Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 10068 | 30427;30428;30429 | chr2:178704168;178704167;178704166 | chr2:179568895;179568894;179568893 |
| N2AB | 9751 | 29476;29477;29478 | chr2:178704168;178704167;178704166 | chr2:179568895;179568894;179568893 |
| N2A | 8824 | 26695;26696;26697 | chr2:178704168;178704167;178704166 | chr2:179568895;179568894;179568893 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/L | rs756434866  |
-0.09 | 0.326 | None | 0.507 | 0.296 | 0.455816718377 | gnomAD-2.1.1 | 4.01E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.85E-06 | 0 |
| S/L | rs756434866 |
-0.09 | 0.326 | None | 0.507 | 0.296 | 0.455816718377 | gnomAD-4.0.0 | 4.77351E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.57305E-06 | 0 | 0 |
| S/T | rs1410740071 |
-0.512 | 0.005 | None | 0.225 | 0.097 | 0.104622674875 | gnomAD-2.1.1 | 4.01E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.85E-06 | 0 |
| S/T | rs1410740071 |
-0.512 | 0.005 | None | 0.225 | 0.097 | 0.104622674875 | gnomAD-4.0.0 | 5.47342E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 7.19528E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.1023 | likely_benign | 0.1192 | benign | -0.475 | Destabilizing | 0.166 | N | 0.347 | neutral | None | None | None | None | N |
| S/C | 0.2816 | likely_benign | 0.3353 | benign | -0.351 | Destabilizing | 0.991 | D | 0.538 | neutral | None | None | None | None | N |
| S/D | 0.5785 | likely_pathogenic | 0.6863 | pathogenic | -0.564 | Destabilizing | 0.39 | N | 0.481 | neutral | None | None | None | None | N |
| S/E | 0.5871 | likely_pathogenic | 0.6449 | pathogenic | -0.624 | Destabilizing | 0.561 | D | 0.486 | neutral | None | None | None | None | N |
| S/F | 0.3013 | likely_benign | 0.4232 | ambiguous | -0.865 | Destabilizing | 0.004 | N | 0.452 | neutral | None | None | None | None | N |
| S/G | 0.1762 | likely_benign | 0.221 | benign | -0.654 | Destabilizing | 0.209 | N | 0.453 | neutral | None | None | None | None | N |
| S/H | 0.4238 | ambiguous | 0.4761 | ambiguous | -1.227 | Destabilizing | 0.901 | D | 0.555 | neutral | None | None | None | None | N |
| S/I | 0.2841 | likely_benign | 0.3922 | ambiguous | -0.119 | Destabilizing | 0.39 | N | 0.606 | neutral | None | None | None | None | N |
| S/K | 0.6133 | likely_pathogenic | 0.6757 | pathogenic | -0.745 | Destabilizing | 0.561 | D | 0.481 | neutral | None | None | None | None | N |
| S/L | 0.1869 | likely_benign | 0.27 | benign | -0.119 | Destabilizing | 0.326 | N | 0.507 | neutral | None | None | None | None | N |
| S/M | 0.3058 | likely_benign | 0.3801 | ambiguous | 0.295 | Stabilizing | 0.901 | D | 0.554 | neutral | None | None | None | None | N |
| S/N | 0.234 | likely_benign | 0.3247 | benign | -0.569 | Destabilizing | 0.004 | N | 0.233 | neutral | None | None | None | None | N |
| S/P | 0.8768 | likely_pathogenic | 0.9437 | pathogenic | -0.206 | Destabilizing | 0.003 | N | 0.315 | neutral | None | None | None | None | N |
| S/Q | 0.5585 | ambiguous | 0.5907 | pathogenic | -0.874 | Destabilizing | 0.901 | D | 0.547 | neutral | None | None | None | None | N |
| S/R | 0.4936 | ambiguous | 0.561 | ambiguous | -0.483 | Destabilizing | 0.818 | D | 0.589 | neutral | None | None | None | None | N |
| S/T | 0.0744 | likely_benign | 0.0853 | benign | -0.587 | Destabilizing | 0.005 | N | 0.225 | neutral | None | None | None | None | N |
| S/V | 0.2628 | likely_benign | 0.3469 | ambiguous | -0.206 | Destabilizing | 0.39 | N | 0.524 | neutral | None | None | None | None | N |
| S/W | 0.4969 | ambiguous | 0.6057 | pathogenic | -0.851 | Destabilizing | 0.991 | D | 0.61 | neutral | None | None | None | None | N |
| S/Y | 0.285 | likely_benign | 0.3793 | ambiguous | -0.589 | Destabilizing | 0.692 | D | 0.597 | neutral | 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.