Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 14443 | 43552;43553;43554 | chr2:178632679;178632678;178632677 | chr2:179497406;179497405;179497404 |
| N2AB | 12802 | 38629;38630;38631 | chr2:178632679;178632678;178632677 | chr2:179497406;179497405;179497404 |
| N2A | 11875 | 35848;35849;35850 | chr2:178632679;178632678;178632677 | chr2:179497406;179497405;179497404 |
| N2B | 5378 | 16357;16358;16359 | chr2:178632679;178632678;178632677 | chr2:179497406;179497405;179497404 |
| Novex-1 | 5503 | 16732;16733;16734 | chr2:178632679;178632678;178632677 | chr2:179497406;179497405;179497404 |
| Novex-2 | 5570 | 16933;16934;16935 | chr2:178632679;178632678;178632677 | chr2:179497406;179497405;179497404 |
| 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/R | rs1470566986  |
-0.586 | 1.0 | D | 0.577 | 0.532 | 0.647582611936 | gnomAD-2.1.1 | 8.08E-06 | None | None | None | None | N | None | 0 | 5.8E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| G/R | rs1470566986 |
-0.586 | 1.0 | D | 0.577 | 0.532 | 0.647582611936 | gnomAD-4.0.0 | 3.18398E-06 | None | None | None | None | N | None | 0 | 4.57373E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.5018 | ambiguous | 0.4688 | ambiguous | -0.456 | Destabilizing | 1.0 | D | 0.571 | neutral | D | 0.614640424 | None | None | N |
| G/C | 0.7695 | likely_pathogenic | 0.712 | pathogenic | -0.714 | Destabilizing | 1.0 | D | 0.576 | neutral | None | None | None | None | N |
| G/D | 0.4263 | ambiguous | 0.3782 | ambiguous | -0.776 | Destabilizing | 1.0 | D | 0.618 | neutral | None | None | None | None | N |
| G/E | 0.5497 | ambiguous | 0.4989 | ambiguous | -0.872 | Destabilizing | 1.0 | D | 0.613 | neutral | D | 0.543233556 | None | None | N |
| G/F | 0.9445 | likely_pathogenic | 0.9281 | pathogenic | -0.9 | Destabilizing | 1.0 | D | 0.532 | neutral | None | None | None | None | N |
| G/H | 0.886 | likely_pathogenic | 0.8413 | pathogenic | -1.005 | Destabilizing | 1.0 | D | 0.549 | neutral | None | None | None | None | N |
| G/I | 0.8889 | likely_pathogenic | 0.8705 | pathogenic | -0.245 | Destabilizing | 1.0 | D | 0.548 | neutral | None | None | None | None | N |
| G/K | 0.8902 | likely_pathogenic | 0.8529 | pathogenic | -1.108 | Destabilizing | 1.0 | D | 0.612 | neutral | None | None | None | None | N |
| G/L | 0.9059 | likely_pathogenic | 0.8844 | pathogenic | -0.245 | Destabilizing | 1.0 | D | 0.608 | neutral | None | None | None | None | N |
| G/M | 0.9183 | likely_pathogenic | 0.8991 | pathogenic | -0.251 | Destabilizing | 1.0 | D | 0.564 | neutral | None | None | None | None | N |
| G/N | 0.5328 | ambiguous | 0.5004 | ambiguous | -0.697 | Destabilizing | 1.0 | D | 0.597 | neutral | None | None | None | None | N |
| G/P | 0.9904 | likely_pathogenic | 0.9903 | pathogenic | -0.276 | Destabilizing | 1.0 | D | 0.589 | neutral | None | None | None | None | N |
| G/Q | 0.8177 | likely_pathogenic | 0.7742 | pathogenic | -0.899 | Destabilizing | 1.0 | D | 0.569 | neutral | None | None | None | None | N |
| G/R | 0.8174 | likely_pathogenic | 0.7713 | pathogenic | -0.749 | Destabilizing | 1.0 | D | 0.577 | neutral | D | 0.654545175 | None | None | N |
| G/S | 0.3273 | likely_benign | 0.3039 | benign | -0.9 | Destabilizing | 1.0 | D | 0.605 | neutral | None | None | None | None | N |
| G/T | 0.7469 | likely_pathogenic | 0.7166 | pathogenic | -0.918 | Destabilizing | 1.0 | D | 0.613 | neutral | None | None | None | None | N |
| G/V | 0.7731 | likely_pathogenic | 0.7391 | pathogenic | -0.276 | Destabilizing | 1.0 | D | 0.612 | neutral | D | 0.653510482 | None | None | N |
| G/W | 0.8852 | likely_pathogenic | 0.8394 | pathogenic | -1.222 | Destabilizing | 1.0 | D | 0.565 | neutral | None | None | None | None | N |
| G/Y | 0.8568 | likely_pathogenic | 0.82 | pathogenic | -0.814 | Destabilizing | 1.0 | D | 0.533 | 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.