Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 9997 | 30214;30215;30216 | chr2:178704381;178704380;178704379 | chr2:179569108;179569107;179569106 |
| N2AB | 9680 | 29263;29264;29265 | chr2:178704381;178704380;178704379 | chr2:179569108;179569107;179569106 |
| N2A | 8753 | 26482;26483;26484 | chr2:178704381;178704380;178704379 | chr2:179569108;179569107;179569106 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/N | rs1287288966  |
0.008 | 1.0 | None | 0.617 | 0.315 | 0.166414681773 | 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 |
| D/N | rs1287288966 |
0.008 | 1.0 | None | 0.617 | 0.315 | 0.166414681773 | 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/N | rs1287288966 |
0.008 | 1.0 | None | 0.617 | 0.315 | 0.166414681773 | gnomAD-4.0.0 | 3.8442E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 7.18222E-06 | 0 | 0 |
| D/V | rs1211337787 |
0.274 | 1.0 | None | 0.765 | 0.376 | 0.50143340055 | gnomAD-2.1.1 | 4.01E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.86E-06 | 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 | 0.5126 | ambiguous | 0.624 | pathogenic | -0.19 | Destabilizing | 1.0 | D | 0.748 | deleterious | None | None | None | None | N |
| D/C | 0.9659 | likely_pathogenic | 0.9827 | pathogenic | 0.028 | Stabilizing | 1.0 | D | 0.731 | prob.delet. | None | None | None | None | N |
| D/E | 0.4906 | ambiguous | 0.5998 | pathogenic | -0.437 | Destabilizing | 1.0 | D | 0.403 | neutral | None | None | None | None | N |
| D/F | 0.954 | likely_pathogenic | 0.9729 | pathogenic | -0.218 | Destabilizing | 1.0 | D | 0.756 | deleterious | None | None | None | None | N |
| D/G | 0.3939 | ambiguous | 0.4749 | ambiguous | -0.405 | Destabilizing | 1.0 | D | 0.744 | deleterious | None | None | None | None | N |
| D/H | 0.7188 | likely_pathogenic | 0.7949 | pathogenic | -0.236 | Destabilizing | 1.0 | D | 0.694 | prob.neutral | None | None | None | None | N |
| D/I | 0.9173 | likely_pathogenic | 0.9519 | pathogenic | 0.328 | Stabilizing | 1.0 | D | 0.757 | deleterious | None | None | None | None | N |
| D/K | 0.8339 | likely_pathogenic | 0.8894 | pathogenic | 0.107 | Stabilizing | 1.0 | D | 0.759 | deleterious | None | None | None | None | N |
| D/L | 0.8934 | likely_pathogenic | 0.9327 | pathogenic | 0.328 | Stabilizing | 1.0 | D | 0.763 | deleterious | None | None | None | None | N |
| D/M | 0.9558 | likely_pathogenic | 0.9743 | pathogenic | 0.45 | Stabilizing | 1.0 | D | 0.737 | prob.delet. | None | None | None | None | N |
| D/N | 0.198 | likely_benign | 0.2415 | benign | -0.05 | Destabilizing | 1.0 | D | 0.617 | neutral | None | None | None | None | N |
| D/P | 0.7918 | likely_pathogenic | 0.8822 | pathogenic | 0.179 | Stabilizing | 1.0 | D | 0.737 | prob.delet. | None | None | None | None | N |
| D/Q | 0.8453 | likely_pathogenic | 0.9017 | pathogenic | -0.026 | Destabilizing | 1.0 | D | 0.664 | neutral | None | None | None | None | N |
| D/R | 0.8677 | likely_pathogenic | 0.9147 | pathogenic | 0.244 | Stabilizing | 1.0 | D | 0.751 | deleterious | None | None | None | None | N |
| D/S | 0.36 | ambiguous | 0.4433 | ambiguous | -0.187 | Destabilizing | 1.0 | D | 0.659 | neutral | None | None | None | None | N |
| D/T | 0.67 | likely_pathogenic | 0.755 | pathogenic | -0.034 | Destabilizing | 1.0 | D | 0.763 | deleterious | None | None | None | None | N |
| D/V | 0.7727 | likely_pathogenic | 0.8526 | pathogenic | 0.179 | Stabilizing | 1.0 | D | 0.765 | deleterious | None | None | None | None | N |
| D/W | 0.9872 | likely_pathogenic | 0.9923 | pathogenic | -0.151 | Destabilizing | 1.0 | D | 0.731 | prob.delet. | None | None | None | None | N |
| D/Y | 0.6932 | likely_pathogenic | 0.7859 | pathogenic | -0.004 | Destabilizing | 1.0 | D | 0.747 | 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.