Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 21396 | 64411;64412;64413 | chr2:178586715;178586714;178586713 | chr2:179451442;179451441;179451440 |
| N2AB | 19755 | 59488;59489;59490 | chr2:178586715;178586714;178586713 | chr2:179451442;179451441;179451440 |
| N2A | 18828 | 56707;56708;56709 | chr2:178586715;178586714;178586713 | chr2:179451442;179451441;179451440 |
| N2B | 12331 | 37216;37217;37218 | chr2:178586715;178586714;178586713 | chr2:179451442;179451441;179451440 |
| Novex-1 | 12456 | 37591;37592;37593 | chr2:178586715;178586714;178586713 | chr2:179451442;179451441;179451440 |
| Novex-2 | 12523 | 37792;37793;37794 | chr2:178586715;178586714;178586713 | chr2:179451442;179451441;179451440 |
| 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 | -0.693 | 0.41 | N | 0.555 | 0.321 | 0.31411915649 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| A/G | None | -0.693 | 0.41 | N | 0.555 | 0.321 | 0.31411915649 | gnomAD-4.0.0 | 2.05348E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 3.47899E-05 | 0 |
| A/V | rs747305122  |
-0.234 | 0.581 | N | 0.734 | 0.36 | 0.405839309607 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 5.6E-05 | None | 0 | None | 0 | 0 | 0 |
| A/V | rs747305122 |
-0.234 | 0.581 | N | 0.734 | 0.36 | 0.405839309607 | gnomAD-4.0.0 | 6.84492E-07 | None | None | None | None | I | None | 0 | 0 | None | 0 | 2.52449E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.4386 | ambiguous | 0.3855 | ambiguous | -0.801 | Destabilizing | 0.98 | D | 0.764 | deleterious | None | None | None | None | I |
| A/D | 0.7981 | likely_pathogenic | 0.7379 | pathogenic | -0.722 | Destabilizing | 0.709 | D | 0.803 | deleterious | N | 0.465772924 | None | None | I |
| A/E | 0.7006 | likely_pathogenic | 0.6236 | pathogenic | -0.862 | Destabilizing | 0.764 | D | 0.751 | deleterious | None | None | None | None | I |
| A/F | 0.6766 | likely_pathogenic | 0.6312 | pathogenic | -1.098 | Destabilizing | 0.929 | D | 0.809 | deleterious | None | None | None | None | I |
| A/G | 0.2723 | likely_benign | 0.2322 | benign | -0.647 | Destabilizing | 0.41 | N | 0.555 | neutral | N | 0.479629625 | None | None | I |
| A/H | 0.7318 | likely_pathogenic | 0.6984 | pathogenic | -0.696 | Destabilizing | 0.98 | D | 0.803 | deleterious | None | None | None | None | I |
| A/I | 0.6697 | likely_pathogenic | 0.6068 | pathogenic | -0.464 | Destabilizing | 0.866 | D | 0.771 | deleterious | None | None | None | None | I |
| A/K | 0.8663 | likely_pathogenic | 0.8223 | pathogenic | -0.787 | Destabilizing | 0.764 | D | 0.751 | deleterious | None | None | None | None | I |
| A/L | 0.4219 | ambiguous | 0.3872 | ambiguous | -0.464 | Destabilizing | 0.648 | D | 0.718 | prob.delet. | None | None | None | None | I |
| A/M | 0.4342 | ambiguous | 0.3976 | ambiguous | -0.317 | Destabilizing | 0.993 | D | 0.755 | deleterious | None | None | None | None | I |
| A/N | 0.5676 | likely_pathogenic | 0.5235 | ambiguous | -0.432 | Destabilizing | 0.764 | D | 0.802 | deleterious | None | None | None | None | I |
| A/P | 0.9811 | likely_pathogenic | 0.9762 | pathogenic | -0.455 | Destabilizing | 0.83 | D | 0.767 | deleterious | N | 0.510997563 | None | None | I |
| A/Q | 0.5998 | likely_pathogenic | 0.5473 | ambiguous | -0.75 | Destabilizing | 0.866 | D | 0.773 | deleterious | None | None | None | None | I |
| A/R | 0.7812 | likely_pathogenic | 0.7349 | pathogenic | -0.303 | Destabilizing | 0.866 | D | 0.767 | deleterious | None | None | None | None | I |
| A/S | 0.0816 | likely_benign | 0.0759 | benign | -0.685 | Destabilizing | 0.004 | N | 0.467 | neutral | N | 0.403923932 | None | None | I |
| A/T | 0.1467 | likely_benign | 0.1256 | benign | -0.747 | Destabilizing | 0.41 | N | 0.631 | neutral | N | 0.509784748 | None | None | I |
| A/V | 0.3353 | likely_benign | 0.2841 | benign | -0.455 | Destabilizing | 0.581 | D | 0.734 | prob.delet. | N | 0.521559179 | None | None | I |
| A/W | 0.9262 | likely_pathogenic | 0.9033 | pathogenic | -1.237 | Destabilizing | 0.993 | D | 0.815 | deleterious | None | None | None | None | I |
| A/Y | 0.7699 | likely_pathogenic | 0.7141 | pathogenic | -0.883 | Destabilizing | 0.929 | D | 0.809 | deleterious | None | None | 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.