Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 31140 | 93643;93644;93645 | chr2:178548208;178548207;178548206 | chr2:179412935;179412934;179412933 |
| N2AB | 29499 | 88720;88721;88722 | chr2:178548208;178548207;178548206 | chr2:179412935;179412934;179412933 |
| N2A | 28572 | 85939;85940;85941 | chr2:178548208;178548207;178548206 | chr2:179412935;179412934;179412933 |
| N2B | 22075 | 66448;66449;66450 | chr2:178548208;178548207;178548206 | chr2:179412935;179412934;179412933 |
| Novex-1 | 22200 | 66823;66824;66825 | chr2:178548208;178548207;178548206 | chr2:179412935;179412934;179412933 |
| Novex-2 | 22267 | 67024;67025;67026 | chr2:178548208;178548207;178548206 | chr2:179412935;179412934;179412933 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/E | rs1697978280  |
None | 1.0 | N | 0.439 | 0.33 | 0.261217442401 | gnomAD-4.0.0 | 1.59111E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 2.77269E-05 | None | 0 | 0 | 0 | 0 | 0 |
| D/N | rs768116289 |
-0.683 | 1.0 | N | 0.729 | 0.457 | 0.281780670237 | gnomAD-2.1.1 | 8.04E-06 | None | None | None | None | I | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 8.89E-06 | 0 |
| D/N | rs768116289 |
-0.683 | 1.0 | N | 0.729 | 0.457 | 0.281780670237 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 4.78011E-04 |
| D/N | rs768116289 |
-0.683 | 1.0 | N | 0.729 | 0.457 | 0.281780670237 | gnomAD-4.0.0 | 8.67559E-06 | None | None | None | None | I | None | 0 | 1.66728E-05 | None | 0 | 0 | None | 0 | 0 | 9.32342E-06 | 0 | 3.20195E-05 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.9511 | likely_pathogenic | 0.9355 | pathogenic | -0.245 | Destabilizing | 1.0 | D | 0.749 | deleterious | N | 0.488120368 | None | None | I |
| D/C | 0.9904 | likely_pathogenic | 0.9858 | pathogenic | -0.028 | Destabilizing | 1.0 | D | 0.709 | prob.delet. | None | None | None | None | I |
| D/E | 0.9404 | likely_pathogenic | 0.9335 | pathogenic | -0.771 | Destabilizing | 1.0 | D | 0.439 | neutral | N | 0.48710641 | None | None | I |
| D/F | 0.9899 | likely_pathogenic | 0.9895 | pathogenic | -0.341 | Destabilizing | 1.0 | D | 0.717 | prob.delet. | None | None | None | None | I |
| D/G | 0.9355 | likely_pathogenic | 0.9172 | pathogenic | -0.556 | Destabilizing | 1.0 | D | 0.722 | prob.delet. | N | 0.50856848 | None | None | I |
| D/H | 0.961 | likely_pathogenic | 0.9449 | pathogenic | -0.838 | Destabilizing | 1.0 | D | 0.703 | prob.neutral | N | 0.50533925 | None | None | I |
| D/I | 0.9882 | likely_pathogenic | 0.9852 | pathogenic | 0.555 | Stabilizing | 1.0 | D | 0.738 | prob.delet. | None | None | None | None | I |
| D/K | 0.9872 | likely_pathogenic | 0.9843 | pathogenic | -0.356 | Destabilizing | 1.0 | D | 0.778 | deleterious | None | None | None | None | I |
| D/L | 0.975 | likely_pathogenic | 0.974 | pathogenic | 0.555 | Stabilizing | 1.0 | D | 0.75 | deleterious | None | None | None | None | I |
| D/M | 0.9937 | likely_pathogenic | 0.9932 | pathogenic | 1.015 | Stabilizing | 1.0 | D | 0.701 | prob.neutral | None | None | None | None | I |
| D/N | 0.4749 | ambiguous | 0.4633 | ambiguous | -0.615 | Destabilizing | 1.0 | D | 0.729 | prob.delet. | N | 0.519001664 | None | None | I |
| D/P | 0.9885 | likely_pathogenic | 0.9897 | pathogenic | 0.314 | Stabilizing | 1.0 | D | 0.783 | deleterious | None | None | None | None | I |
| D/Q | 0.9817 | likely_pathogenic | 0.9744 | pathogenic | -0.486 | Destabilizing | 1.0 | D | 0.778 | deleterious | None | None | None | None | I |
| D/R | 0.983 | likely_pathogenic | 0.9773 | pathogenic | -0.39 | Destabilizing | 1.0 | D | 0.756 | deleterious | None | None | None | None | I |
| D/S | 0.7571 | likely_pathogenic | 0.7094 | pathogenic | -0.822 | Destabilizing | 1.0 | D | 0.742 | deleterious | None | None | None | None | I |
| D/T | 0.8803 | likely_pathogenic | 0.8836 | pathogenic | -0.577 | Destabilizing | 1.0 | D | 0.785 | deleterious | None | None | None | None | I |
| D/V | 0.9671 | likely_pathogenic | 0.9597 | pathogenic | 0.314 | Stabilizing | 1.0 | D | 0.752 | deleterious | N | 0.500717667 | None | None | I |
| D/W | 0.9983 | likely_pathogenic | 0.9977 | pathogenic | -0.382 | Destabilizing | 1.0 | D | 0.699 | prob.neutral | None | None | None | None | I |
| D/Y | 0.9478 | likely_pathogenic | 0.9313 | pathogenic | -0.169 | Destabilizing | 1.0 | D | 0.7 | prob.neutral | D | 0.538029041 | 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.