Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 5545 | 16858;16859;16860 | chr2:178732336;178732335;178732334 | chr2:179597063;179597062;179597061 |
| N2AB | 5228 | 15907;15908;15909 | chr2:178732336;178732335;178732334 | chr2:179597063;179597062;179597061 |
| N2A | 4301 | 13126;13127;13128 | chr2:178732336;178732335;178732334 | chr2:179597063;179597062;179597061 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/L | rs1372586778  |
-2.156 | 0.999 | N | 0.546 | 0.46 | 0.292062946507 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 6.48E-05 | 0 |
| F/L | rs1372586778 |
-2.156 | 0.999 | N | 0.546 | 0.46 | 0.292062946507 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| F/L | rs1372586778 |
-2.156 | 0.999 | N | 0.546 | 0.46 | 0.292062946507 | gnomAD-4.0.0 | 3.04478E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.20492E-06 | 0 | 6.80457E-05 |
| F/S | rs999328804 |
None | 1.0 | N | 0.738 | 0.513 | 0.755701663775 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 4.83E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| F/S | rs999328804 |
None | 1.0 | N | 0.738 | 0.513 | 0.755701663775 | gnomAD-4.0.0 | 3.04492E-06 | None | None | None | None | N | None | 3.49516E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 1.20495E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/A | 0.959 | likely_pathogenic | 0.9659 | pathogenic | -3.028 | Highly Destabilizing | 1.0 | D | 0.673 | neutral | None | None | None | None | N |
| F/C | 0.9244 | likely_pathogenic | 0.947 | pathogenic | -1.805 | Destabilizing | 1.0 | D | 0.801 | deleterious | D | 0.522615405 | None | None | N |
| F/D | 0.9963 | likely_pathogenic | 0.9963 | pathogenic | -2.983 | Highly Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | N |
| F/E | 0.9959 | likely_pathogenic | 0.9961 | pathogenic | -2.909 | Highly Destabilizing | 1.0 | D | 0.792 | deleterious | None | None | None | None | N |
| F/G | 0.9896 | likely_pathogenic | 0.9911 | pathogenic | -3.347 | Highly Destabilizing | 1.0 | D | 0.761 | deleterious | None | None | None | None | N |
| F/H | 0.975 | likely_pathogenic | 0.9791 | pathogenic | -1.56 | Destabilizing | 1.0 | D | 0.787 | deleterious | None | None | None | None | N |
| F/I | 0.6305 | likely_pathogenic | 0.6724 | pathogenic | -2.017 | Highly Destabilizing | 1.0 | D | 0.719 | prob.delet. | N | 0.464411392 | None | None | N |
| F/K | 0.9947 | likely_pathogenic | 0.9953 | pathogenic | -1.682 | Destabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | N |
| F/L | 0.9736 | likely_pathogenic | 0.9784 | pathogenic | -2.017 | Highly Destabilizing | 0.999 | D | 0.546 | neutral | N | 0.476123319 | None | None | N |
| F/M | 0.8707 | likely_pathogenic | 0.8948 | pathogenic | -1.705 | Destabilizing | 1.0 | D | 0.764 | deleterious | None | None | None | None | N |
| F/N | 0.9857 | likely_pathogenic | 0.9878 | pathogenic | -1.764 | Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | N |
| F/P | 0.9957 | likely_pathogenic | 0.9966 | pathogenic | -2.357 | Highly Destabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | N |
| F/Q | 0.9929 | likely_pathogenic | 0.9938 | pathogenic | -2.008 | Highly Destabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | N |
| F/R | 0.9838 | likely_pathogenic | 0.9858 | pathogenic | -0.817 | Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | N |
| F/S | 0.9625 | likely_pathogenic | 0.9672 | pathogenic | -2.424 | Highly Destabilizing | 1.0 | D | 0.738 | prob.delet. | N | 0.521094468 | None | None | N |
| F/T | 0.9634 | likely_pathogenic | 0.9691 | pathogenic | -2.261 | Highly Destabilizing | 1.0 | D | 0.745 | deleterious | None | None | None | None | N |
| F/V | 0.6373 | likely_pathogenic | 0.6842 | pathogenic | -2.357 | Highly Destabilizing | 1.0 | D | 0.698 | prob.neutral | N | 0.486100499 | None | None | N |
| F/W | 0.8753 | likely_pathogenic | 0.8939 | pathogenic | -0.904 | Destabilizing | 1.0 | D | 0.749 | deleterious | None | None | None | None | N |
| F/Y | 0.6566 | likely_pathogenic | 0.7098 | pathogenic | -1.194 | Destabilizing | 0.999 | D | 0.507 | neutral | N | 0.510245142 | 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.