Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 21687 | 65284;65285;65286 | chr2:178584492;178584491;178584490 | chr2:179449219;179449218;179449217 |
| N2AB | 20046 | 60361;60362;60363 | chr2:178584492;178584491;178584490 | chr2:179449219;179449218;179449217 |
| N2A | 19119 | 57580;57581;57582 | chr2:178584492;178584491;178584490 | chr2:179449219;179449218;179449217 |
| N2B | 12622 | 38089;38090;38091 | chr2:178584492;178584491;178584490 | chr2:179449219;179449218;179449217 |
| Novex-1 | 12747 | 38464;38465;38466 | chr2:178584492;178584491;178584490 | chr2:179449219;179449218;179449217 |
| Novex-2 | 12814 | 38665;38666;38667 | chr2:178584492;178584491;178584490 | chr2:179449219;179449218;179449217 |
| 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/V | rs771108822  |
-0.352 | 1.0 | D | 0.851 | 0.566 | 0.614536914106 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.89E-06 | 0 |
| G/V | rs771108822 |
-0.352 | 1.0 | D | 0.851 | 0.566 | 0.614536914106 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| G/V | rs771108822 |
-0.352 | 1.0 | D | 0.851 | 0.566 | 0.614536914106 | gnomAD-4.0.0 | 2.56396E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 4.78879E-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 | 0.8607 | likely_pathogenic | 0.9049 | pathogenic | -0.199 | Destabilizing | 1.0 | D | 0.733 | prob.delet. | D | 0.526820412 | None | None | I |
| G/C | 0.9551 | likely_pathogenic | 0.9724 | pathogenic | -0.8 | Destabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | I |
| G/D | 0.9729 | likely_pathogenic | 0.9862 | pathogenic | -0.517 | Destabilizing | 1.0 | D | 0.836 | deleterious | None | None | None | None | I |
| G/E | 0.9845 | likely_pathogenic | 0.9925 | pathogenic | -0.688 | Destabilizing | 1.0 | D | 0.871 | deleterious | D | 0.537669738 | None | None | I |
| G/F | 0.9955 | likely_pathogenic | 0.9971 | pathogenic | -1.051 | Destabilizing | 1.0 | D | 0.824 | deleterious | None | None | None | None | I |
| G/H | 0.9901 | likely_pathogenic | 0.9949 | pathogenic | -0.457 | Destabilizing | 1.0 | D | 0.824 | deleterious | None | None | None | None | I |
| G/I | 0.9937 | likely_pathogenic | 0.9967 | pathogenic | -0.406 | Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | I |
| G/K | 0.9879 | likely_pathogenic | 0.9946 | pathogenic | -0.58 | Destabilizing | 1.0 | D | 0.872 | deleterious | None | None | None | None | I |
| G/L | 0.9904 | likely_pathogenic | 0.9947 | pathogenic | -0.406 | Destabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | I |
| G/M | 0.9953 | likely_pathogenic | 0.9973 | pathogenic | -0.356 | Destabilizing | 1.0 | D | 0.816 | deleterious | None | None | None | None | I |
| G/N | 0.974 | likely_pathogenic | 0.9864 | pathogenic | -0.267 | Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | I |
| G/P | 0.9987 | likely_pathogenic | 0.9993 | pathogenic | -0.307 | Destabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | I |
| G/Q | 0.9843 | likely_pathogenic | 0.9924 | pathogenic | -0.574 | Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | I |
| G/R | 0.9625 | likely_pathogenic | 0.9807 | pathogenic | -0.162 | Destabilizing | 1.0 | D | 0.862 | deleterious | N | 0.499815387 | None | None | I |
| G/S | 0.7929 | likely_pathogenic | 0.8752 | pathogenic | -0.394 | Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | I |
| G/T | 0.9708 | likely_pathogenic | 0.9865 | pathogenic | -0.498 | Destabilizing | 1.0 | D | 0.871 | deleterious | None | None | None | None | I |
| G/V | 0.9877 | likely_pathogenic | 0.993 | pathogenic | -0.307 | Destabilizing | 1.0 | D | 0.851 | deleterious | D | 0.52783437 | None | None | I |
| G/W | 0.9892 | likely_pathogenic | 0.994 | pathogenic | -1.186 | Destabilizing | 1.0 | D | 0.82 | deleterious | None | None | None | None | I |
| G/Y | 0.9923 | likely_pathogenic | 0.9956 | pathogenic | -0.822 | Destabilizing | 1.0 | D | 0.818 | deleterious | None | None | 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.