Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 27108 | 81547;81548;81549 | chr2:178564810;178564809;178564808 | chr2:179429537;179429536;179429535 |
| N2AB | 25467 | 76624;76625;76626 | chr2:178564810;178564809;178564808 | chr2:179429537;179429536;179429535 |
| N2A | 24540 | 73843;73844;73845 | chr2:178564810;178564809;178564808 | chr2:179429537;179429536;179429535 |
| N2B | 18043 | 54352;54353;54354 | chr2:178564810;178564809;178564808 | chr2:179429537;179429536;179429535 |
| Novex-1 | 18168 | 54727;54728;54729 | chr2:178564810;178564809;178564808 | chr2:179429537;179429536;179429535 |
| Novex-2 | 18235 | 54928;54929;54930 | chr2:178564810;178564809;178564808 | chr2:179429537;179429536;179429535 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| H/D | None | None | 0.99 | N | 0.661 | 0.427 | 0.366848117066 | gnomAD-4.0.0 | 6.84658E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99798E-07 | 0 | 0 |
| H/R | rs761773428  |
-1.557 | 0.97 | N | 0.635 | 0.477 | 0.320256813643 | gnomAD-2.1.1 | 1.22E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 2.71E-05 | 0 |
| H/R | rs761773428 |
-1.557 | 0.97 | N | 0.635 | 0.477 | 0.320256813643 | gnomAD-4.0.0 | 1.11538E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.71665E-05 | 0 | 3.0292E-05 |
| H/Y | None | None | 0.014 | N | 0.476 | 0.312 | 0.229264304666 | gnomAD-4.0.0 | 6.84658E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.16042E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| H/A | 0.9109 | likely_pathogenic | 0.9073 | pathogenic | -1.529 | Destabilizing | 0.86 | D | 0.635 | neutral | None | None | None | None | N |
| H/C | 0.3835 | ambiguous | 0.3795 | ambiguous | -1.051 | Destabilizing | 0.998 | D | 0.769 | deleterious | None | None | None | None | N |
| H/D | 0.9315 | likely_pathogenic | 0.926 | pathogenic | -1.567 | Destabilizing | 0.99 | D | 0.661 | neutral | N | 0.483462151 | None | None | N |
| H/E | 0.9049 | likely_pathogenic | 0.8972 | pathogenic | -1.425 | Destabilizing | 0.926 | D | 0.605 | neutral | None | None | None | None | N |
| H/F | 0.4075 | ambiguous | 0.3922 | ambiguous | 0.06 | Stabilizing | 0.915 | D | 0.662 | neutral | None | None | None | None | N |
| H/G | 0.9522 | likely_pathogenic | 0.9518 | pathogenic | -1.875 | Destabilizing | 0.926 | D | 0.661 | neutral | None | None | None | None | N |
| H/I | 0.4981 | ambiguous | 0.4817 | ambiguous | -0.534 | Destabilizing | 0.956 | D | 0.746 | deleterious | None | None | None | None | N |
| H/K | 0.8302 | likely_pathogenic | 0.8307 | pathogenic | -1.401 | Destabilizing | 0.978 | D | 0.663 | neutral | None | None | None | None | N |
| H/L | 0.3809 | ambiguous | 0.3634 | ambiguous | -0.534 | Destabilizing | 0.698 | D | 0.707 | prob.neutral | N | 0.498276888 | None | None | N |
| H/M | 0.8218 | likely_pathogenic | 0.8125 | pathogenic | -0.805 | Destabilizing | 0.998 | D | 0.73 | prob.delet. | None | None | None | None | N |
| H/N | 0.4708 | ambiguous | 0.4775 | ambiguous | -1.658 | Destabilizing | 0.904 | D | 0.623 | neutral | N | 0.499007607 | None | None | N |
| H/P | 0.9871 | likely_pathogenic | 0.9859 | pathogenic | -0.853 | Destabilizing | 0.99 | D | 0.717 | prob.delet. | N | 0.503614049 | None | None | N |
| H/Q | 0.696 | likely_pathogenic | 0.6914 | pathogenic | -1.293 | Destabilizing | 0.97 | D | 0.648 | neutral | N | 0.518670803 | None | None | N |
| H/R | 0.4601 | ambiguous | 0.4466 | ambiguous | -1.658 | Destabilizing | 0.97 | D | 0.635 | neutral | N | 0.497794098 | None | None | N |
| H/S | 0.784 | likely_pathogenic | 0.7787 | pathogenic | -1.754 | Destabilizing | 0.926 | D | 0.647 | neutral | None | None | None | None | N |
| H/T | 0.7972 | likely_pathogenic | 0.7934 | pathogenic | -1.518 | Destabilizing | 0.978 | D | 0.662 | neutral | None | None | None | None | N |
| H/V | 0.5513 | ambiguous | 0.5334 | ambiguous | -0.853 | Destabilizing | 0.956 | D | 0.715 | prob.delet. | None | None | None | None | N |
| H/W | 0.4494 | ambiguous | 0.4126 | ambiguous | 0.357 | Stabilizing | 0.994 | D | 0.735 | prob.delet. | None | None | None | None | N |
| H/Y | 0.1449 | likely_benign | 0.136 | benign | 0.322 | Stabilizing | 0.014 | N | 0.476 | neutral | N | 0.490254837 | 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.