Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 9152 | 27679;27680;27681 | chr2:178712468;178712467;178712466 | chr2:179577195;179577194;179577193 |
| N2AB | 8835 | 26728;26729;26730 | chr2:178712468;178712467;178712466 | chr2:179577195;179577194;179577193 |
| N2A | 7908 | 23947;23948;23949 | chr2:178712468;178712467;178712466 | chr2:179577195;179577194;179577193 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | None | None | 0.002 | D | 0.185 | 0.232 | 0.45783149361 | gnomAD-4.0.0 | 1.59118E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43279E-05 | 0 |
| V/I | rs548808954  |
-0.645 | None | N | 0.13 | 0.116 | 0.132336055621 | gnomAD-2.1.1 | 8.03E-06 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| V/I | rs548808954 |
-0.645 | None | N | 0.13 | 0.116 | 0.132336055621 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 2.07297E-04 | 0 |
| V/I | rs548808954 |
-0.645 | None | N | 0.13 | 0.116 | 0.132336055621 | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 0 | 0 | None | None | None | 1E-03 | None |
| V/I | rs548808954 |
-0.645 | None | N | 0.13 | 0.116 | 0.132336055621 | gnomAD-4.0.0 | 1.85903E-06 | None | None | None | None | N | None | 0 | 1.66706E-05 | None | 0 | 0 | None | 0 | 0 | 8.47614E-07 | 1.09801E-05 | 0 |
| V/L | None | None | None | N | 0.157 | 0.118 | 0.0920862733494 | gnomAD-4.0.0 | 6.842E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99452E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.3702 | ambiguous | 0.3112 | benign | -1.627 | Destabilizing | 0.002 | N | 0.185 | neutral | D | 0.5283658 | None | None | N |
| V/C | 0.7592 | likely_pathogenic | 0.6692 | pathogenic | -1.164 | Destabilizing | 0.935 | D | 0.573 | neutral | None | None | None | None | N |
| V/D | 0.7497 | likely_pathogenic | 0.7055 | pathogenic | -1.534 | Destabilizing | 0.555 | D | 0.629 | neutral | None | None | None | None | N |
| V/E | 0.6498 | likely_pathogenic | 0.6206 | pathogenic | -1.444 | Destabilizing | 0.484 | N | 0.603 | neutral | D | 0.525970352 | None | None | N |
| V/F | 0.1764 | likely_benign | 0.1471 | benign | -1.098 | Destabilizing | 0.38 | N | 0.607 | neutral | None | None | None | None | N |
| V/G | 0.5281 | ambiguous | 0.4495 | ambiguous | -2.03 | Highly Destabilizing | 0.062 | N | 0.607 | neutral | D | 0.525970352 | None | None | N |
| V/H | 0.7891 | likely_pathogenic | 0.7271 | pathogenic | -1.548 | Destabilizing | 0.935 | D | 0.609 | neutral | None | None | None | None | N |
| V/I | 0.0582 | likely_benign | 0.0564 | benign | -0.579 | Destabilizing | None | N | 0.13 | neutral | N | 0.401897639 | None | None | N |
| V/K | 0.71 | likely_pathogenic | 0.672 | pathogenic | -1.449 | Destabilizing | 0.38 | N | 0.603 | neutral | None | None | None | None | N |
| V/L | 0.1113 | likely_benign | 0.0937 | benign | -0.579 | Destabilizing | None | N | 0.157 | neutral | N | 0.412167774 | None | None | N |
| V/M | 0.1283 | likely_benign | 0.1119 | benign | -0.517 | Destabilizing | 0.38 | N | 0.582 | neutral | None | None | None | None | N |
| V/N | 0.5838 | likely_pathogenic | 0.4834 | ambiguous | -1.433 | Destabilizing | 0.555 | D | 0.648 | neutral | None | None | None | None | N |
| V/P | 0.8465 | likely_pathogenic | 0.7675 | pathogenic | -0.895 | Destabilizing | 0.555 | D | 0.597 | neutral | None | None | None | None | N |
| V/Q | 0.6674 | likely_pathogenic | 0.6146 | pathogenic | -1.45 | Destabilizing | 0.791 | D | 0.621 | neutral | None | None | None | None | N |
| V/R | 0.649 | likely_pathogenic | 0.5852 | pathogenic | -1.059 | Destabilizing | 0.555 | D | 0.65 | neutral | None | None | None | None | N |
| V/S | 0.5327 | ambiguous | 0.4338 | ambiguous | -2.004 | Highly Destabilizing | 0.081 | N | 0.539 | neutral | None | None | None | None | N |
| V/T | 0.3918 | ambiguous | 0.3196 | benign | -1.779 | Destabilizing | 0.002 | N | 0.365 | neutral | None | None | None | None | N |
| V/W | 0.8177 | likely_pathogenic | 0.759 | pathogenic | -1.385 | Destabilizing | 0.935 | D | 0.641 | neutral | None | None | None | None | N |
| V/Y | 0.5952 | likely_pathogenic | 0.5079 | ambiguous | -1.049 | Destabilizing | 0.555 | D | 0.626 | 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.