Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 35710 | 107353;107354;107355 | chr2:178528623;178528622;178528621 | chr2:179393350;179393349;179393348 |
| N2AB | 34069 | 102430;102431;102432 | chr2:178528623;178528622;178528621 | chr2:179393350;179393349;179393348 |
| N2A | 33142 | 99649;99650;99651 | chr2:178528623;178528622;178528621 | chr2:179393350;179393349;179393348 |
| N2B | 26645 | 80158;80159;80160 | chr2:178528623;178528622;178528621 | chr2:179393350;179393349;179393348 |
| Novex-1 | 26770 | 80533;80534;80535 | chr2:178528623;178528622;178528621 | chr2:179393350;179393349;179393348 |
| Novex-2 | 26837 | 80734;80735;80736 | chr2:178528623;178528622;178528621 | chr2:179393350;179393349;179393348 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/C | None | None | 1.0 | N | 0.84 | 0.438 | 0.370789594751 | gnomAD-4.0.0 | 6.84788E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.16236E-05 | 0 |
| S/F | rs1194921895  |
-0.67 | 1.0 | N | 0.908 | 0.467 | 0.514811571519 | gnomAD-2.1.1 | 4.06E-06 | None | None | None | None | N | None | 6.57E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| S/F | rs1194921895 |
-0.67 | 1.0 | N | 0.908 | 0.467 | 0.514811571519 | gnomAD-4.0.0 | 1.36958E-06 | None | None | None | None | N | None | 5.97729E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| S/P | None | None | 1.0 | N | 0.877 | 0.435 | 0.141422826196 | gnomAD-4.0.0 | 6.8473E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99879E-07 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.1918 | likely_benign | 0.2186 | benign | -0.385 | Destabilizing | 0.997 | D | 0.446 | neutral | N | 0.474295589 | None | None | N |
| S/C | 0.3798 | ambiguous | 0.4399 | ambiguous | -0.321 | Destabilizing | 1.0 | D | 0.84 | deleterious | N | 0.489422316 | None | None | N |
| S/D | 0.6382 | likely_pathogenic | 0.6892 | pathogenic | 0.377 | Stabilizing | 0.999 | D | 0.607 | neutral | None | None | None | None | N |
| S/E | 0.8334 | likely_pathogenic | 0.8603 | pathogenic | 0.298 | Stabilizing | 0.999 | D | 0.595 | neutral | None | None | None | None | N |
| S/F | 0.637 | likely_pathogenic | 0.6827 | pathogenic | -0.953 | Destabilizing | 1.0 | D | 0.908 | deleterious | N | 0.470557593 | None | None | N |
| S/G | 0.201 | likely_benign | 0.2233 | benign | -0.509 | Destabilizing | 0.999 | D | 0.526 | neutral | None | None | None | None | N |
| S/H | 0.7113 | likely_pathogenic | 0.7605 | pathogenic | -0.947 | Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | N |
| S/I | 0.5409 | ambiguous | 0.6049 | pathogenic | -0.188 | Destabilizing | 1.0 | D | 0.886 | deleterious | None | None | None | None | N |
| S/K | 0.9501 | likely_pathogenic | 0.958 | pathogenic | -0.374 | Destabilizing | 0.999 | D | 0.595 | neutral | None | None | None | None | N |
| S/L | 0.3408 | ambiguous | 0.3917 | ambiguous | -0.188 | Destabilizing | 1.0 | D | 0.787 | deleterious | None | None | None | None | N |
| S/M | 0.5321 | ambiguous | 0.5706 | pathogenic | -0.058 | Destabilizing | 1.0 | D | 0.85 | deleterious | None | None | None | None | N |
| S/N | 0.2292 | likely_benign | 0.2707 | benign | -0.143 | Destabilizing | 0.999 | D | 0.592 | neutral | None | None | None | None | N |
| S/P | 0.2706 | likely_benign | 0.3206 | benign | -0.224 | Destabilizing | 1.0 | D | 0.877 | deleterious | N | 0.434371764 | None | None | N |
| S/Q | 0.8267 | likely_pathogenic | 0.8557 | pathogenic | -0.341 | Destabilizing | 1.0 | D | 0.758 | deleterious | None | None | None | None | N |
| S/R | 0.9286 | likely_pathogenic | 0.9415 | pathogenic | -0.207 | Destabilizing | 1.0 | D | 0.877 | deleterious | None | None | None | None | N |
| S/T | 0.1869 | likely_benign | 0.2022 | benign | -0.259 | Destabilizing | 0.999 | D | 0.499 | neutral | N | 0.489667687 | None | None | N |
| S/V | 0.5656 | likely_pathogenic | 0.6254 | pathogenic | -0.224 | Destabilizing | 1.0 | D | 0.869 | deleterious | None | None | None | None | N |
| S/W | 0.7768 | likely_pathogenic | 0.8046 | pathogenic | -0.961 | Destabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | N |
| S/Y | 0.5592 | ambiguous | 0.6139 | pathogenic | -0.666 | Destabilizing | 1.0 | D | 0.906 | deleterious | N | 0.466202727 | 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.