Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 32797 | 98614;98615;98616 | chr2:178539676;178539675;178539674 | chr2:179404403;179404402;179404401 |
| N2AB | 31156 | 93691;93692;93693 | chr2:178539676;178539675;178539674 | chr2:179404403;179404402;179404401 |
| N2A | 30229 | 90910;90911;90912 | chr2:178539676;178539675;178539674 | chr2:179404403;179404402;179404401 |
| N2B | 23732 | 71419;71420;71421 | chr2:178539676;178539675;178539674 | chr2:179404403;179404402;179404401 |
| Novex-1 | 23857 | 71794;71795;71796 | chr2:178539676;178539675;178539674 | chr2:179404403;179404402;179404401 |
| Novex-2 | 23924 | 71995;71996;71997 | chr2:178539676;178539675;178539674 | chr2:179404403;179404402;179404401 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/K | None | None | 0.181 | N | 0.294 | 0.097 | 0.166414681773 | gnomAD-4.0.0 | 6.84252E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99449E-07 | 0 | 0 |
| N/S | rs149001703  |
-0.188 | 0.044 | N | 0.399 | 0.176 | None | gnomAD-2.1.1 | 4.38233E-03 | None | None | None | None | N | None | 9.92638E-04 | 6.11136E-03 | None | 1.64537E-03 | 0 | None | 8.49673E-04 | None | 8.02697E-04 | 6.9317E-03 | 5.34008E-03 |
| N/S | rs149001703 |
-0.188 | 0.044 | N | 0.399 | 0.176 | None | gnomAD-3.1.2 | 4.97705E-03 | None | None | None | None | N | None | 1.18329E-03 | 1.40836E-02 | 3.28947E-03 | 5.76701E-04 | 0 | None | 2.8238E-04 | 3.16456E-03 | 6.77842E-03 | 4.14594E-04 | 1.00478E-02 |
| N/S | rs149001703 |
-0.188 | 0.044 | N | 0.399 | 0.176 | None | 1000 genomes | 3.99361E-03 | None | None | None | None | N | None | 0 | 1.01E-02 | None | None | 0 | 1.29E-02 | None | None | None | 0 | None |
| N/S | rs149001703 |
-0.188 | 0.044 | N | 0.399 | 0.176 | None | gnomAD-4.0.0 | 5.94974E-03 | None | None | None | None | N | None | 1.17336E-03 | 8.29945E-03 | None | 1.08108E-03 | 6.68747E-05 | None | 7.98222E-04 | 1.0396E-02 | 7.1326E-03 | 1.06502E-03 | 5.61726E-03 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/A | 0.1436 | likely_benign | 0.1472 | benign | -0.692 | Destabilizing | 0.227 | N | 0.399 | neutral | None | None | None | None | N |
| N/C | 0.2265 | likely_benign | 0.2279 | benign | 0.007 | Stabilizing | 0.96 | D | 0.455 | neutral | None | None | None | None | N |
| N/D | 0.0819 | likely_benign | 0.0686 | benign | -1.066 | Destabilizing | None | N | 0.058 | neutral | N | 0.327065367 | None | None | N |
| N/E | 0.2882 | likely_benign | 0.2846 | benign | -1.021 | Destabilizing | 0.057 | N | 0.315 | neutral | None | None | None | None | N |
| N/F | 0.5018 | ambiguous | 0.5168 | ambiguous | -0.777 | Destabilizing | 0.34 | N | 0.429 | neutral | None | None | None | None | N |
| N/G | 0.1772 | likely_benign | 0.186 | benign | -0.966 | Destabilizing | 0.108 | N | 0.308 | neutral | None | None | None | None | N |
| N/H | 0.1148 | likely_benign | 0.1201 | benign | -0.902 | Destabilizing | 0.437 | N | 0.464 | neutral | N | 0.449781147 | None | None | N |
| N/I | 0.2506 | likely_benign | 0.2418 | benign | -0.025 | Destabilizing | 0.437 | N | 0.441 | neutral | N | 0.479757337 | None | None | N |
| N/K | 0.3041 | likely_benign | 0.3005 | benign | -0.192 | Destabilizing | 0.181 | N | 0.294 | neutral | N | 0.441449665 | None | None | N |
| N/L | 0.2076 | likely_benign | 0.205 | benign | -0.025 | Destabilizing | 0.128 | N | 0.38 | neutral | None | None | None | None | N |
| N/M | 0.3595 | ambiguous | 0.3599 | ambiguous | 0.594 | Stabilizing | 0.96 | D | 0.324 | neutral | None | None | None | None | N |
| N/P | 0.7397 | likely_pathogenic | 0.6958 | pathogenic | -0.219 | Destabilizing | 0.676 | D | 0.381 | neutral | None | None | None | None | N |
| N/Q | 0.2686 | likely_benign | 0.2755 | benign | -1.008 | Destabilizing | 0.507 | D | 0.363 | neutral | None | None | None | None | N |
| N/R | 0.3067 | likely_benign | 0.3173 | benign | -0.063 | Destabilizing | 0.507 | D | 0.367 | neutral | None | None | None | None | N |
| N/S | 0.0641 | likely_benign | 0.0643 | benign | -0.721 | Destabilizing | 0.044 | N | 0.399 | neutral | N | 0.297126462 | None | None | N |
| N/T | 0.1317 | likely_benign | 0.1309 | benign | -0.514 | Destabilizing | 0.181 | N | 0.311 | neutral | N | 0.404104785 | None | None | N |
| N/V | 0.2113 | likely_benign | 0.202 | benign | -0.219 | Destabilizing | 0.507 | D | 0.399 | neutral | None | None | None | None | N |
| N/W | 0.7627 | likely_pathogenic | 0.7749 | pathogenic | -0.601 | Destabilizing | 0.887 | D | 0.461 | neutral | None | None | None | None | N |
| N/Y | 0.192 | likely_benign | 0.1923 | benign | -0.338 | Destabilizing | 0.001 | N | 0.262 | neutral | N | 0.461171576 | 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.