Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 1624 | 5095;5096;5097 | chr2:178776994;178776993;178776992 | chr2:179641721;179641720;179641719 |
| N2AB | 1624 | 5095;5096;5097 | chr2:178776994;178776993;178776992 | chr2:179641721;179641720;179641719 |
| N2A | 1624 | 5095;5096;5097 | chr2:178776994;178776993;178776992 | chr2:179641721;179641720;179641719 |
| N2B | 1578 | 4957;4958;4959 | chr2:178776994;178776993;178776992 | chr2:179641721;179641720;179641719 |
| Novex-1 | 1578 | 4957;4958;4959 | chr2:178776994;178776993;178776992 | chr2:179641721;179641720;179641719 |
| Novex-2 | 1578 | 4957;4958;4959 | chr2:178776994;178776993;178776992 | chr2:179641721;179641720;179641719 |
| Novex-3 | 1624 | 5095;5096;5097 | chr2:178776994;178776993;178776992 | chr2:179641721;179641720;179641719 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/N | None | None | 1.0 | D | 0.785 | 0.751 | 0.608268572844 | gnomAD-4.0.0 | 1.59081E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.8566E-06 | 0 | 0 |
| D/V | rs1290278898  |
1.05 | 1.0 | D | 0.872 | 0.936 | 0.91714051448 | gnomAD-2.1.1 | 4E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.85E-06 | 0 |
| D/V | rs1290278898 |
1.05 | 1.0 | D | 0.872 | 0.936 | 0.91714051448 | gnomAD-4.0.0 | 1.36823E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79861E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.9642 | likely_pathogenic | 0.9586 | pathogenic | 0.256 | Stabilizing | 1.0 | D | 0.859 | deleterious | D | 0.721773049 | None | None | N |
| D/C | 0.9868 | likely_pathogenic | 0.9833 | pathogenic | 0.287 | Stabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | N |
| D/E | 0.8918 | likely_pathogenic | 0.8784 | pathogenic | -0.702 | Destabilizing | 1.0 | D | 0.586 | neutral | D | 0.779499339 | None | None | N |
| D/F | 0.9892 | likely_pathogenic | 0.9893 | pathogenic | 0.929 | Stabilizing | 1.0 | D | 0.88 | deleterious | None | None | None | None | N |
| D/G | 0.9648 | likely_pathogenic | 0.9571 | pathogenic | -0.206 | Destabilizing | 1.0 | D | 0.785 | deleterious | D | 0.777602565 | None | None | N |
| D/H | 0.9175 | likely_pathogenic | 0.906 | pathogenic | 0.618 | Stabilizing | 1.0 | D | 0.85 | deleterious | D | 0.584553503 | None | None | N |
| D/I | 0.989 | likely_pathogenic | 0.9872 | pathogenic | 1.497 | Stabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | N |
| D/K | 0.9947 | likely_pathogenic | 0.9932 | pathogenic | 0.336 | Stabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | N |
| D/L | 0.9835 | likely_pathogenic | 0.983 | pathogenic | 1.497 | Stabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | N |
| D/M | 0.9948 | likely_pathogenic | 0.9935 | pathogenic | 1.873 | Stabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | N |
| D/N | 0.7808 | likely_pathogenic | 0.7409 | pathogenic | -0.559 | Destabilizing | 1.0 | D | 0.785 | deleterious | D | 0.685499912 | None | None | N |
| D/P | 0.9984 | likely_pathogenic | 0.9982 | pathogenic | 1.114 | Stabilizing | 1.0 | D | 0.848 | deleterious | None | None | None | None | N |
| D/Q | 0.9875 | likely_pathogenic | 0.9837 | pathogenic | -0.247 | Destabilizing | 1.0 | D | 0.782 | deleterious | None | None | None | None | N |
| D/R | 0.9957 | likely_pathogenic | 0.995 | pathogenic | 0.368 | Stabilizing | 1.0 | D | 0.871 | deleterious | None | None | None | None | N |
| D/S | 0.9225 | likely_pathogenic | 0.9075 | pathogenic | -0.804 | Destabilizing | 1.0 | D | 0.748 | deleterious | None | None | None | None | N |
| D/T | 0.983 | likely_pathogenic | 0.9786 | pathogenic | -0.375 | Destabilizing | 1.0 | D | 0.836 | deleterious | None | None | None | None | N |
| D/V | 0.9688 | likely_pathogenic | 0.9644 | pathogenic | 1.114 | Stabilizing | 1.0 | D | 0.872 | deleterious | D | 0.777580082 | None | None | N |
| D/W | 0.9982 | likely_pathogenic | 0.9979 | pathogenic | 1.037 | Stabilizing | 1.0 | D | 0.828 | deleterious | None | None | None | None | N |
| D/Y | 0.9143 | likely_pathogenic | 0.9088 | pathogenic | 1.234 | Stabilizing | 1.0 | D | 0.878 | deleterious | D | 0.777672243 | 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.