Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 35425 | 106498;106499;106500 | chr2:178530342;178530341;178530340 | chr2:179395069;179395068;179395067 |
| N2AB | 33784 | 101575;101576;101577 | chr2:178530342;178530341;178530340 | chr2:179395069;179395068;179395067 |
| N2A | 32857 | 98794;98795;98796 | chr2:178530342;178530341;178530340 | chr2:179395069;179395068;179395067 |
| N2B | 26360 | 79303;79304;79305 | chr2:178530342;178530341;178530340 | chr2:179395069;179395068;179395067 |
| Novex-1 | 26485 | 79678;79679;79680 | chr2:178530342;178530341;178530340 | chr2:179395069;179395068;179395067 |
| Novex-2 | 26552 | 79879;79880;79881 | chr2:178530342;178530341;178530340 | chr2:179395069;179395068;179395067 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | rs1204851576  |
-0.205 | 0.999 | N | 0.533 | 0.199 | 0.336647302497 | gnomAD-2.1.1 | 4.01E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 4.64E-05 | 0 | 0 |
| G/A | rs1204851576 |
-0.205 | 0.999 | N | 0.533 | 0.199 | 0.336647302497 | gnomAD-4.0.0 | 1.59096E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 1.88296E-05 | 0 | 0 | 0 | 0 |
| G/R | rs775097433 |
-0.466 | 1.0 | N | 0.715 | 0.269 | 0.7408462064 | gnomAD-2.1.1 | 4.01E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.86E-06 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.1263 | likely_benign | 0.1386 | benign | -0.356 | Destabilizing | 0.999 | D | 0.533 | neutral | N | 0.461060586 | None | None | N |
| G/C | 0.3572 | ambiguous | 0.3838 | ambiguous | -0.884 | Destabilizing | 1.0 | D | 0.733 | prob.delet. | None | None | None | None | N |
| G/D | 0.3055 | likely_benign | 0.2885 | benign | -0.421 | Destabilizing | 1.0 | D | 0.741 | deleterious | None | None | None | None | N |
| G/E | 0.2512 | likely_benign | 0.2519 | benign | -0.567 | Destabilizing | 1.0 | D | 0.738 | prob.delet. | N | 0.440146596 | None | None | N |
| G/F | 0.6359 | likely_pathogenic | 0.6586 | pathogenic | -0.971 | Destabilizing | 1.0 | D | 0.743 | deleterious | None | None | None | None | N |
| G/H | 0.5332 | ambiguous | 0.5369 | ambiguous | -0.711 | Destabilizing | 1.0 | D | 0.715 | prob.delet. | None | None | None | None | N |
| G/I | 0.3241 | likely_benign | 0.3626 | ambiguous | -0.398 | Destabilizing | 1.0 | D | 0.751 | deleterious | None | None | None | None | N |
| G/K | 0.4633 | ambiguous | 0.4591 | ambiguous | -0.866 | Destabilizing | 1.0 | D | 0.739 | prob.delet. | None | None | None | None | N |
| G/L | 0.4671 | ambiguous | 0.5034 | ambiguous | -0.398 | Destabilizing | 1.0 | D | 0.747 | deleterious | None | None | None | None | N |
| G/M | 0.5527 | ambiguous | 0.5922 | pathogenic | -0.46 | Destabilizing | 1.0 | D | 0.724 | prob.delet. | None | None | None | None | N |
| G/N | 0.3873 | ambiguous | 0.3752 | ambiguous | -0.518 | Destabilizing | 1.0 | D | 0.669 | neutral | None | None | None | None | N |
| G/P | 0.6687 | likely_pathogenic | 0.6547 | pathogenic | -0.348 | Destabilizing | 1.0 | D | 0.724 | prob.delet. | None | None | None | None | N |
| G/Q | 0.3966 | ambiguous | 0.4052 | ambiguous | -0.773 | Destabilizing | 1.0 | D | 0.741 | deleterious | None | None | None | None | N |
| G/R | 0.3398 | likely_benign | 0.346 | ambiguous | -0.496 | Destabilizing | 1.0 | D | 0.715 | prob.delet. | N | 0.464908968 | None | None | N |
| G/S | 0.1046 | likely_benign | 0.1108 | benign | -0.703 | Destabilizing | 1.0 | D | 0.661 | neutral | None | None | None | None | N |
| G/T | 0.1966 | likely_benign | 0.2131 | benign | -0.775 | Destabilizing | 1.0 | D | 0.738 | prob.delet. | None | None | None | None | N |
| G/V | 0.2294 | likely_benign | 0.2583 | benign | -0.348 | Destabilizing | 1.0 | D | 0.755 | deleterious | N | 0.506216873 | None | None | N |
| G/W | 0.5567 | ambiguous | 0.5684 | pathogenic | -1.16 | Destabilizing | 1.0 | D | 0.708 | prob.delet. | N | 0.518551452 | None | None | N |
| G/Y | 0.5229 | ambiguous | 0.5336 | ambiguous | -0.795 | Destabilizing | 1.0 | D | 0.739 | prob.delet. | 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.