Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 14512 | 43759;43760;43761 | chr2:178632360;178632359;178632358 | chr2:179497087;179497086;179497085 |
| N2AB | 12871 | 38836;38837;38838 | chr2:178632360;178632359;178632358 | chr2:179497087;179497086;179497085 |
| N2A | 11944 | 36055;36056;36057 | chr2:178632360;178632359;178632358 | chr2:179497087;179497086;179497085 |
| N2B | 5447 | 16564;16565;16566 | chr2:178632360;178632359;178632358 | chr2:179497087;179497086;179497085 |
| Novex-1 | 5572 | 16939;16940;16941 | chr2:178632360;178632359;178632358 | chr2:179497087;179497086;179497085 |
| Novex-2 | 5639 | 17140;17141;17142 | chr2:178632360;178632359;178632358 | chr2:179497087;179497086;179497085 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/A | None | None | 0.999 | D | 0.659 | 0.675 | 0.742546504806 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 0 |
| E/D | rs776208084  |
-0.501 | 0.999 | D | 0.478 | 0.495 | 0.356281029322 | gnomAD-2.1.1 | 4.28E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.51E-05 | None | 0 | 0 | 0 |
| E/D | rs776208084 |
-0.501 | 0.999 | D | 0.478 | 0.495 | 0.356281029322 | gnomAD-4.0.0 | 1.61477E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.47354E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/A | 0.2924 | likely_benign | 0.2329 | benign | -0.696 | Destabilizing | 0.999 | D | 0.659 | neutral | D | 0.625675643 | None | None | N |
| E/C | 0.9589 | likely_pathogenic | 0.9521 | pathogenic | -0.213 | Destabilizing | 1.0 | D | 0.729 | prob.delet. | None | None | None | None | N |
| E/D | 0.2694 | likely_benign | 0.1842 | benign | -0.632 | Destabilizing | 0.999 | D | 0.478 | neutral | D | 0.604878544 | None | None | N |
| E/F | 0.9459 | likely_pathogenic | 0.9321 | pathogenic | -0.379 | Destabilizing | 1.0 | D | 0.723 | prob.delet. | None | None | None | None | N |
| E/G | 0.2011 | likely_benign | 0.1623 | benign | -0.953 | Destabilizing | 1.0 | D | 0.683 | prob.neutral | D | 0.547977283 | None | None | N |
| E/H | 0.843 | likely_pathogenic | 0.7981 | pathogenic | -0.306 | Destabilizing | 1.0 | D | 0.711 | prob.delet. | None | None | None | None | N |
| E/I | 0.7773 | likely_pathogenic | 0.7581 | pathogenic | -0.028 | Destabilizing | 1.0 | D | 0.75 | deleterious | None | None | None | None | N |
| E/K | 0.3343 | likely_benign | 0.3206 | benign | 0.065 | Stabilizing | 0.999 | D | 0.62 | neutral | N | 0.511758052 | None | None | N |
| E/L | 0.8116 | likely_pathogenic | 0.7602 | pathogenic | -0.028 | Destabilizing | 1.0 | D | 0.73 | prob.delet. | None | None | None | None | N |
| E/M | 0.7511 | likely_pathogenic | 0.7271 | pathogenic | 0.207 | Stabilizing | 1.0 | D | 0.693 | prob.neutral | None | None | None | None | N |
| E/N | 0.4925 | ambiguous | 0.4038 | ambiguous | -0.404 | Destabilizing | 1.0 | D | 0.754 | deleterious | None | None | None | None | N |
| E/P | 0.9751 | likely_pathogenic | 0.9702 | pathogenic | -0.23 | Destabilizing | 1.0 | D | 0.704 | prob.neutral | None | None | None | None | N |
| E/Q | 0.2864 | likely_benign | 0.2565 | benign | -0.348 | Destabilizing | 1.0 | D | 0.658 | neutral | D | 0.544681264 | None | None | N |
| E/R | 0.5543 | ambiguous | 0.5335 | ambiguous | 0.311 | Stabilizing | 1.0 | D | 0.751 | deleterious | None | None | None | None | N |
| E/S | 0.4041 | ambiguous | 0.3316 | benign | -0.581 | Destabilizing | 0.999 | D | 0.697 | prob.neutral | None | None | None | None | N |
| E/T | 0.4476 | ambiguous | 0.4019 | ambiguous | -0.367 | Destabilizing | 1.0 | D | 0.731 | prob.delet. | None | None | None | None | N |
| E/V | 0.5208 | ambiguous | 0.4917 | ambiguous | -0.23 | Destabilizing | 1.0 | D | 0.723 | prob.delet. | D | 0.663288104 | None | None | N |
| E/W | 0.9828 | likely_pathogenic | 0.9788 | pathogenic | -0.128 | Destabilizing | 1.0 | D | 0.731 | prob.delet. | None | None | None | None | N |
| E/Y | 0.8832 | likely_pathogenic | 0.8568 | pathogenic | -0.112 | Destabilizing | 1.0 | D | 0.725 | prob.delet. | 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.