Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 32038 | 96337;96338;96339 | chr2:178544032;178544031;178544030 | chr2:179408759;179408758;179408757 |
| N2AB | 30397 | 91414;91415;91416 | chr2:178544032;178544031;178544030 | chr2:179408759;179408758;179408757 |
| N2A | 29470 | 88633;88634;88635 | chr2:178544032;178544031;178544030 | chr2:179408759;179408758;179408757 |
| N2B | 22973 | 69142;69143;69144 | chr2:178544032;178544031;178544030 | chr2:179408759;179408758;179408757 |
| Novex-1 | 23098 | 69517;69518;69519 | chr2:178544032;178544031;178544030 | chr2:179408759;179408758;179408757 |
| Novex-2 | 23165 | 69718;69719;69720 | chr2:178544032;178544031;178544030 | chr2:179408759;179408758;179408757 |
| 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 | rs1274429401  |
-1.809 | 0.999 | N | 0.627 | 0.613 | 0.73768680617 | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | N | None | 0 | 8.69E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| V/A | rs1274429401 |
-1.809 | 0.999 | N | 0.627 | 0.613 | 0.73768680617 | gnomAD-4.0.0 | 6.3662E-06 | None | None | None | None | N | None | 0 | 9.1462E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/I | rs753330318 |
-0.782 | 0.997 | N | 0.576 | 0.316 | None | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | N | None | 1.93748E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| V/I | rs753330318 |
-0.782 | 0.997 | N | 0.576 | 0.316 | None | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 4.83E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/I | rs753330318 |
-0.782 | 0.997 | N | 0.576 | 0.316 | None | gnomAD-4.0.0 | 1.85928E-06 | None | None | None | None | N | None | 4.00662E-05 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.6198 | likely_pathogenic | 0.5328 | ambiguous | -0.821 | Destabilizing | 0.999 | D | 0.627 | neutral | N | 0.493010794 | None | None | N |
| V/C | 0.8293 | likely_pathogenic | 0.8221 | pathogenic | -0.877 | Destabilizing | 1.0 | D | 0.812 | deleterious | None | None | None | None | N |
| V/D | 0.991 | likely_pathogenic | 0.9836 | pathogenic | 0.293 | Stabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | N |
| V/E | 0.9755 | likely_pathogenic | 0.9609 | pathogenic | 0.253 | Stabilizing | 1.0 | D | 0.839 | deleterious | D | 0.611071219 | None | None | N |
| V/F | 0.3248 | likely_benign | 0.3056 | benign | -0.762 | Destabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | N |
| V/G | 0.8341 | likely_pathogenic | 0.766 | pathogenic | -1.051 | Destabilizing | 1.0 | D | 0.841 | deleterious | D | 0.579032497 | None | None | N |
| V/H | 0.9632 | likely_pathogenic | 0.953 | pathogenic | -0.628 | Destabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | N |
| V/I | 0.0895 | likely_benign | 0.0866 | benign | -0.33 | Destabilizing | 0.997 | D | 0.576 | neutral | N | 0.44533149 | None | None | N |
| V/K | 0.963 | likely_pathogenic | 0.9486 | pathogenic | -0.412 | Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | N |
| V/L | 0.4607 | ambiguous | 0.407 | ambiguous | -0.33 | Destabilizing | 0.997 | D | 0.651 | neutral | D | 0.543552384 | None | None | N |
| V/M | 0.3942 | ambiguous | 0.3392 | benign | -0.417 | Destabilizing | 1.0 | D | 0.771 | deleterious | None | None | None | None | N |
| V/N | 0.9505 | likely_pathogenic | 0.9192 | pathogenic | -0.193 | Destabilizing | 1.0 | D | 0.86 | deleterious | None | None | None | None | N |
| V/P | 0.9721 | likely_pathogenic | 0.9575 | pathogenic | -0.458 | Destabilizing | 1.0 | D | 0.842 | deleterious | None | None | None | None | N |
| V/Q | 0.9495 | likely_pathogenic | 0.9313 | pathogenic | -0.326 | Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | N |
| V/R | 0.9392 | likely_pathogenic | 0.9201 | pathogenic | -0.104 | Destabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | N |
| V/S | 0.8285 | likely_pathogenic | 0.7589 | pathogenic | -0.816 | Destabilizing | 1.0 | D | 0.832 | deleterious | None | None | None | None | N |
| V/T | 0.6967 | likely_pathogenic | 0.6278 | pathogenic | -0.733 | Destabilizing | 0.999 | D | 0.653 | neutral | None | None | None | None | N |
| V/W | 0.9675 | likely_pathogenic | 0.9607 | pathogenic | -0.838 | Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | N |
| V/Y | 0.8468 | likely_pathogenic | 0.8296 | pathogenic | -0.512 | Destabilizing | 1.0 | D | 0.827 | deleterious | 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.