Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 32744 | 98455;98456;98457 | chr2:178539835;178539834;178539833 | chr2:179404562;179404561;179404560 |
| N2AB | 31103 | 93532;93533;93534 | chr2:178539835;178539834;178539833 | chr2:179404562;179404561;179404560 |
| N2A | 30176 | 90751;90752;90753 | chr2:178539835;178539834;178539833 | chr2:179404562;179404561;179404560 |
| N2B | 23679 | 71260;71261;71262 | chr2:178539835;178539834;178539833 | chr2:179404562;179404561;179404560 |
| Novex-1 | 23804 | 71635;71636;71637 | chr2:178539835;178539834;178539833 | chr2:179404562;179404561;179404560 |
| Novex-2 | 23871 | 71836;71837;71838 | chr2:178539835;178539834;178539833 | chr2:179404562;179404561;179404560 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/G | rs1177553110  |
-0.087 | 1.0 | N | 0.681 | 0.471 | 0.467416895013 | gnomAD-2.1.1 | 3.18E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 6.48E-05 | 0 |
| D/G | rs1177553110 |
-0.087 | 1.0 | N | 0.681 | 0.471 | 0.467416895013 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| D/G | rs1177553110 |
-0.087 | 1.0 | N | 0.681 | 0.471 | 0.467416895013 | gnomAD-4.0.0 | 4.33773E-06 | None | None | None | None | N | None | 0 | 1.66706E-05 | None | 0 | 0 | None | 0 | 0 | 5.08562E-06 | 0 | 0 |
| D/N | None | None | 1.0 | N | 0.641 | 0.341 | 0.432936702747 | gnomAD-4.0.0 | 1.59121E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.77316E-05 | None | 0 | 0 | 0 | 0 | 0 |
| D/V | rs1177553110 |
0.518 | 1.0 | N | 0.729 | 0.502 | 0.617760060724 | 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 |
| D/V | rs1177553110 |
0.518 | 1.0 | N | 0.729 | 0.502 | 0.617760060724 | gnomAD-4.0.0 | 6.84201E-07 | None | None | None | None | N | None | 0 | 2.23634E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.3331 | likely_benign | 0.4227 | ambiguous | -0.292 | Destabilizing | 1.0 | D | 0.707 | prob.neutral | N | 0.466469193 | None | None | N |
| D/C | 0.7823 | likely_pathogenic | 0.8414 | pathogenic | 0.145 | Stabilizing | 1.0 | D | 0.715 | prob.delet. | None | None | None | None | N |
| D/E | 0.2684 | likely_benign | 0.3369 | benign | -0.303 | Destabilizing | 1.0 | D | 0.476 | neutral | N | 0.448651436 | None | None | N |
| D/F | 0.7828 | likely_pathogenic | 0.8661 | pathogenic | -0.316 | Destabilizing | 1.0 | D | 0.707 | prob.neutral | None | None | None | None | N |
| D/G | 0.3932 | ambiguous | 0.5131 | ambiguous | -0.5 | Destabilizing | 1.0 | D | 0.681 | prob.neutral | N | 0.515897935 | None | None | N |
| D/H | 0.5808 | likely_pathogenic | 0.6672 | pathogenic | -0.358 | Destabilizing | 1.0 | D | 0.663 | neutral | N | 0.515724577 | None | None | N |
| D/I | 0.5319 | ambiguous | 0.6321 | pathogenic | 0.207 | Stabilizing | 1.0 | D | 0.721 | prob.delet. | None | None | None | None | N |
| D/K | 0.6898 | likely_pathogenic | 0.7614 | pathogenic | 0.249 | Stabilizing | 1.0 | D | 0.713 | prob.delet. | None | None | None | None | N |
| D/L | 0.5747 | likely_pathogenic | 0.6629 | pathogenic | 0.207 | Stabilizing | 1.0 | D | 0.729 | prob.delet. | None | None | None | None | N |
| D/M | 0.7601 | likely_pathogenic | 0.8347 | pathogenic | 0.46 | Stabilizing | 1.0 | D | 0.707 | prob.neutral | None | None | None | None | N |
| D/N | 0.1594 | likely_benign | 0.1907 | benign | 0.03 | Stabilizing | 1.0 | D | 0.641 | neutral | N | 0.484132234 | None | None | N |
| D/P | 0.6909 | likely_pathogenic | 0.7549 | pathogenic | 0.063 | Stabilizing | 1.0 | D | 0.705 | prob.neutral | None | None | None | None | N |
| D/Q | 0.6281 | likely_pathogenic | 0.7119 | pathogenic | 0.063 | Stabilizing | 1.0 | D | 0.679 | prob.neutral | None | None | None | None | N |
| D/R | 0.7406 | likely_pathogenic | 0.8028 | pathogenic | 0.316 | Stabilizing | 1.0 | D | 0.711 | prob.delet. | None | None | None | None | N |
| D/S | 0.3073 | likely_benign | 0.3741 | ambiguous | -0.094 | Destabilizing | 1.0 | D | 0.657 | neutral | None | None | None | None | N |
| D/T | 0.4584 | ambiguous | 0.5445 | ambiguous | 0.064 | Stabilizing | 1.0 | D | 0.719 | prob.delet. | None | None | None | None | N |
| D/V | 0.3162 | likely_benign | 0.4044 | ambiguous | 0.063 | Stabilizing | 1.0 | D | 0.729 | prob.delet. | N | 0.441304176 | None | None | N |
| D/W | 0.9544 | likely_pathogenic | 0.9736 | pathogenic | -0.219 | Destabilizing | 1.0 | D | 0.709 | prob.delet. | None | None | None | None | N |
| D/Y | 0.3778 | ambiguous | 0.4722 | ambiguous | -0.093 | Destabilizing | 1.0 | D | 0.696 | prob.neutral | N | 0.486848553 | 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.