Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 9021 | 27286;27287;27288 | chr2:178712964;178712963;178712962 | chr2:179577691;179577690;179577689 |
| N2AB | 8704 | 26335;26336;26337 | chr2:178712964;178712963;178712962 | chr2:179577691;179577690;179577689 |
| N2A | 7777 | 23554;23555;23556 | chr2:178712964;178712963;178712962 | chr2:179577691;179577690;179577689 |
| 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 | rs754185678  |
-1.713 | 0.948 | N | 0.649 | 0.701 | 0.448696893172 | gnomAD-2.1.1 | 4.05E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.95E-06 | 0 |
| F/L | rs754185678 |
-1.713 | 0.948 | N | 0.649 | 0.701 | 0.448696893172 | gnomAD-4.0.0 | 1.59495E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86541E-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 | 0.9695 | likely_pathogenic | 0.9834 | pathogenic | -2.725 | Highly Destabilizing | 0.996 | D | 0.805 | deleterious | None | None | None | None | N |
| F/C | 0.9264 | likely_pathogenic | 0.9577 | pathogenic | -1.462 | Destabilizing | 1.0 | D | 0.851 | deleterious | D | 0.569214117 | None | None | N |
| F/D | 0.9952 | likely_pathogenic | 0.9978 | pathogenic | -1.924 | Destabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | N |
| F/E | 0.9953 | likely_pathogenic | 0.9977 | pathogenic | -1.823 | Destabilizing | 1.0 | D | 0.864 | deleterious | None | None | None | None | N |
| F/G | 0.9929 | likely_pathogenic | 0.9966 | pathogenic | -3.078 | Highly Destabilizing | 1.0 | D | 0.852 | deleterious | None | None | None | None | N |
| F/H | 0.9768 | likely_pathogenic | 0.9866 | pathogenic | -1.283 | Destabilizing | 1.0 | D | 0.773 | deleterious | None | None | None | None | N |
| F/I | 0.5088 | ambiguous | 0.5945 | pathogenic | -1.629 | Destabilizing | 0.733 | D | 0.472 | neutral | N | 0.489330542 | None | None | N |
| F/K | 0.9971 | likely_pathogenic | 0.9985 | pathogenic | -1.493 | Destabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | N |
| F/L | 0.9574 | likely_pathogenic | 0.9746 | pathogenic | -1.629 | Destabilizing | 0.948 | D | 0.649 | neutral | N | 0.513074018 | None | None | N |
| F/M | 0.8439 | likely_pathogenic | 0.8935 | pathogenic | -1.276 | Destabilizing | 0.999 | D | 0.738 | prob.delet. | None | None | None | None | N |
| F/N | 0.9869 | likely_pathogenic | 0.9936 | pathogenic | -1.543 | Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | N |
| F/P | 0.9963 | likely_pathogenic | 0.9981 | pathogenic | -1.994 | Destabilizing | 1.0 | D | 0.874 | deleterious | None | None | None | None | N |
| F/Q | 0.994 | likely_pathogenic | 0.9968 | pathogenic | -1.697 | Destabilizing | 1.0 | D | 0.872 | deleterious | None | None | None | None | N |
| F/R | 0.9913 | likely_pathogenic | 0.9951 | pathogenic | -0.738 | Destabilizing | 1.0 | D | 0.878 | deleterious | None | None | None | None | N |
| F/S | 0.9659 | likely_pathogenic | 0.9835 | pathogenic | -2.339 | Highly Destabilizing | 0.999 | D | 0.851 | deleterious | D | 0.545994527 | None | None | N |
| F/T | 0.9684 | likely_pathogenic | 0.9841 | pathogenic | -2.147 | Highly Destabilizing | 0.999 | D | 0.834 | deleterious | None | None | None | None | N |
| F/V | 0.5901 | likely_pathogenic | 0.6773 | pathogenic | -1.994 | Destabilizing | 0.978 | D | 0.707 | prob.neutral | N | 0.519061499 | None | None | N |
| F/W | 0.8511 | likely_pathogenic | 0.8893 | pathogenic | -0.607 | Destabilizing | 1.0 | D | 0.731 | prob.delet. | None | None | None | None | N |
| F/Y | 0.6291 | likely_pathogenic | 0.6741 | pathogenic | -0.865 | Destabilizing | 0.998 | D | 0.661 | neutral | D | 0.534727127 | 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.