Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 21679 | 65260;65261;65262 | chr2:178584516;178584515;178584514 | chr2:179449243;179449242;179449241 |
| N2AB | 20038 | 60337;60338;60339 | chr2:178584516;178584515;178584514 | chr2:179449243;179449242;179449241 |
| N2A | 19111 | 57556;57557;57558 | chr2:178584516;178584515;178584514 | chr2:179449243;179449242;179449241 |
| N2B | 12614 | 38065;38066;38067 | chr2:178584516;178584515;178584514 | chr2:179449243;179449242;179449241 |
| Novex-1 | 12739 | 38440;38441;38442 | chr2:178584516;178584515;178584514 | chr2:179449243;179449242;179449241 |
| Novex-2 | 12806 | 38641;38642;38643 | chr2:178584516;178584515;178584514 | chr2:179449243;179449242;179449241 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/G | None | None | 0.052 | N | 0.434 | 0.09 | 0.361758802978 | gnomAD-4.0.0 | 1.59257E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.78645E-05 | None | 0 | 0 | 0 | 0 | 0 |
| A/T | None | None | None | N | 0.447 | 0.03 | 0.242244723065 | gnomAD-4.0.0 | 1.59257E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86005E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.4271 | ambiguous | 0.3958 | ambiguous | -1.222 | Destabilizing | 0.935 | D | 0.525 | neutral | None | None | None | None | N |
| A/D | 0.5956 | likely_pathogenic | 0.5564 | ambiguous | -2.474 | Highly Destabilizing | 0.117 | N | 0.526 | neutral | N | 0.490774912 | None | None | N |
| A/E | 0.4123 | ambiguous | 0.3508 | ambiguous | -2.382 | Highly Destabilizing | 0.081 | N | 0.45 | neutral | None | None | None | None | N |
| A/F | 0.4778 | ambiguous | 0.4436 | ambiguous | -0.959 | Destabilizing | 0.555 | D | 0.613 | neutral | None | None | None | None | N |
| A/G | 0.185 | likely_benign | 0.1688 | benign | -1.535 | Destabilizing | 0.052 | N | 0.434 | neutral | N | 0.4888894 | None | None | N |
| A/H | 0.5251 | ambiguous | 0.4835 | ambiguous | -1.884 | Destabilizing | 0.824 | D | 0.613 | neutral | None | None | None | None | N |
| A/I | 0.3852 | ambiguous | 0.3267 | benign | -0.231 | Destabilizing | 0.38 | N | 0.526 | neutral | None | None | None | None | N |
| A/K | 0.5442 | ambiguous | 0.4666 | ambiguous | -1.428 | Destabilizing | 0.001 | N | 0.376 | neutral | None | None | None | None | N |
| A/L | 0.2816 | likely_benign | 0.245 | benign | -0.231 | Destabilizing | 0.081 | N | 0.452 | neutral | None | None | None | None | N |
| A/M | 0.3026 | likely_benign | 0.2627 | benign | -0.314 | Destabilizing | 0.935 | D | 0.569 | neutral | None | None | None | None | N |
| A/N | 0.3934 | ambiguous | 0.3729 | ambiguous | -1.49 | Destabilizing | 0.149 | N | 0.547 | neutral | None | None | None | None | N |
| A/P | 0.9673 | likely_pathogenic | 0.9632 | pathogenic | -0.502 | Destabilizing | 0.484 | N | 0.533 | neutral | N | 0.491385597 | None | None | N |
| A/Q | 0.3538 | ambiguous | 0.3163 | benign | -1.49 | Destabilizing | 0.235 | N | 0.535 | neutral | None | None | None | None | N |
| A/R | 0.4643 | ambiguous | 0.4064 | ambiguous | -1.249 | Destabilizing | 0.235 | N | 0.522 | neutral | None | None | None | None | N |
| A/S | 0.0953 | likely_benign | 0.0944 | benign | -1.807 | Destabilizing | 0.002 | N | 0.236 | neutral | N | 0.392568001 | None | None | N |
| A/T | 0.1045 | likely_benign | 0.0926 | benign | -1.622 | Destabilizing | None | N | 0.447 | neutral | N | 0.422701694 | None | None | N |
| A/V | 0.2031 | likely_benign | 0.1748 | benign | -0.502 | Destabilizing | 0.062 | N | 0.451 | neutral | N | 0.485099734 | None | None | N |
| A/W | 0.8484 | likely_pathogenic | 0.8221 | pathogenic | -1.611 | Destabilizing | 0.935 | D | 0.713 | prob.delet. | None | None | None | None | N |
| A/Y | 0.5853 | likely_pathogenic | 0.5628 | ambiguous | -1.131 | Destabilizing | 0.791 | D | 0.625 | 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.