Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 5383 | 16372;16373;16374 | chr2:178733029;178733028;178733027 | chr2:179597756;179597755;179597754 |
| N2AB | 5066 | 15421;15422;15423 | chr2:178733029;178733028;178733027 | chr2:179597756;179597755;179597754 |
| N2A | 4139 | 12640;12641;12642 | chr2:178733029;178733028;178733027 | chr2:179597756;179597755;179597754 |
| 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/A | rs758960111  |
0.016 | 0.973 | N | 0.479 | 0.332 | 0.372087925617 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | I | None | 1.14784E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| S/A | rs758960111 |
0.016 | 0.973 | N | 0.479 | 0.332 | 0.372087925617 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| S/A | rs758960111 |
0.016 | 0.973 | N | 0.479 | 0.332 | 0.372087925617 | gnomAD-4.0.0 | 6.57488E-06 | None | None | None | None | I | None | 2.41406E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| S/F | rs774061411 |
-0.75 | 0.999 | N | 0.71 | 0.43 | 0.691664804554 | gnomAD-2.1.1 | 8.06E-06 | None | None | None | None | I | None | 0 | 2.91E-05 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| S/F | rs774061411 |
-0.75 | 0.999 | N | 0.71 | 0.43 | 0.691664804554 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 2.07125E-04 | 0 |
| S/F | rs774061411 |
-0.75 | 0.999 | N | 0.71 | 0.43 | 0.691664804554 | gnomAD-4.0.0 | 4.33884E-06 | None | None | None | None | I | None | 0 | 1.66845E-05 | None | 0 | 0 | None | 0 | 0 | 1.69536E-06 | 4.39338E-05 | 0 |
| S/T | rs758960111 |
0.045 | 0.543 | N | 0.336 | 0.278 | 0.302793454619 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | I | None | 6.47E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| S/T | rs758960111 |
0.045 | 0.543 | N | 0.336 | 0.278 | 0.302793454619 | gnomAD-3.1.2 | 2.63E-05 | None | None | None | None | I | None | 9.66E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| S/T | rs758960111 |
0.045 | 0.543 | N | 0.336 | 0.278 | 0.302793454619 | gnomAD-4.0.0 | 2.62995E-05 | None | None | None | None | I | None | 9.65624E-05 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.3267 | likely_benign | 0.3725 | ambiguous | -0.181 | Destabilizing | 0.973 | D | 0.479 | neutral | N | 0.491903568 | None | None | I |
| S/C | 0.5826 | likely_pathogenic | 0.6529 | pathogenic | -0.278 | Destabilizing | 1.0 | D | 0.639 | neutral | N | 0.499824247 | None | None | I |
| S/D | 0.9358 | likely_pathogenic | 0.9512 | pathogenic | 0.167 | Stabilizing | 0.996 | D | 0.588 | neutral | None | None | None | None | I |
| S/E | 0.9714 | likely_pathogenic | 0.9781 | pathogenic | 0.077 | Stabilizing | 0.996 | D | 0.593 | neutral | None | None | None | None | I |
| S/F | 0.832 | likely_pathogenic | 0.8622 | pathogenic | -0.784 | Destabilizing | 0.999 | D | 0.71 | prob.delet. | N | 0.486287105 | None | None | I |
| S/G | 0.3629 | ambiguous | 0.4182 | ambiguous | -0.283 | Destabilizing | 0.996 | D | 0.506 | neutral | None | None | None | None | I |
| S/H | 0.8854 | likely_pathogenic | 0.9041 | pathogenic | -0.643 | Destabilizing | 1.0 | D | 0.63 | neutral | None | None | None | None | I |
| S/I | 0.8593 | likely_pathogenic | 0.8833 | pathogenic | -0.044 | Destabilizing | 0.998 | D | 0.703 | prob.neutral | None | None | None | None | I |
| S/K | 0.9848 | likely_pathogenic | 0.9881 | pathogenic | -0.402 | Destabilizing | 0.996 | D | 0.593 | neutral | None | None | None | None | I |
| S/L | 0.5809 | likely_pathogenic | 0.6348 | pathogenic | -0.044 | Destabilizing | 0.992 | D | 0.61 | neutral | None | None | None | None | I |
| S/M | 0.7578 | likely_pathogenic | 0.7974 | pathogenic | -0.053 | Destabilizing | 1.0 | D | 0.629 | neutral | None | None | None | None | I |
| S/N | 0.692 | likely_pathogenic | 0.7423 | pathogenic | -0.104 | Destabilizing | 0.996 | D | 0.594 | neutral | None | None | None | None | I |
| S/P | 0.9339 | likely_pathogenic | 0.955 | pathogenic | -0.061 | Destabilizing | 0.999 | D | 0.638 | neutral | N | 0.491430456 | None | None | I |
| S/Q | 0.9448 | likely_pathogenic | 0.9579 | pathogenic | -0.314 | Destabilizing | 1.0 | D | 0.625 | neutral | None | None | None | None | I |
| S/R | 0.972 | likely_pathogenic | 0.9764 | pathogenic | -0.164 | Destabilizing | 0.999 | D | 0.633 | neutral | None | None | None | None | I |
| S/T | 0.2528 | likely_benign | 0.2765 | benign | -0.198 | Destabilizing | 0.543 | D | 0.336 | neutral | N | 0.492268927 | None | None | I |
| S/V | 0.813 | likely_pathogenic | 0.8497 | pathogenic | -0.061 | Destabilizing | 0.998 | D | 0.611 | neutral | None | None | None | None | I |
| S/W | 0.905 | likely_pathogenic | 0.9183 | pathogenic | -0.852 | Destabilizing | 1.0 | D | 0.755 | deleterious | None | None | None | None | I |
| S/Y | 0.7876 | likely_pathogenic | 0.813 | pathogenic | -0.541 | Destabilizing | 0.999 | D | 0.711 | prob.delet. | N | 0.494637229 | None | None | I |
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.