Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 6969 | 21130;21131;21132 | chr2:178724470;178724469;178724468 | chr2:179589197;179589196;179589195 |
| N2AB | 6652 | 20179;20180;20181 | chr2:178724470;178724469;178724468 | chr2:179589197;179589196;179589195 |
| N2A | 5725 | 17398;17399;17400 | chr2:178724470;178724469;178724468 | chr2:179589197;179589196;179589195 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/R | rs368762020  |
-0.641 | 0.966 | D | 0.853 | 0.47 | 0.842632066669 | gnomAD-2.1.1 | 4.43E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.59971E-04 | None | 0 | 0 | 0 |
| C/R | rs368762020 |
-0.641 | 0.966 | D | 0.853 | 0.47 | 0.842632066669 | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 4.158E-04 | 0 |
| C/R | rs368762020 |
-0.641 | 0.966 | D | 0.853 | 0.47 | 0.842632066669 | gnomAD-4.0.0 | 1.36424E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 2.4179E-04 | 0 |
| C/S | rs368762020 |
-1.638 | 0.454 | D | 0.701 | 0.424 | 0.613482770441 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 6.47E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| C/S | rs368762020 |
-1.638 | 0.454 | D | 0.701 | 0.424 | 0.613482770441 | gnomAD-4.0.0 | 3.72039E-06 | None | None | None | None | N | None | 8.01196E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/A | 0.8563 | likely_pathogenic | 0.8545 | pathogenic | -1.655 | Destabilizing | 0.029 | N | 0.287 | neutral | None | None | None | None | N |
| C/D | 0.9978 | likely_pathogenic | 0.9974 | pathogenic | -1.276 | Destabilizing | 0.974 | D | 0.831 | deleterious | None | None | None | None | N |
| C/E | 0.9982 | likely_pathogenic | 0.9983 | pathogenic | -1.035 | Destabilizing | 0.974 | D | 0.833 | deleterious | None | None | None | None | N |
| C/F | 0.8284 | likely_pathogenic | 0.8237 | pathogenic | -1.008 | Destabilizing | 0.012 | N | 0.63 | neutral | D | 0.538378798 | None | None | N |
| C/G | 0.6945 | likely_pathogenic | 0.6531 | pathogenic | -2.031 | Highly Destabilizing | 0.801 | D | 0.781 | deleterious | D | 0.526857908 | None | None | N |
| C/H | 0.9947 | likely_pathogenic | 0.9944 | pathogenic | -2.212 | Highly Destabilizing | 0.998 | D | 0.861 | deleterious | None | None | None | None | N |
| C/I | 0.7283 | likely_pathogenic | 0.7977 | pathogenic | -0.636 | Destabilizing | 0.728 | D | 0.747 | deleterious | None | None | None | None | N |
| C/K | 0.9993 | likely_pathogenic | 0.9992 | pathogenic | -0.929 | Destabilizing | 0.974 | D | 0.823 | deleterious | None | None | None | None | N |
| C/L | 0.8282 | likely_pathogenic | 0.8513 | pathogenic | -0.636 | Destabilizing | 0.525 | D | 0.713 | prob.delet. | None | None | None | None | N |
| C/M | 0.9012 | likely_pathogenic | 0.9047 | pathogenic | 0.206 | Stabilizing | 0.974 | D | 0.804 | deleterious | None | None | None | None | N |
| C/N | 0.9824 | likely_pathogenic | 0.9823 | pathogenic | -1.539 | Destabilizing | 0.974 | D | 0.85 | deleterious | None | None | None | None | N |
| C/P | 0.9987 | likely_pathogenic | 0.9987 | pathogenic | -0.953 | Destabilizing | 0.974 | D | 0.85 | deleterious | None | None | None | None | N |
| C/Q | 0.9961 | likely_pathogenic | 0.9957 | pathogenic | -1.06 | Destabilizing | 0.991 | D | 0.859 | deleterious | None | None | None | None | N |
| C/R | 0.994 | likely_pathogenic | 0.9913 | pathogenic | -1.379 | Destabilizing | 0.966 | D | 0.853 | deleterious | D | 0.549988593 | None | None | N |
| C/S | 0.89 | likely_pathogenic | 0.9001 | pathogenic | -1.872 | Destabilizing | 0.454 | N | 0.701 | prob.neutral | D | 0.538378798 | None | None | N |
| C/T | 0.8865 | likely_pathogenic | 0.9085 | pathogenic | -1.432 | Destabilizing | 0.067 | N | 0.559 | neutral | None | None | None | None | N |
| C/V | 0.5324 | ambiguous | 0.6492 | pathogenic | -0.953 | Destabilizing | 0.688 | D | 0.703 | prob.neutral | None | None | None | None | N |
| C/W | 0.9813 | likely_pathogenic | 0.9789 | pathogenic | -1.358 | Destabilizing | 0.997 | D | 0.844 | deleterious | D | 0.549988593 | None | None | N |
| C/Y | 0.9326 | likely_pathogenic | 0.9391 | pathogenic | -1.167 | Destabilizing | 0.876 | D | 0.815 | deleterious | D | 0.549735103 | 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.