Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 9106 | 27541;27542;27543 | chr2:178712709;178712708;178712707 | chr2:179577436;179577435;179577434 |
| N2AB | 8789 | 26590;26591;26592 | chr2:178712709;178712708;178712707 | chr2:179577436;179577435;179577434 |
| N2A | 7862 | 23809;23810;23811 | chr2:178712709;178712708;178712707 | chr2:179577436;179577435;179577434 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| L/F | None | None | 0.999 | D | 0.829 | 0.483 | 0.643739242672 | gnomAD-4.0.0 | 6.84436E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99764E-07 | 0 | 0 |
| L/P | rs915079612  |
None | 1.0 | D | 0.879 | 0.738 | 0.888476296951 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| L/P | rs915079612 |
None | 1.0 | D | 0.879 | 0.738 | 0.888476296951 | gnomAD-4.0.0 | 6.56927E-06 | None | None | None | None | N | None | 2.41185E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| L/R | None | None | 0.998 | D | 0.87 | 0.732 | 0.866631598125 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 0 |
| L/V | None | None | 0.999 | N | 0.599 | 0.281 | 0.503248607038 | gnomAD-4.0.0 | 6.84436E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.15977E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| L/A | 0.8722 | likely_pathogenic | 0.8669 | pathogenic | -2.44 | Highly Destabilizing | 0.997 | D | 0.709 | prob.delet. | None | None | None | None | N |
| L/C | 0.8393 | likely_pathogenic | 0.8415 | pathogenic | -1.447 | Destabilizing | 1.0 | D | 0.828 | deleterious | None | None | None | None | N |
| L/D | 0.9988 | likely_pathogenic | 0.9991 | pathogenic | -2.968 | Highly Destabilizing | 0.999 | D | 0.878 | deleterious | None | None | None | None | N |
| L/E | 0.9927 | likely_pathogenic | 0.9943 | pathogenic | -2.632 | Highly Destabilizing | 0.998 | D | 0.881 | deleterious | None | None | None | None | N |
| L/F | 0.544 | ambiguous | 0.5568 | ambiguous | -1.439 | Destabilizing | 0.999 | D | 0.829 | deleterious | D | 0.527542698 | None | None | N |
| L/G | 0.9769 | likely_pathogenic | 0.977 | pathogenic | -3.07 | Highly Destabilizing | 0.999 | D | 0.88 | deleterious | None | None | None | None | N |
| L/H | 0.9712 | likely_pathogenic | 0.9761 | pathogenic | -2.845 | Highly Destabilizing | 0.668 | D | 0.663 | neutral | D | 0.558270706 | None | None | N |
| L/I | 0.1363 | likely_benign | 0.1419 | benign | -0.55 | Destabilizing | 0.999 | D | 0.611 | neutral | N | 0.509105594 | None | None | N |
| L/K | 0.9882 | likely_pathogenic | 0.991 | pathogenic | -1.68 | Destabilizing | 0.998 | D | 0.861 | deleterious | None | None | None | None | N |
| L/M | 0.2977 | likely_benign | 0.2965 | benign | -0.652 | Destabilizing | 1.0 | D | 0.792 | deleterious | None | None | None | None | N |
| L/N | 0.9913 | likely_pathogenic | 0.9927 | pathogenic | -2.398 | Highly Destabilizing | 0.998 | D | 0.885 | deleterious | None | None | None | None | N |
| L/P | 0.9925 | likely_pathogenic | 0.9939 | pathogenic | -1.17 | Destabilizing | 1.0 | D | 0.879 | deleterious | D | 0.558270706 | None | None | N |
| L/Q | 0.9603 | likely_pathogenic | 0.9661 | pathogenic | -2.0 | Highly Destabilizing | 0.999 | D | 0.852 | deleterious | None | None | None | None | N |
| L/R | 0.9635 | likely_pathogenic | 0.9696 | pathogenic | -1.893 | Destabilizing | 0.998 | D | 0.87 | deleterious | D | 0.558270706 | None | None | N |
| L/S | 0.9757 | likely_pathogenic | 0.9783 | pathogenic | -2.975 | Highly Destabilizing | 0.999 | D | 0.851 | deleterious | None | None | None | None | N |
| L/T | 0.9132 | likely_pathogenic | 0.916 | pathogenic | -2.463 | Highly Destabilizing | 0.999 | D | 0.815 | deleterious | None | None | None | None | N |
| L/V | 0.1559 | likely_benign | 0.1486 | benign | -1.17 | Destabilizing | 0.999 | D | 0.599 | neutral | N | 0.477044005 | None | None | N |
| L/W | 0.9452 | likely_pathogenic | 0.9563 | pathogenic | -1.838 | Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | N |
| L/Y | 0.948 | likely_pathogenic | 0.9556 | pathogenic | -1.569 | Destabilizing | 0.998 | D | 0.835 | deleterious | 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.