Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 28819 | 86680;86681;86682 | chr2:178559677;178559676;178559675 | chr2:179424404;179424403;179424402 |
| N2AB | 27178 | 81757;81758;81759 | chr2:178559677;178559676;178559675 | chr2:179424404;179424403;179424402 |
| N2A | 26251 | 78976;78977;78978 | chr2:178559677;178559676;178559675 | chr2:179424404;179424403;179424402 |
| N2B | 19754 | 59485;59486;59487 | chr2:178559677;178559676;178559675 | chr2:179424404;179424403;179424402 |
| Novex-1 | 19879 | 59860;59861;59862 | chr2:178559677;178559676;178559675 | chr2:179424404;179424403;179424402 |
| Novex-2 | 19946 | 60061;60062;60063 | chr2:178559677;178559676;178559675 | chr2:179424404;179424403;179424402 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/Y | None | None | 1.0 | D | 0.855 | 0.784 | 0.920955482883 | gnomAD-4.0.0 | 3.19552E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.73658E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.9877 | likely_pathogenic | 0.9896 | pathogenic | 0.199 | Stabilizing | 1.0 | D | 0.845 | deleterious | D | 0.639693526 | None | None | N |
| D/C | 0.9935 | likely_pathogenic | 0.9936 | pathogenic | 0.203 | Stabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | N |
| D/E | 0.9682 | likely_pathogenic | 0.9689 | pathogenic | -0.739 | Destabilizing | 1.0 | D | 0.622 | neutral | D | 0.606211814 | None | None | N |
| D/F | 0.9969 | likely_pathogenic | 0.9967 | pathogenic | 0.563 | Stabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | N |
| D/G | 0.9906 | likely_pathogenic | 0.9917 | pathogenic | -0.28 | Destabilizing | 1.0 | D | 0.799 | deleterious | D | 0.63989533 | None | None | N |
| D/H | 0.9696 | likely_pathogenic | 0.9674 | pathogenic | 0.145 | Stabilizing | 1.0 | D | 0.823 | deleterious | D | 0.582288136 | None | None | N |
| D/I | 0.9955 | likely_pathogenic | 0.9955 | pathogenic | 1.497 | Stabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | N |
| D/K | 0.9969 | likely_pathogenic | 0.9967 | pathogenic | 0.022 | Stabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | N |
| D/L | 0.9955 | likely_pathogenic | 0.9952 | pathogenic | 1.497 | Stabilizing | 1.0 | D | 0.842 | deleterious | None | None | None | None | N |
| D/M | 0.9981 | likely_pathogenic | 0.9982 | pathogenic | 2.007 | Highly Stabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | None | N |
| D/N | 0.9131 | likely_pathogenic | 0.9256 | pathogenic | -0.746 | Destabilizing | 1.0 | D | 0.802 | deleterious | D | 0.605808205 | None | None | N |
| D/P | 0.9996 | likely_pathogenic | 0.9996 | pathogenic | 1.094 | Stabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | N |
| D/Q | 0.9944 | likely_pathogenic | 0.9946 | pathogenic | -0.347 | Destabilizing | 1.0 | D | 0.779 | deleterious | None | None | None | None | N |
| D/R | 0.997 | likely_pathogenic | 0.9966 | pathogenic | -0.131 | Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| D/S | 0.9674 | likely_pathogenic | 0.9711 | pathogenic | -1.104 | Destabilizing | 1.0 | D | 0.779 | deleterious | None | None | None | None | N |
| D/T | 0.9939 | likely_pathogenic | 0.9944 | pathogenic | -0.648 | Destabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | None | N |
| D/V | 0.9887 | likely_pathogenic | 0.9888 | pathogenic | 1.094 | Stabilizing | 1.0 | D | 0.848 | deleterious | D | 0.640298939 | None | None | N |
| D/W | 0.9994 | likely_pathogenic | 0.9994 | pathogenic | 0.463 | Stabilizing | 1.0 | D | 0.824 | deleterious | None | None | None | None | N |
| D/Y | 0.9729 | likely_pathogenic | 0.97 | pathogenic | 0.797 | Stabilizing | 1.0 | D | 0.855 | deleterious | D | 0.640097135 | 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.