Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 34447 | 103564;103565;103566 | chr2:178533276;178533275;178533274 | chr2:179398003;179398002;179398001 |
| N2AB | 32806 | 98641;98642;98643 | chr2:178533276;178533275;178533274 | chr2:179398003;179398002;179398001 |
| N2A | 31879 | 95860;95861;95862 | chr2:178533276;178533275;178533274 | chr2:179398003;179398002;179398001 |
| N2B | 25382 | 76369;76370;76371 | chr2:178533276;178533275;178533274 | chr2:179398003;179398002;179398001 |
| Novex-1 | 25507 | 76744;76745;76746 | chr2:178533276;178533275;178533274 | chr2:179398003;179398002;179398001 |
| Novex-2 | 25574 | 76945;76946;76947 | chr2:178533276;178533275;178533274 | chr2:179398003;179398002;179398001 |
| 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/F | rs770558110  |
-1.539 | 1.0 | N | 0.913 | 0.568 | 0.839760408319 | 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 |
| C/F | rs770558110 |
-1.539 | 1.0 | N | 0.913 | 0.568 | 0.839760408319 | gnomAD-4.0.0 | 1.59093E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43271E-05 | 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 | 0.922 | likely_pathogenic | 0.9156 | pathogenic | -1.595 | Destabilizing | 0.998 | D | 0.602 | neutral | None | None | None | None | N |
| C/D | 0.9988 | likely_pathogenic | 0.998 | pathogenic | 0.051 | Stabilizing | 1.0 | D | 0.897 | deleterious | None | None | None | None | N |
| C/E | 0.9994 | likely_pathogenic | 0.9992 | pathogenic | 0.214 | Stabilizing | 1.0 | D | 0.911 | deleterious | None | None | None | None | N |
| C/F | 0.9589 | likely_pathogenic | 0.9487 | pathogenic | -0.952 | Destabilizing | 1.0 | D | 0.913 | deleterious | N | 0.491719944 | None | None | N |
| C/G | 0.9207 | likely_pathogenic | 0.8966 | pathogenic | -1.94 | Destabilizing | 1.0 | D | 0.848 | deleterious | N | 0.518282093 | None | None | N |
| C/H | 0.9959 | likely_pathogenic | 0.9946 | pathogenic | -1.881 | Destabilizing | 1.0 | D | 0.891 | deleterious | None | None | None | None | N |
| C/I | 0.9678 | likely_pathogenic | 0.9692 | pathogenic | -0.69 | Destabilizing | 1.0 | D | 0.824 | deleterious | None | None | None | None | N |
| C/K | 0.9995 | likely_pathogenic | 0.9995 | pathogenic | -0.443 | Destabilizing | 1.0 | D | 0.893 | deleterious | None | None | None | None | N |
| C/L | 0.9551 | likely_pathogenic | 0.9531 | pathogenic | -0.69 | Destabilizing | 0.999 | D | 0.664 | neutral | None | None | None | None | N |
| C/M | 0.976 | likely_pathogenic | 0.9766 | pathogenic | 0.152 | Stabilizing | 1.0 | D | 0.876 | deleterious | None | None | None | None | N |
| C/N | 0.9928 | likely_pathogenic | 0.9901 | pathogenic | -0.734 | Destabilizing | 1.0 | D | 0.911 | deleterious | None | None | None | None | N |
| C/P | 0.9995 | likely_pathogenic | 0.9993 | pathogenic | -0.965 | Destabilizing | 1.0 | D | 0.91 | deleterious | None | None | None | None | N |
| C/Q | 0.9972 | likely_pathogenic | 0.9969 | pathogenic | -0.44 | Destabilizing | 1.0 | D | 0.909 | deleterious | None | None | None | None | N |
| C/R | 0.9955 | likely_pathogenic | 0.9948 | pathogenic | -0.622 | Destabilizing | 1.0 | D | 0.913 | deleterious | N | 0.494866515 | None | None | N |
| C/S | 0.9117 | likely_pathogenic | 0.8839 | pathogenic | -1.279 | Destabilizing | 1.0 | D | 0.808 | deleterious | N | 0.444282979 | None | None | N |
| C/T | 0.9457 | likely_pathogenic | 0.9435 | pathogenic | -0.9 | Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | N |
| C/V | 0.9112 | likely_pathogenic | 0.9125 | pathogenic | -0.965 | Destabilizing | 0.999 | D | 0.732 | prob.delet. | None | None | None | None | N |
| C/W | 0.9946 | likely_pathogenic | 0.9919 | pathogenic | -0.99 | Destabilizing | 1.0 | D | 0.887 | deleterious | D | 0.526074857 | None | None | N |
| C/Y | 0.9885 | likely_pathogenic | 0.9844 | pathogenic | -0.918 | Destabilizing | 1.0 | D | 0.915 | deleterious | N | 0.488846335 | 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.