Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 20094 | 60505;60506;60507 | chr2:178591445;178591444;178591443 | chr2:179456172;179456171;179456170 |
| N2AB | 18453 | 55582;55583;55584 | chr2:178591445;178591444;178591443 | chr2:179456172;179456171;179456170 |
| N2A | 17526 | 52801;52802;52803 | chr2:178591445;178591444;178591443 | chr2:179456172;179456171;179456170 |
| N2B | 11029 | 33310;33311;33312 | chr2:178591445;178591444;178591443 | chr2:179456172;179456171;179456170 |
| Novex-1 | 11154 | 33685;33686;33687 | chr2:178591445;178591444;178591443 | chr2:179456172;179456171;179456170 |
| Novex-2 | 11221 | 33886;33887;33888 | chr2:178591445;178591444;178591443 | chr2:179456172;179456171;179456170 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | None | None | 0.489 | N | 0.443 | 0.168 | 0.183819452728 | gnomAD-4.0.0 | 2.07046E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.80729E-06 | 0 | 1.67073E-05 |
| T/S | rs772591561  |
-0.384 | 0.058 | N | 0.24 | 0.18 | 0.0716867268079 | gnomAD-2.1.1 | 2.23E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 3.12663E-04 | None | 0 | None | 0 | 0 | 0 |
| T/S | rs772591561 |
-0.384 | 0.058 | N | 0.24 | 0.18 | 0.0716867268079 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 1.9425E-04 | None | 0 | 0 | 0 | 0 | 0 |
| T/S | rs772591561 |
-0.384 | 0.058 | N | 0.24 | 0.18 | 0.0716867268079 | gnomAD-4.0.0 | 5.62147E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.78835E-04 | None | 0 | 0 | 0 | 0 | 1.61441E-05 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.1073 | likely_benign | 0.0916 | benign | -0.658 | Destabilizing | 0.489 | N | 0.443 | neutral | N | 0.467001471 | None | None | N |
| T/C | 0.5695 | likely_pathogenic | 0.4497 | ambiguous | -0.328 | Destabilizing | 0.998 | D | 0.606 | neutral | None | None | None | None | N |
| T/D | 0.5083 | ambiguous | 0.435 | ambiguous | -0.03 | Destabilizing | 0.956 | D | 0.535 | neutral | None | None | None | None | N |
| T/E | 0.4173 | ambiguous | 0.3636 | ambiguous | -0.078 | Destabilizing | 0.956 | D | 0.543 | neutral | None | None | None | None | N |
| T/F | 0.5434 | ambiguous | 0.4348 | ambiguous | -1.055 | Destabilizing | 0.978 | D | 0.637 | neutral | None | None | None | None | N |
| T/G | 0.2593 | likely_benign | 0.2406 | benign | -0.84 | Destabilizing | 0.754 | D | 0.529 | neutral | None | None | None | None | N |
| T/H | 0.4291 | ambiguous | 0.353 | ambiguous | -1.245 | Destabilizing | 0.994 | D | 0.636 | neutral | None | None | None | None | N |
| T/I | 0.4854 | ambiguous | 0.3776 | ambiguous | -0.284 | Destabilizing | 0.971 | D | 0.587 | neutral | N | 0.457008787 | None | None | N |
| T/K | 0.4031 | ambiguous | 0.3484 | ambiguous | -0.489 | Destabilizing | 0.915 | D | 0.541 | neutral | None | None | None | None | N |
| T/L | 0.2396 | likely_benign | 0.1817 | benign | -0.284 | Destabilizing | 0.86 | D | 0.513 | neutral | None | None | None | None | N |
| T/M | 0.1392 | likely_benign | 0.109 | benign | 0.127 | Stabilizing | 0.998 | D | 0.595 | neutral | None | None | None | None | N |
| T/N | 0.1601 | likely_benign | 0.1289 | benign | -0.33 | Destabilizing | 0.89 | D | 0.544 | neutral | N | 0.447626276 | None | None | N |
| T/P | 0.863 | likely_pathogenic | 0.8423 | pathogenic | -0.378 | Destabilizing | 0.971 | D | 0.584 | neutral | N | 0.456501808 | None | None | N |
| T/Q | 0.3064 | likely_benign | 0.2692 | benign | -0.583 | Destabilizing | 0.956 | D | 0.588 | neutral | None | None | None | None | N |
| T/R | 0.4302 | ambiguous | 0.3667 | ambiguous | -0.238 | Destabilizing | 0.956 | D | 0.585 | neutral | None | None | None | None | N |
| T/S | 0.1073 | likely_benign | 0.0905 | benign | -0.588 | Destabilizing | 0.058 | N | 0.24 | neutral | N | 0.373685878 | None | None | N |
| T/V | 0.3049 | likely_benign | 0.2312 | benign | -0.378 | Destabilizing | 0.86 | D | 0.491 | neutral | None | None | None | None | N |
| T/W | 0.8489 | likely_pathogenic | 0.7896 | pathogenic | -0.992 | Destabilizing | 0.998 | D | 0.678 | prob.neutral | None | None | None | None | N |
| T/Y | 0.5064 | ambiguous | 0.4204 | ambiguous | -0.73 | Destabilizing | 0.993 | D | 0.643 | 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.