Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 25133 | 75622;75623;75624 | chr2:178570735;178570734;178570733 | chr2:179435462;179435461;179435460 |
| N2AB | 23492 | 70699;70700;70701 | chr2:178570735;178570734;178570733 | chr2:179435462;179435461;179435460 |
| N2A | 22565 | 67918;67919;67920 | chr2:178570735;178570734;178570733 | chr2:179435462;179435461;179435460 |
| N2B | 16068 | 48427;48428;48429 | chr2:178570735;178570734;178570733 | chr2:179435462;179435461;179435460 |
| Novex-1 | 16193 | 48802;48803;48804 | chr2:178570735;178570734;178570733 | chr2:179435462;179435461;179435460 |
| Novex-2 | 16260 | 49003;49004;49005 | chr2:178570735;178570734;178570733 | chr2:179435462;179435461;179435460 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/S | rs775396902  |
-1.056 | 0.414 | N | 0.477 | 0.311 | 0.188950314367 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.9E-06 | 0 |
| A/S | rs775396902 |
-1.056 | 0.414 | N | 0.477 | 0.311 | 0.188950314367 | gnomAD-4.0.0 | 1.59163E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85925E-06 | 0 | 0 |
| A/V | rs772239178 |
0.775 | 0.958 | N | 0.801 | 0.391 | 0.325533332567 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.9E-06 | 0 |
| A/V | rs772239178 |
0.775 | 0.958 | N | 0.801 | 0.391 | 0.325533332567 | gnomAD-4.0.0 | 1.36856E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79913E-06 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.5484 | ambiguous | 0.5745 | pathogenic | -1.411 | Destabilizing | 1.0 | D | 0.83 | deleterious | None | None | None | None | N |
| A/D | 0.984 | likely_pathogenic | 0.983 | pathogenic | -1.788 | Destabilizing | 0.991 | D | 0.875 | deleterious | None | None | None | None | N |
| A/E | 0.9803 | likely_pathogenic | 0.9783 | pathogenic | -1.751 | Destabilizing | 0.988 | D | 0.82 | deleterious | N | 0.506018861 | None | None | N |
| A/F | 0.8545 | likely_pathogenic | 0.8547 | pathogenic | -1.21 | Destabilizing | 0.995 | D | 0.889 | deleterious | None | None | None | None | N |
| A/G | 0.2078 | likely_benign | 0.2272 | benign | -1.551 | Destabilizing | 0.919 | D | 0.768 | deleterious | N | 0.479267326 | None | None | N |
| A/H | 0.982 | likely_pathogenic | 0.9822 | pathogenic | -1.731 | Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | N |
| A/I | 0.6664 | likely_pathogenic | 0.6289 | pathogenic | -0.375 | Destabilizing | 0.995 | D | 0.835 | deleterious | None | None | None | None | N |
| A/K | 0.9896 | likely_pathogenic | 0.9889 | pathogenic | -1.429 | Destabilizing | 0.991 | D | 0.821 | deleterious | None | None | None | None | N |
| A/L | 0.6396 | likely_pathogenic | 0.6075 | pathogenic | -0.375 | Destabilizing | 0.968 | D | 0.784 | deleterious | None | None | None | None | N |
| A/M | 0.6188 | likely_pathogenic | 0.5857 | pathogenic | -0.385 | Destabilizing | 1.0 | D | 0.825 | deleterious | None | None | None | None | N |
| A/N | 0.9612 | likely_pathogenic | 0.9565 | pathogenic | -1.341 | Destabilizing | 0.991 | D | 0.885 | deleterious | None | None | None | None | N |
| A/P | 0.9875 | likely_pathogenic | 0.9847 | pathogenic | -0.609 | Destabilizing | 0.994 | D | 0.839 | deleterious | N | 0.506018861 | None | None | N |
| A/Q | 0.9672 | likely_pathogenic | 0.9669 | pathogenic | -1.419 | Destabilizing | 0.991 | D | 0.834 | deleterious | None | None | None | None | N |
| A/R | 0.9746 | likely_pathogenic | 0.9733 | pathogenic | -1.156 | Destabilizing | 0.991 | D | 0.839 | deleterious | None | None | None | None | N |
| A/S | 0.2548 | likely_benign | 0.2573 | benign | -1.773 | Destabilizing | 0.414 | N | 0.477 | neutral | N | 0.505511882 | None | None | N |
| A/T | 0.2756 | likely_benign | 0.229 | benign | -1.62 | Destabilizing | 0.919 | D | 0.753 | deleterious | N | 0.467404041 | None | None | N |
| A/V | 0.3404 | ambiguous | 0.3088 | benign | -0.609 | Destabilizing | 0.958 | D | 0.801 | deleterious | N | 0.486085877 | None | None | N |
| A/W | 0.9873 | likely_pathogenic | 0.988 | pathogenic | -1.636 | Destabilizing | 1.0 | D | 0.879 | deleterious | None | None | None | None | N |
| A/Y | 0.9574 | likely_pathogenic | 0.9584 | pathogenic | -1.202 | Destabilizing | 1.0 | D | 0.893 | 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.