Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 31682 | 95269;95270;95271 | chr2:178546287;178546286;178546285 | chr2:179411014;179411013;179411012 |
| N2AB | 30041 | 90346;90347;90348 | chr2:178546287;178546286;178546285 | chr2:179411014;179411013;179411012 |
| N2A | 29114 | 87565;87566;87567 | chr2:178546287;178546286;178546285 | chr2:179411014;179411013;179411012 |
| N2B | 22617 | 68074;68075;68076 | chr2:178546287;178546286;178546285 | chr2:179411014;179411013;179411012 |
| Novex-1 | 22742 | 68449;68450;68451 | chr2:178546287;178546286;178546285 | chr2:179411014;179411013;179411012 |
| Novex-2 | 22809 | 68650;68651;68652 | chr2:178546287;178546286;178546285 | chr2:179411014;179411013;179411012 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/E | rs1447931152  |
-0.206 | 1.0 | D | 0.603 | 0.685 | 0.67028951277 | 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 |
| D/E | rs1447931152 |
-0.206 | 1.0 | D | 0.603 | 0.685 | 0.67028951277 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| D/E | rs1447931152 |
-0.206 | 1.0 | D | 0.603 | 0.685 | 0.67028951277 | gnomAD-4.0.0 | 1.23938E-06 | None | None | None | None | N | None | 1.33483E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 8.47621E-07 | 0 | 0 |
| D/G | None | None | 1.0 | D | 0.785 | 0.885 | 0.73442195143 | gnomAD-4.0.0 | 1.59129E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85847E-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 | 0.9595 | likely_pathogenic | 0.9576 | pathogenic | -0.382 | Destabilizing | 1.0 | D | 0.826 | deleterious | D | 0.633192916 | None | None | N |
| D/C | 0.9755 | likely_pathogenic | 0.9734 | pathogenic | -0.083 | Destabilizing | 1.0 | D | 0.81 | deleterious | None | None | None | None | N |
| D/E | 0.9146 | likely_pathogenic | 0.9154 | pathogenic | -0.831 | Destabilizing | 1.0 | D | 0.603 | neutral | D | 0.602729344 | None | None | N |
| D/F | 0.9881 | likely_pathogenic | 0.9876 | pathogenic | 0.04 | Stabilizing | 1.0 | D | 0.834 | deleterious | None | None | None | None | N |
| D/G | 0.9722 | likely_pathogenic | 0.9733 | pathogenic | -0.757 | Destabilizing | 1.0 | D | 0.785 | deleterious | D | 0.649414081 | None | None | N |
| D/H | 0.8547 | likely_pathogenic | 0.8594 | pathogenic | -0.273 | Destabilizing | 1.0 | D | 0.801 | deleterious | D | 0.582520301 | None | None | N |
| D/I | 0.9899 | likely_pathogenic | 0.99 | pathogenic | 0.613 | Stabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | None | N |
| D/K | 0.9917 | likely_pathogenic | 0.9917 | pathogenic | -0.056 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | N |
| D/L | 0.9859 | likely_pathogenic | 0.9855 | pathogenic | 0.613 | Stabilizing | 1.0 | D | 0.812 | deleterious | None | None | None | None | N |
| D/M | 0.9927 | likely_pathogenic | 0.993 | pathogenic | 1.097 | Stabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | N |
| D/N | 0.5912 | likely_pathogenic | 0.5967 | pathogenic | -0.754 | Destabilizing | 1.0 | D | 0.777 | deleterious | D | 0.622059731 | None | None | N |
| D/P | 0.9989 | likely_pathogenic | 0.9989 | pathogenic | 0.308 | Stabilizing | 1.0 | D | 0.798 | deleterious | None | None | None | None | N |
| D/Q | 0.9721 | likely_pathogenic | 0.9724 | pathogenic | -0.549 | Destabilizing | 1.0 | D | 0.763 | deleterious | None | None | None | None | N |
| D/R | 0.992 | likely_pathogenic | 0.9917 | pathogenic | 0.028 | Stabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | N |
| D/S | 0.8337 | likely_pathogenic | 0.8361 | pathogenic | -0.936 | Destabilizing | 1.0 | D | 0.76 | deleterious | None | None | None | None | N |
| D/T | 0.9778 | likely_pathogenic | 0.9792 | pathogenic | -0.599 | Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | N |
| D/V | 0.9706 | likely_pathogenic | 0.97 | pathogenic | 0.308 | Stabilizing | 1.0 | D | 0.819 | deleterious | D | 0.64981769 | None | None | N |
| D/W | 0.998 | likely_pathogenic | 0.9981 | pathogenic | 0.222 | Stabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | N |
| D/Y | 0.9171 | likely_pathogenic | 0.9095 | pathogenic | 0.308 | Stabilizing | 1.0 | D | 0.828 | deleterious | D | 0.633596524 | 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.