Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2600 | 8023;8024;8025 | chr2:178773166;178773165;178773164 | chr2:179637893;179637892;179637891 |
| N2AB | 2600 | 8023;8024;8025 | chr2:178773166;178773165;178773164 | chr2:179637893;179637892;179637891 |
| N2A | 2600 | 8023;8024;8025 | chr2:178773166;178773165;178773164 | chr2:179637893;179637892;179637891 |
| N2B | 2554 | 7885;7886;7887 | chr2:178773166;178773165;178773164 | chr2:179637893;179637892;179637891 |
| Novex-1 | 2554 | 7885;7886;7887 | chr2:178773166;178773165;178773164 | chr2:179637893;179637892;179637891 |
| Novex-2 | 2554 | 7885;7886;7887 | chr2:178773166;178773165;178773164 | chr2:179637893;179637892;179637891 |
| Novex-3 | 2600 | 8023;8024;8025 | chr2:178773166;178773165;178773164 | chr2:179637893;179637892;179637891 |
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 | rs1574610507  |
None | 1.0 | D | 0.736 | 0.697 | 0.48461828368 | gnomAD-4.0.0 | 6.84257E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.5227E-05 | None | 0 | 0 | 0 | 0 | 0 |
| G/R | None | None | 1.0 | D | 0.86 | 0.796 | 0.719949715019 | gnomAD-4.0.0 | 1.20039E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.31256E-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 | 0.5338 | ambiguous | 0.4909 | ambiguous | -0.137 | Destabilizing | 1.0 | D | 0.736 | prob.delet. | D | 0.58048061 | None | None | N |
| G/C | 0.8916 | likely_pathogenic | 0.8666 | pathogenic | -0.139 | Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | N |
| G/D | 0.7501 | likely_pathogenic | 0.7048 | pathogenic | -0.623 | Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | N |
| G/E | 0.8773 | likely_pathogenic | 0.8464 | pathogenic | -0.516 | Destabilizing | 1.0 | D | 0.858 | deleterious | D | 0.739326956 | None | None | N |
| G/F | 0.9905 | likely_pathogenic | 0.9878 | pathogenic | -0.268 | Destabilizing | 1.0 | D | 0.834 | deleterious | None | None | None | None | N |
| G/H | 0.9858 | likely_pathogenic | 0.9804 | pathogenic | -1.094 | Destabilizing | 1.0 | D | 0.794 | deleterious | None | None | None | None | N |
| G/I | 0.9829 | likely_pathogenic | 0.9764 | pathogenic | 0.733 | Stabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | N |
| G/K | 0.9811 | likely_pathogenic | 0.972 | pathogenic | -0.386 | Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | N |
| G/L | 0.977 | likely_pathogenic | 0.9707 | pathogenic | 0.733 | Stabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | N |
| G/M | 0.9803 | likely_pathogenic | 0.9747 | pathogenic | 0.515 | Stabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | N |
| G/N | 0.9276 | likely_pathogenic | 0.9097 | pathogenic | -0.378 | Destabilizing | 1.0 | D | 0.814 | deleterious | None | None | None | None | N |
| G/P | 0.9986 | likely_pathogenic | 0.9982 | pathogenic | 0.489 | Stabilizing | 1.0 | D | 0.854 | deleterious | None | None | None | None | N |
| G/Q | 0.9512 | likely_pathogenic | 0.936 | pathogenic | -0.268 | Destabilizing | 1.0 | D | 0.848 | deleterious | None | None | None | None | N |
| G/R | 0.9592 | likely_pathogenic | 0.9444 | pathogenic | -0.558 | Destabilizing | 1.0 | D | 0.86 | deleterious | D | 0.702306284 | None | None | N |
| G/S | 0.5629 | ambiguous | 0.5034 | ambiguous | -0.756 | Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | N |
| G/T | 0.9163 | likely_pathogenic | 0.8917 | pathogenic | -0.523 | Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | N |
| G/V | 0.9544 | likely_pathogenic | 0.9399 | pathogenic | 0.489 | Stabilizing | 1.0 | D | 0.851 | deleterious | D | 0.70238216 | None | None | N |
| G/W | 0.9759 | likely_pathogenic | 0.9681 | pathogenic | -0.961 | Destabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | N |
| G/Y | 0.9804 | likely_pathogenic | 0.9747 | pathogenic | -0.277 | Destabilizing | 1.0 | D | 0.829 | deleterious | 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.