Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 23437 | 70534;70535;70536 | chr2:178575823;178575822;178575821 | chr2:179440550;179440549;179440548 |
| N2AB | 21796 | 65611;65612;65613 | chr2:178575823;178575822;178575821 | chr2:179440550;179440549;179440548 |
| N2A | 20869 | 62830;62831;62832 | chr2:178575823;178575822;178575821 | chr2:179440550;179440549;179440548 |
| N2B | 14372 | 43339;43340;43341 | chr2:178575823;178575822;178575821 | chr2:179440550;179440549;179440548 |
| Novex-1 | 14497 | 43714;43715;43716 | chr2:178575823;178575822;178575821 | chr2:179440550;179440549;179440548 |
| Novex-2 | 14564 | 43915;43916;43917 | chr2:178575823;178575822;178575821 | chr2:179440550;179440549;179440548 |
| 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 | rs1250159193  |
-1.818 | 1.0 | N | 0.861 | 0.405 | 0.247872288689 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| G/D | rs1250159193 |
-1.818 | 1.0 | N | 0.861 | 0.405 | 0.247872288689 | gnomAD-4.0.0 | 1.59207E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43303E-05 | 0 |
| G/S | rs1448001247 |
-1.138 | 1.0 | N | 0.784 | 0.475 | 0.225215365344 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.88E-06 | 0 |
| G/S | rs1448001247 |
-1.138 | 1.0 | N | 0.784 | 0.475 | 0.225215365344 | gnomAD-4.0.0 | 1.59196E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85986E-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 | 0.4668 | ambiguous | 0.5315 | ambiguous | -0.831 | Destabilizing | 1.0 | D | 0.729 | prob.delet. | N | 0.496688288 | None | None | N |
| G/C | 0.8629 | likely_pathogenic | 0.9194 | pathogenic | -1.232 | Destabilizing | 1.0 | D | 0.781 | deleterious | D | 0.532696215 | None | None | N |
| G/D | 0.9637 | likely_pathogenic | 0.9803 | pathogenic | -1.939 | Destabilizing | 1.0 | D | 0.861 | deleterious | N | 0.470769219 | None | None | N |
| G/E | 0.9605 | likely_pathogenic | 0.9808 | pathogenic | -1.972 | Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | N |
| G/F | 0.9799 | likely_pathogenic | 0.9904 | pathogenic | -1.127 | Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | N |
| G/H | 0.9835 | likely_pathogenic | 0.9919 | pathogenic | -1.389 | Destabilizing | 1.0 | D | 0.796 | deleterious | None | None | None | None | N |
| G/I | 0.9766 | likely_pathogenic | 0.9873 | pathogenic | -0.413 | Destabilizing | 1.0 | D | 0.85 | deleterious | None | None | None | None | N |
| G/K | 0.9888 | likely_pathogenic | 0.9951 | pathogenic | -1.294 | Destabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | N |
| G/L | 0.9506 | likely_pathogenic | 0.9716 | pathogenic | -0.413 | Destabilizing | 1.0 | D | 0.856 | deleterious | None | None | None | None | N |
| G/M | 0.9701 | likely_pathogenic | 0.9851 | pathogenic | -0.463 | Destabilizing | 1.0 | D | 0.79 | deleterious | None | None | None | None | N |
| G/N | 0.9603 | likely_pathogenic | 0.979 | pathogenic | -1.131 | Destabilizing | 1.0 | D | 0.826 | deleterious | None | None | None | None | N |
| G/P | 0.9966 | likely_pathogenic | 0.9973 | pathogenic | -0.514 | Destabilizing | 1.0 | D | 0.854 | deleterious | None | None | None | None | N |
| G/Q | 0.9658 | likely_pathogenic | 0.9843 | pathogenic | -1.338 | Destabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | N |
| G/R | 0.9723 | likely_pathogenic | 0.9875 | pathogenic | -1.005 | Destabilizing | 1.0 | D | 0.855 | deleterious | N | 0.520072462 | None | None | N |
| G/S | 0.3832 | ambiguous | 0.4682 | ambiguous | -1.332 | Destabilizing | 1.0 | D | 0.784 | deleterious | N | 0.466232861 | None | None | N |
| G/T | 0.886 | likely_pathogenic | 0.9329 | pathogenic | -1.298 | Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | N |
| G/V | 0.9533 | likely_pathogenic | 0.9741 | pathogenic | -0.514 | Destabilizing | 1.0 | D | 0.86 | deleterious | N | 0.514338471 | None | None | N |
| G/W | 0.9783 | likely_pathogenic | 0.99 | pathogenic | -1.501 | Destabilizing | 1.0 | D | 0.769 | deleterious | None | None | None | None | N |
| G/Y | 0.9769 | likely_pathogenic | 0.989 | pathogenic | -1.084 | Destabilizing | 1.0 | D | 0.839 | 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.