Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 20413 | 61462;61463;61464 | chr2:178590488;178590487;178590486 | chr2:179455215;179455214;179455213 |
| N2AB | 18772 | 56539;56540;56541 | chr2:178590488;178590487;178590486 | chr2:179455215;179455214;179455213 |
| N2A | 17845 | 53758;53759;53760 | chr2:178590488;178590487;178590486 | chr2:179455215;179455214;179455213 |
| N2B | 11348 | 34267;34268;34269 | chr2:178590488;178590487;178590486 | chr2:179455215;179455214;179455213 |
| Novex-1 | 11473 | 34642;34643;34644 | chr2:178590488;178590487;178590486 | chr2:179455215;179455214;179455213 |
| Novex-2 | 11540 | 34843;34844;34845 | chr2:178590488;178590487;178590486 | chr2:179455215;179455214;179455213 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/S | rs1318733792  |
-1.042 | None | N | 0.185 | 0.1 | 0.0666544352282 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 6.49E-05 | 0 |
| P/S | rs1318733792 |
-1.042 | None | N | 0.185 | 0.1 | 0.0666544352282 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| P/S | rs1318733792 |
-1.042 | None | N | 0.185 | 0.1 | 0.0666544352282 | gnomAD-4.0.0 | 6.58111E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.47154E-05 | 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 | 0.0513 | likely_benign | 0.065 | benign | -1.026 | Destabilizing | None | N | 0.197 | neutral | N | 0.383279301 | None | None | N |
| P/C | 0.3901 | ambiguous | 0.426 | ambiguous | -0.639 | Destabilizing | 0.356 | N | 0.536 | neutral | None | None | None | None | N |
| P/D | 0.3939 | ambiguous | 0.3737 | ambiguous | -0.77 | Destabilizing | 0.031 | N | 0.382 | neutral | None | None | None | None | N |
| P/E | 0.2342 | likely_benign | 0.2378 | benign | -0.836 | Destabilizing | 0.031 | N | 0.385 | neutral | None | None | None | None | N |
| P/F | 0.4115 | ambiguous | 0.4613 | ambiguous | -0.977 | Destabilizing | 0.356 | N | 0.572 | neutral | None | None | None | None | N |
| P/G | 0.195 | likely_benign | 0.2186 | benign | -1.252 | Destabilizing | None | N | 0.225 | neutral | None | None | None | None | N |
| P/H | 0.213 | likely_benign | 0.2301 | benign | -0.794 | Destabilizing | 0.56 | D | 0.533 | neutral | N | 0.469052846 | None | None | N |
| P/I | 0.2035 | likely_benign | 0.2396 | benign | -0.542 | Destabilizing | 0.072 | N | 0.554 | neutral | None | None | None | None | N |
| P/K | 0.259 | likely_benign | 0.2748 | benign | -0.856 | Destabilizing | 0.031 | N | 0.384 | neutral | None | None | None | None | N |
| P/L | 0.1079 | likely_benign | 0.1231 | benign | -0.542 | Destabilizing | 0.012 | N | 0.468 | neutral | N | 0.422587051 | None | None | N |
| P/M | 0.2112 | likely_benign | 0.2535 | benign | -0.433 | Destabilizing | 0.356 | N | 0.533 | neutral | None | None | None | None | N |
| P/N | 0.2462 | likely_benign | 0.2672 | benign | -0.524 | Destabilizing | 0.072 | N | 0.457 | neutral | None | None | None | None | N |
| P/Q | 0.1475 | likely_benign | 0.1651 | benign | -0.753 | Destabilizing | 0.136 | N | 0.455 | neutral | None | None | None | None | N |
| P/R | 0.211 | likely_benign | 0.215 | benign | -0.296 | Destabilizing | 0.055 | N | 0.521 | neutral | N | 0.443751757 | None | None | N |
| P/S | 0.0989 | likely_benign | 0.1128 | benign | -0.939 | Destabilizing | None | N | 0.185 | neutral | N | 0.397189961 | None | None | N |
| P/T | 0.0762 | likely_benign | 0.0847 | benign | -0.902 | Destabilizing | None | N | 0.213 | neutral | N | 0.424760564 | None | None | N |
| P/V | 0.1329 | likely_benign | 0.1608 | benign | -0.668 | Destabilizing | 0.016 | N | 0.445 | neutral | None | None | None | None | N |
| P/W | 0.5497 | ambiguous | 0.5891 | pathogenic | -1.092 | Destabilizing | 0.864 | D | 0.529 | neutral | None | None | None | None | N |
| P/Y | 0.3626 | ambiguous | 0.3888 | ambiguous | -0.814 | Destabilizing | 0.356 | N | 0.557 | neutral | 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.