Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 30068 | 90427;90428;90429 | chr2:178552698;178552697;178552696 | chr2:179417425;179417424;179417423 |
| N2AB | 28427 | 85504;85505;85506 | chr2:178552698;178552697;178552696 | chr2:179417425;179417424;179417423 |
| N2A | 27500 | 82723;82724;82725 | chr2:178552698;178552697;178552696 | chr2:179417425;179417424;179417423 |
| N2B | 21003 | 63232;63233;63234 | chr2:178552698;178552697;178552696 | chr2:179417425;179417424;179417423 |
| Novex-1 | 21128 | 63607;63608;63609 | chr2:178552698;178552697;178552696 | chr2:179417425;179417424;179417423 |
| Novex-2 | 21195 | 63808;63809;63810 | chr2:178552698;178552697;178552696 | chr2:179417425;179417424;179417423 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/A | rs1281127111  |
-1.319 | 0.999 | D | 0.689 | 0.503 | 0.434497104326 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.86E-06 | 0 |
| E/A | rs1281127111 |
-1.319 | 0.999 | D | 0.689 | 0.503 | 0.434497104326 | gnomAD-4.0.0 | 1.59106E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85788E-06 | 0 | 0 |
| E/G | rs1281127111 |
-1.967 | 1.0 | D | 0.762 | 0.521 | 0.478144874143 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| E/G | rs1281127111 |
-1.967 | 1.0 | D | 0.762 | 0.521 | 0.478144874143 | gnomAD-4.0.0 | 1.59106E-06 | None | None | None | None | N | None | 0 | 2.28634E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/A | 0.568 | likely_pathogenic | 0.467 | ambiguous | -1.711 | Destabilizing | 0.999 | D | 0.689 | prob.neutral | D | 0.529924738 | None | None | N |
| E/C | 0.9661 | likely_pathogenic | 0.9504 | pathogenic | -0.709 | Destabilizing | 1.0 | D | 0.794 | deleterious | None | None | None | None | N |
| E/D | 0.5763 | likely_pathogenic | 0.5024 | ambiguous | -1.566 | Destabilizing | 0.999 | D | 0.625 | neutral | N | 0.488044689 | None | None | N |
| E/F | 0.957 | likely_pathogenic | 0.9413 | pathogenic | -1.441 | Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | N |
| E/G | 0.7344 | likely_pathogenic | 0.616 | pathogenic | -2.086 | Highly Destabilizing | 1.0 | D | 0.762 | deleterious | D | 0.531699165 | None | None | N |
| E/H | 0.9005 | likely_pathogenic | 0.8609 | pathogenic | -1.238 | Destabilizing | 1.0 | D | 0.785 | deleterious | None | None | None | None | N |
| E/I | 0.8698 | likely_pathogenic | 0.8084 | pathogenic | -0.623 | Destabilizing | 1.0 | D | 0.82 | deleterious | None | None | None | None | N |
| E/K | 0.7967 | likely_pathogenic | 0.6997 | pathogenic | -1.493 | Destabilizing | 0.999 | D | 0.674 | neutral | N | 0.508084274 | None | None | N |
| E/L | 0.8413 | likely_pathogenic | 0.7792 | pathogenic | -0.623 | Destabilizing | 1.0 | D | 0.787 | deleterious | None | None | None | None | N |
| E/M | 0.801 | likely_pathogenic | 0.7397 | pathogenic | 0.118 | Stabilizing | 1.0 | D | 0.812 | deleterious | None | None | None | None | N |
| E/N | 0.8552 | likely_pathogenic | 0.783 | pathogenic | -1.664 | Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | N |
| E/P | 0.9988 | likely_pathogenic | 0.9979 | pathogenic | -0.974 | Destabilizing | 1.0 | D | 0.778 | deleterious | None | None | None | None | N |
| E/Q | 0.3218 | likely_benign | 0.2575 | benign | -1.345 | Destabilizing | 1.0 | D | 0.737 | prob.delet. | N | 0.474331299 | None | None | N |
| E/R | 0.878 | likely_pathogenic | 0.8173 | pathogenic | -1.374 | Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | N |
| E/S | 0.5907 | likely_pathogenic | 0.4988 | ambiguous | -2.332 | Highly Destabilizing | 0.999 | D | 0.737 | prob.delet. | None | None | None | None | N |
| E/T | 0.753 | likely_pathogenic | 0.6822 | pathogenic | -1.963 | Destabilizing | 1.0 | D | 0.777 | deleterious | None | None | None | None | N |
| E/V | 0.7251 | likely_pathogenic | 0.6425 | pathogenic | -0.974 | Destabilizing | 1.0 | D | 0.765 | deleterious | N | 0.519328901 | None | None | N |
| E/W | 0.9875 | likely_pathogenic | 0.9825 | pathogenic | -1.547 | Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | N |
| E/Y | 0.9465 | likely_pathogenic | 0.9256 | pathogenic | -1.27 | Destabilizing | 1.0 | D | 0.814 | 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.