Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 16031 | 48316;48317;48318 | chr2:178616798;178616797;178616796 | chr2:179481525;179481524;179481523 |
| N2AB | 14390 | 43393;43394;43395 | chr2:178616798;178616797;178616796 | chr2:179481525;179481524;179481523 |
| N2A | 13463 | 40612;40613;40614 | chr2:178616798;178616797;178616796 | chr2:179481525;179481524;179481523 |
| N2B | 6966 | 21121;21122;21123 | chr2:178616798;178616797;178616796 | chr2:179481525;179481524;179481523 |
| Novex-1 | 7091 | 21496;21497;21498 | chr2:178616798;178616797;178616796 | chr2:179481525;179481524;179481523 |
| Novex-2 | 7158 | 21697;21698;21699 | chr2:178616798;178616797;178616796 | chr2:179481525;179481524;179481523 |
| 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/D | None | None | 1.0 | D | 0.813 | 0.736 | 0.655153318392 | 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 |
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 | 0.8559 | likely_pathogenic | 0.8728 | pathogenic | -0.252 | Destabilizing | 1.0 | D | 0.76 | deleterious | D | 0.73569517 | None | None | N |
| G/C | 0.9715 | likely_pathogenic | 0.9777 | pathogenic | -0.248 | Destabilizing | 1.0 | D | 0.715 | prob.delet. | D | 0.732164015 | None | None | N |
| G/D | 0.9582 | likely_pathogenic | 0.9683 | pathogenic | -1.07 | Destabilizing | 1.0 | D | 0.813 | deleterious | D | 0.732288663 | None | None | N |
| G/E | 0.9814 | likely_pathogenic | 0.9849 | pathogenic | -0.983 | Destabilizing | 1.0 | D | 0.787 | deleterious | None | None | None | None | N |
| G/F | 0.9963 | likely_pathogenic | 0.9968 | pathogenic | -0.429 | Destabilizing | 1.0 | D | 0.719 | prob.delet. | None | None | None | None | N |
| G/H | 0.9955 | likely_pathogenic | 0.9969 | pathogenic | -1.355 | Destabilizing | 1.0 | D | 0.688 | prob.neutral | None | None | None | None | N |
| G/I | 0.9953 | likely_pathogenic | 0.9959 | pathogenic | 0.556 | Stabilizing | 1.0 | D | 0.729 | prob.delet. | None | None | None | None | N |
| G/K | 0.994 | likely_pathogenic | 0.9952 | pathogenic | -0.717 | Destabilizing | 1.0 | D | 0.785 | deleterious | None | None | None | None | N |
| G/L | 0.9944 | likely_pathogenic | 0.9952 | pathogenic | 0.556 | Stabilizing | 1.0 | D | 0.731 | prob.delet. | None | None | None | None | N |
| G/M | 0.9957 | likely_pathogenic | 0.996 | pathogenic | 0.466 | Stabilizing | 1.0 | D | 0.708 | prob.delet. | None | None | None | None | N |
| G/N | 0.9807 | likely_pathogenic | 0.984 | pathogenic | -0.682 | Destabilizing | 1.0 | D | 0.836 | deleterious | None | None | None | None | N |
| G/P | 0.9992 | likely_pathogenic | 0.9994 | pathogenic | 0.332 | Stabilizing | 1.0 | D | 0.771 | deleterious | None | None | None | None | N |
| G/Q | 0.9892 | likely_pathogenic | 0.9913 | pathogenic | -0.612 | Destabilizing | 1.0 | D | 0.765 | deleterious | None | None | None | None | N |
| G/R | 0.9853 | likely_pathogenic | 0.9888 | pathogenic | -0.788 | Destabilizing | 1.0 | D | 0.78 | deleterious | D | 0.732096363 | None | None | N |
| G/S | 0.8814 | likely_pathogenic | 0.9023 | pathogenic | -0.982 | Destabilizing | 1.0 | D | 0.837 | deleterious | D | 0.73300463 | None | None | N |
| G/T | 0.9811 | likely_pathogenic | 0.9847 | pathogenic | -0.792 | Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | N |
| G/V | 0.9877 | likely_pathogenic | 0.9891 | pathogenic | 0.332 | Stabilizing | 1.0 | D | 0.737 | prob.delet. | D | 0.732164015 | None | None | N |
| G/W | 0.9928 | likely_pathogenic | 0.995 | pathogenic | -1.183 | Destabilizing | 1.0 | D | 0.731 | prob.delet. | None | None | None | None | N |
| G/Y | 0.9934 | likely_pathogenic | 0.9949 | pathogenic | -0.518 | Destabilizing | 1.0 | D | 0.711 | 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.