Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 24636 | 74131;74132;74133 | chr2:178572226;178572225;178572224 | chr2:179436953;179436952;179436951 |
| N2AB | 22995 | 69208;69209;69210 | chr2:178572226;178572225;178572224 | chr2:179436953;179436952;179436951 |
| N2A | 22068 | 66427;66428;66429 | chr2:178572226;178572225;178572224 | chr2:179436953;179436952;179436951 |
| N2B | 15571 | 46936;46937;46938 | chr2:178572226;178572225;178572224 | chr2:179436953;179436952;179436951 |
| Novex-1 | 15696 | 47311;47312;47313 | chr2:178572226;178572225;178572224 | chr2:179436953;179436952;179436951 |
| Novex-2 | 15763 | 47512;47513;47514 | chr2:178572226;178572225;178572224 | chr2:179436953;179436952;179436951 |
| 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/C | None | None | 1.0 | N | 0.686 | 0.405 | 0.455909487837 | gnomAD-4.0.0 | 6.1593E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.09623E-06 | 0 | 0 |
| S/F | rs1708469401  |
None | 1.0 | N | 0.743 | 0.453 | 0.641966406657 | gnomAD-4.0.0 | 3.42183E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 4.49791E-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 | 0.0714 | likely_benign | 0.0666 | benign | -0.674 | Destabilizing | 0.562 | D | 0.452 | neutral | N | 0.493935435 | None | None | N |
| S/C | 0.0793 | likely_benign | 0.0794 | benign | -0.473 | Destabilizing | 1.0 | D | 0.686 | prob.neutral | N | 0.499484035 | None | None | N |
| S/D | 0.6125 | likely_pathogenic | 0.6288 | pathogenic | -0.947 | Destabilizing | 0.991 | D | 0.571 | neutral | None | None | None | None | N |
| S/E | 0.5929 | likely_pathogenic | 0.609 | pathogenic | -0.833 | Destabilizing | 0.994 | D | 0.583 | neutral | None | None | None | None | N |
| S/F | 0.1637 | likely_benign | 0.157 | benign | -0.599 | Destabilizing | 1.0 | D | 0.743 | deleterious | N | 0.508447257 | None | None | N |
| S/G | 0.1008 | likely_benign | 0.0958 | benign | -1.027 | Destabilizing | 0.995 | D | 0.487 | neutral | None | None | None | None | N |
| S/H | 0.2758 | likely_benign | 0.3049 | benign | -1.531 | Destabilizing | 1.0 | D | 0.685 | prob.neutral | None | None | None | None | N |
| S/I | 0.1327 | likely_benign | 0.136 | benign | 0.19 | Stabilizing | 0.999 | D | 0.676 | prob.neutral | None | None | None | None | N |
| S/K | 0.53 | ambiguous | 0.5752 | pathogenic | -0.481 | Destabilizing | 0.998 | D | 0.573 | neutral | None | None | None | None | N |
| S/L | 0.0701 | likely_benign | 0.0678 | benign | 0.19 | Stabilizing | 0.995 | D | 0.557 | neutral | None | None | None | None | N |
| S/M | 0.13 | likely_benign | 0.1292 | benign | 0.235 | Stabilizing | 1.0 | D | 0.69 | prob.neutral | None | None | None | None | N |
| S/N | 0.1621 | likely_benign | 0.1711 | benign | -0.858 | Destabilizing | 0.929 | D | 0.581 | neutral | None | None | None | None | N |
| S/P | 0.949 | likely_pathogenic | 0.9556 | pathogenic | -0.062 | Destabilizing | 0.998 | D | 0.649 | neutral | D | 0.531324452 | None | None | N |
| S/Q | 0.3701 | ambiguous | 0.3962 | ambiguous | -0.767 | Destabilizing | 1.0 | D | 0.626 | neutral | None | None | None | None | N |
| S/R | 0.4299 | ambiguous | 0.4726 | ambiguous | -0.693 | Destabilizing | 0.999 | D | 0.662 | neutral | None | None | None | None | N |
| S/T | 0.0743 | likely_benign | 0.074 | benign | -0.632 | Destabilizing | 0.053 | N | 0.333 | neutral | N | 0.473250731 | None | None | N |
| S/V | 0.1464 | likely_benign | 0.1429 | benign | -0.062 | Destabilizing | 0.987 | D | 0.571 | neutral | None | None | None | None | N |
| S/W | 0.3726 | ambiguous | 0.3746 | ambiguous | -0.779 | Destabilizing | 1.0 | D | 0.736 | prob.delet. | None | None | None | None | N |
| S/Y | 0.1767 | likely_benign | 0.179 | benign | -0.388 | Destabilizing | 1.0 | D | 0.745 | deleterious | N | 0.513220197 | 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.