Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 6483 | 19672;19673;19674 | chr2:178728377;178728376;178728375 | chr2:179593104;179593103;179593102 |
| N2AB | 6166 | 18721;18722;18723 | chr2:178728377;178728376;178728375 | chr2:179593104;179593103;179593102 |
| N2A | 5239 | 15940;15941;15942 | chr2:178728377;178728376;178728375 | chr2:179593104;179593103;179593102 |
| 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 | rs373750655  |
-2.273 | 0.999 | D | 0.677 | 0.696 | 0.440498838766 | gnomAD-2.1.1 | 2.58E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 5.68E-05 | 0 |
| F/L | rs373750655 |
-2.273 | 0.999 | D | 0.677 | 0.696 | 0.440498838766 | 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 | rs373750655 |
-2.273 | 0.999 | D | 0.677 | 0.696 | 0.440498838766 | gnomAD-4.0.0 | 3.81018E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.02366E-05 | 0 | 3.23269E-05 |
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 | 0.9914 | likely_pathogenic | 0.9844 | pathogenic | -2.677 | Highly Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | N |
| F/C | 0.9556 | likely_pathogenic | 0.9342 | pathogenic | -1.731 | Destabilizing | 1.0 | D | 0.821 | deleterious | D | 0.569049532 | None | None | N |
| F/D | 0.999 | likely_pathogenic | 0.998 | pathogenic | -2.545 | Highly Destabilizing | 1.0 | D | 0.84 | deleterious | None | None | None | None | N |
| F/E | 0.999 | likely_pathogenic | 0.9979 | pathogenic | -2.477 | Highly Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | N |
| F/G | 0.997 | likely_pathogenic | 0.9951 | pathogenic | -3.006 | Highly Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | N |
| F/H | 0.9889 | likely_pathogenic | 0.9842 | pathogenic | -1.329 | Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | N |
| F/I | 0.7216 | likely_pathogenic | 0.634 | pathogenic | -1.658 | Destabilizing | 1.0 | D | 0.789 | deleterious | N | 0.503484778 | None | None | N |
| F/K | 0.9984 | likely_pathogenic | 0.9966 | pathogenic | -1.448 | Destabilizing | 1.0 | D | 0.842 | deleterious | None | None | None | None | N |
| F/L | 0.9759 | likely_pathogenic | 0.9676 | pathogenic | -1.658 | Destabilizing | 0.999 | D | 0.677 | prob.neutral | D | 0.52903868 | None | None | N |
| F/M | 0.9154 | likely_pathogenic | 0.8909 | pathogenic | -1.422 | Destabilizing | 1.0 | D | 0.787 | deleterious | None | None | None | None | N |
| F/N | 0.9947 | likely_pathogenic | 0.9913 | pathogenic | -1.517 | Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | N |
| F/P | 0.9987 | likely_pathogenic | 0.9977 | pathogenic | -1.997 | Destabilizing | 1.0 | D | 0.848 | deleterious | None | None | None | None | N |
| F/Q | 0.9976 | likely_pathogenic | 0.9952 | pathogenic | -1.756 | Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | N |
| F/R | 0.9953 | likely_pathogenic | 0.9908 | pathogenic | -0.643 | Destabilizing | 1.0 | D | 0.846 | deleterious | None | None | None | None | N |
| F/S | 0.9909 | likely_pathogenic | 0.9832 | pathogenic | -2.226 | Highly Destabilizing | 1.0 | D | 0.835 | deleterious | D | 0.568542553 | None | None | N |
| F/T | 0.9928 | likely_pathogenic | 0.9867 | pathogenic | -2.061 | Highly Destabilizing | 1.0 | D | 0.832 | deleterious | None | None | None | None | N |
| F/V | 0.7774 | likely_pathogenic | 0.6937 | pathogenic | -1.997 | Destabilizing | 1.0 | D | 0.779 | deleterious | D | 0.532557399 | None | None | N |
| F/W | 0.9334 | likely_pathogenic | 0.9176 | pathogenic | -0.84 | Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | N |
| F/Y | 0.7041 | likely_pathogenic | 0.6773 | pathogenic | -1.015 | Destabilizing | 0.999 | D | 0.648 | neutral | D | 0.550691788 | 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.