Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 25630 | 77113;77114;77115 | chr2:178569244;178569243;178569242 | chr2:179433971;179433970;179433969 |
| N2AB | 23989 | 72190;72191;72192 | chr2:178569244;178569243;178569242 | chr2:179433971;179433970;179433969 |
| N2A | 23062 | 69409;69410;69411 | chr2:178569244;178569243;178569242 | chr2:179433971;179433970;179433969 |
| N2B | 16565 | 49918;49919;49920 | chr2:178569244;178569243;178569242 | chr2:179433971;179433970;179433969 |
| Novex-1 | 16690 | 50293;50294;50295 | chr2:178569244;178569243;178569242 | chr2:179433971;179433970;179433969 |
| Novex-2 | 16757 | 50494;50495;50496 | chr2:178569244;178569243;178569242 | chr2:179433971;179433970;179433969 |
| 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 | None | None | 0.998 | N | 0.621 | 0.476 | 0.367612772649 | gnomAD-4.0.0 | 1.37852E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.34158E-05 |
| G/R | None | None | 1.0 | N | 0.807 | 0.544 | 0.748803425509 | gnomAD-4.0.0 | 1.20033E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.31251E-06 | 0 | 0 |
| G/V | rs760386525  |
-0.094 | 1.0 | D | 0.805 | 0.566 | None | gnomAD-2.1.1 | 2.49E-05 | None | None | None | None | I | None | 0 | 1.48677E-04 | None | 0 | 0 | None | 0 | None | 0 | 9.1E-06 | 0 |
| G/V | rs760386525 |
-0.094 | 1.0 | D | 0.805 | 0.566 | None | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | I | None | 0 | 6.56E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/V | rs760386525 |
-0.094 | 1.0 | D | 0.805 | 0.566 | None | gnomAD-4.0.0 | 6.23888E-06 | None | None | None | None | I | None | 0 | 1.35598E-04 | None | 0 | 2.23464E-05 | None | 0 | 0 | 8.51821E-07 | 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 | 0.8026 | likely_pathogenic | 0.8417 | pathogenic | -0.237 | Destabilizing | 0.998 | D | 0.621 | neutral | N | 0.514052664 | None | None | I |
| G/C | 0.8612 | likely_pathogenic | 0.8993 | pathogenic | -0.867 | Destabilizing | 1.0 | D | 0.796 | deleterious | None | None | None | None | I |
| G/D | 0.9831 | likely_pathogenic | 0.9864 | pathogenic | -0.21 | Destabilizing | 1.0 | D | 0.706 | prob.neutral | None | None | None | None | I |
| G/E | 0.9862 | likely_pathogenic | 0.9888 | pathogenic | -0.36 | Destabilizing | 1.0 | D | 0.804 | deleterious | D | 0.53212092 | None | None | I |
| G/F | 0.9765 | likely_pathogenic | 0.9834 | pathogenic | -0.95 | Destabilizing | 1.0 | D | 0.788 | deleterious | None | None | None | None | I |
| G/H | 0.9854 | likely_pathogenic | 0.9904 | pathogenic | -0.344 | Destabilizing | 1.0 | D | 0.781 | deleterious | None | None | None | None | I |
| G/I | 0.9748 | likely_pathogenic | 0.981 | pathogenic | -0.422 | Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | I |
| G/K | 0.9915 | likely_pathogenic | 0.9935 | pathogenic | -0.518 | Destabilizing | 1.0 | D | 0.804 | deleterious | None | None | None | None | I |
| G/L | 0.973 | likely_pathogenic | 0.9809 | pathogenic | -0.422 | Destabilizing | 1.0 | D | 0.816 | deleterious | None | None | None | None | I |
| G/M | 0.9809 | likely_pathogenic | 0.9865 | pathogenic | -0.572 | Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | I |
| G/N | 0.9538 | likely_pathogenic | 0.9675 | pathogenic | -0.225 | Destabilizing | 1.0 | D | 0.696 | prob.neutral | None | None | None | None | I |
| G/P | 0.998 | likely_pathogenic | 0.9985 | pathogenic | -0.332 | Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | I |
| G/Q | 0.9782 | likely_pathogenic | 0.9848 | pathogenic | -0.453 | Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | I |
| G/R | 0.9751 | likely_pathogenic | 0.9815 | pathogenic | -0.154 | Destabilizing | 1.0 | D | 0.807 | deleterious | N | 0.519029867 | None | None | I |
| G/S | 0.6966 | likely_pathogenic | 0.7584 | pathogenic | -0.419 | Destabilizing | 1.0 | D | 0.709 | prob.delet. | None | None | None | None | I |
| G/T | 0.9446 | likely_pathogenic | 0.958 | pathogenic | -0.488 | Destabilizing | 1.0 | D | 0.804 | deleterious | None | None | None | None | I |
| G/V | 0.9599 | likely_pathogenic | 0.9687 | pathogenic | -0.332 | Destabilizing | 1.0 | D | 0.805 | deleterious | D | 0.561074501 | None | None | I |
| G/W | 0.982 | likely_pathogenic | 0.9868 | pathogenic | -1.068 | Destabilizing | 1.0 | D | 0.785 | deleterious | None | None | None | None | I |
| G/Y | 0.9759 | likely_pathogenic | 0.9824 | pathogenic | -0.732 | Destabilizing | 1.0 | D | 0.781 | 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.