Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 19455 | 58588;58589;58590 | chr2:178594030;178594029;178594028 | chr2:179458757;179458756;179458755 |
| N2AB | 17814 | 53665;53666;53667 | chr2:178594030;178594029;178594028 | chr2:179458757;179458756;179458755 |
| N2A | 16887 | 50884;50885;50886 | chr2:178594030;178594029;178594028 | chr2:179458757;179458756;179458755 |
| N2B | 10390 | 31393;31394;31395 | chr2:178594030;178594029;178594028 | chr2:179458757;179458756;179458755 |
| Novex-1 | 10515 | 31768;31769;31770 | chr2:178594030;178594029;178594028 | chr2:179458757;179458756;179458755 |
| Novex-2 | 10582 | 31969;31970;31971 | chr2:178594030;178594029;178594028 | chr2:179458757;179458756;179458755 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | rs770572636  |
-0.456 | 1.0 | D | 0.735 | 0.564 | 0.551550886788 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| G/A | rs770572636 |
-0.456 | 1.0 | D | 0.735 | 0.564 | 0.551550886788 | gnomAD-4.0.0 | 1.59173E-06 | None | None | None | None | N | None | 0 | 2.28749E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/S | rs191927501 |
-0.785 | 1.0 | D | 0.823 | 0.541 | None | gnomAD-2.1.1 | 1.6793E-04 | None | None | None | None | N | None | 1.23977E-04 | 0 | None | 0 | 0 | None | 0 | None | 4E-05 | 3.12842E-04 | 4.2123E-04 |
| G/S | rs191927501 |
-0.785 | 1.0 | D | 0.823 | 0.541 | None | gnomAD-3.1.2 | 2.10438E-04 | None | None | None | None | N | None | 1.20651E-04 | 1.96747E-04 | 0 | 0 | 0 | None | 0 | 0 | 3.52993E-04 | 0 | 0 |
| G/S | rs191927501 |
-0.785 | 1.0 | D | 0.823 | 0.541 | None | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 0 | 1E-03 | None | None | None | 0 | None |
| G/S | rs191927501 |
-0.785 | 1.0 | D | 0.823 | 0.541 | None | gnomAD-4.0.0 | 2.16916E-04 | None | None | None | None | N | None | 1.46612E-04 | 6.67045E-05 | None | 0 | 2.23304E-05 | None | 1.56216E-05 | 4.95213E-04 | 2.65335E-04 | 0 | 2.72157E-04 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.5997 | likely_pathogenic | 0.5506 | ambiguous | -0.908 | Destabilizing | 1.0 | D | 0.735 | prob.delet. | D | 0.582131 | None | None | N |
| G/C | 0.8761 | likely_pathogenic | 0.8367 | pathogenic | -1.277 | Destabilizing | 1.0 | D | 0.731 | prob.delet. | D | 0.630228367 | None | None | N |
| G/D | 0.9239 | likely_pathogenic | 0.893 | pathogenic | -1.708 | Destabilizing | 1.0 | D | 0.812 | deleterious | D | 0.613573233 | None | None | N |
| G/E | 0.9544 | likely_pathogenic | 0.9361 | pathogenic | -1.729 | Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | N |
| G/F | 0.9903 | likely_pathogenic | 0.9862 | pathogenic | -1.239 | Destabilizing | 1.0 | D | 0.742 | deleterious | None | None | None | None | N |
| G/H | 0.9848 | likely_pathogenic | 0.978 | pathogenic | -1.489 | Destabilizing | 1.0 | D | 0.713 | prob.delet. | None | None | None | None | N |
| G/I | 0.9901 | likely_pathogenic | 0.9861 | pathogenic | -0.417 | Destabilizing | 1.0 | D | 0.751 | deleterious | None | None | None | None | N |
| G/K | 0.9786 | likely_pathogenic | 0.9688 | pathogenic | -1.331 | Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | N |
| G/L | 0.9816 | likely_pathogenic | 0.9762 | pathogenic | -0.417 | Destabilizing | 1.0 | D | 0.749 | deleterious | None | None | None | None | N |
| G/M | 0.9864 | likely_pathogenic | 0.9811 | pathogenic | -0.37 | Destabilizing | 1.0 | D | 0.726 | prob.delet. | None | None | None | None | N |
| G/N | 0.9569 | likely_pathogenic | 0.9383 | pathogenic | -1.179 | Destabilizing | 1.0 | D | 0.826 | deleterious | None | None | None | None | N |
| G/P | 0.9988 | likely_pathogenic | 0.9982 | pathogenic | -0.54 | Destabilizing | 1.0 | D | 0.785 | deleterious | None | None | None | None | N |
| G/Q | 0.9497 | likely_pathogenic | 0.9283 | pathogenic | -1.347 | Destabilizing | 1.0 | D | 0.779 | deleterious | None | None | None | None | N |
| G/R | 0.9394 | likely_pathogenic | 0.9118 | pathogenic | -1.033 | Destabilizing | 1.0 | D | 0.793 | deleterious | D | 0.630026563 | None | None | N |
| G/S | 0.5536 | ambiguous | 0.4771 | ambiguous | -1.476 | Destabilizing | 1.0 | D | 0.823 | deleterious | D | 0.613371429 | None | None | N |
| G/T | 0.934 | likely_pathogenic | 0.9079 | pathogenic | -1.413 | Destabilizing | 1.0 | D | 0.792 | deleterious | None | None | None | None | N |
| G/V | 0.9712 | likely_pathogenic | 0.9603 | pathogenic | -0.54 | Destabilizing | 1.0 | D | 0.754 | deleterious | D | 0.630228367 | None | None | N |
| G/W | 0.9824 | likely_pathogenic | 0.9727 | pathogenic | -1.629 | Destabilizing | 1.0 | D | 0.748 | deleterious | None | None | None | None | N |
| G/Y | 0.988 | likely_pathogenic | 0.9823 | pathogenic | -1.2 | Destabilizing | 1.0 | D | 0.735 | prob.delet. | 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.