429062;179429061 |
| N2AB | 25625 | 77098;77099;77100 | chr2:178564336;178564335;178564334 | chr2:179429063;179429062;179429061 |
| N2A | 24698 | 74317;74318;74319 | chr2:178564336;178564335;178564334 | chr2:179429063;179429062;179429061 |
| N2B | 18201 | 54826;54827;54828 | chr2:178564336;178564335;178564334 | chr2:179429063;179429062;179429061 |
| Novex-1 | 18326 | 55201;55202;55203 | chr2:178564336;178564335;178564334 | chr2:179429063;179429062;179429061 |
| Novex-2 | 18393 | 55402;55403;55404 | chr2:178564336;178564335;178564334 | chr2:179429063;179429062;179429061 |
| 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/S | rs2154162524  |
None | 0.999 | N | 0.612 | 0.337 | 0.31411915649 | gnomAD-4.0.0 | 1.20033E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.31251E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.5194 | ambiguous | 0.5486 | ambiguous | -1.922 | Destabilizing | 1.0 | D | 0.79 | deleterious | None | None | None | None | N |
| A/D | 0.9979 | likely_pathogenic | 0.9966 | pathogenic | -3.073 | Highly Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | N |
| A/E | 0.9931 | likely_pathogenic | 0.9898 | pathogenic | -2.878 | Highly Destabilizing | 1.0 | D | 0.792 | deleterious | N | 0.496760286 | None | None | N |
| A/F | 0.9637 | likely_pathogenic | 0.9535 | pathogenic | -0.805 | Destabilizing | 1.0 | D | 0.748 | deleterious | None | None | None | None | N |
| A/G | 0.688 | likely_pathogenic | 0.662 | pathogenic | -1.931 | Destabilizing | 0.999 | D | 0.565 | neutral | N | 0.515118031 | None | None | N |
| A/H | 0.9961 | likely_pathogenic | 0.9946 | pathogenic | -1.911 | Destabilizing | 1.0 | D | 0.759 | deleterious | None | None | None | None | N |
| A/I | 0.557 | ambiguous | 0.513 | ambiguous | -0.47 | Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | N |
| A/K | 0.9975 | likely_pathogenic | 0.9964 | pathogenic | -1.419 | Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | N |
| A/L | 0.6177 | likely_pathogenic | 0.5649 | pathogenic | -0.47 | Destabilizing | 1.0 | D | 0.808 | deleterious | None | None | None | None | N |
| A/M | 0.7636 | likely_pathogenic | 0.7202 | pathogenic | -1.057 | Destabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | N |
| A/N | 0.9808 | likely_pathogenic | 0.9737 | pathogenic | -1.881 | Destabilizing | 1.0 | D | 0.771 | deleterious | None | None | None | None | N |
| A/P | 0.7857 | likely_pathogenic | 0.7704 | pathogenic | -0.792 | Destabilizing | 1.0 | D | 0.807 | deleterious | N | 0.472019759 | None | None | N |
| A/Q | 0.9851 | likely_pathogenic | 0.9802 | pathogenic | -1.702 | Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | N |
| A/R | 0.9911 | likely_pathogenic | 0.9881 | pathogenic | -1.441 | Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | N |
| A/S | 0.412 | ambiguous | 0.3845 | ambiguous | -2.179 | Highly Destabilizing | 0.999 | D | 0.612 | neutral | N | 0.503254746 | None | None | N |
| A/T | 0.3388 | likely_benign | 0.3182 | benign | -1.881 | Destabilizing | 1.0 | D | 0.777 | deleterious | N | 0.48088453 | None | None | N |
| A/V | 0.2333 | likely_benign | 0.2135 | benign | -0.792 | Destabilizing | 0.999 | D | 0.685 | prob.delet. | N | 0.461161295 | None | None | N |
| A/W | 0.9981 | likely_pathogenic | 0.9973 | pathogenic | -1.422 | Destabilizing | 1.0 | D | 0.7 | prob.delet. | None | None | None | None | N |
| A/Y | 0.9928 | likely_pathogenic | 0.9907 | pathogenic | -1.051 | Destabilizing | 1.0 | D | 0.794 | 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.