Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 25286 | 76081;76082;76083 | chr2:178570276;178570275;178570274 | chr2:179435003;179435002;179435001 |
| N2AB | 23645 | 71158;71159;71160 | chr2:178570276;178570275;178570274 | chr2:179435003;179435002;179435001 |
| N2A | 22718 | 68377;68378;68379 | chr2:178570276;178570275;178570274 | chr2:179435003;179435002;179435001 |
| N2B | 16221 | 48886;48887;48888 | chr2:178570276;178570275;178570274 | chr2:179435003;179435002;179435001 |
| Novex-1 | 16346 | 49261;49262;49263 | chr2:178570276;178570275;178570274 | chr2:179435003;179435002;179435001 |
| Novex-2 | 16413 | 49462;49463;49464 | chr2:178570276;178570275;178570274 | chr2:179435003;179435002;179435001 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/D | rs780183753  |
-0.554 | 1.0 | D | 0.913 | 0.704 | 0.541512316009 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.92E-06 | 0 |
| G/D | rs780183753 |
-0.554 | 1.0 | D | 0.913 | 0.704 | 0.541512316009 | gnomAD-4.0.0 | 3.1843E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 2.41313E-04 | 2.85932E-06 | 0 | 0 |
| G/S | None | None | 1.0 | D | 0.853 | 0.73 | 0.48300943003 | gnomAD-4.0.0 | 1.59218E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43287E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.8634 | likely_pathogenic | 0.8645 | pathogenic | -0.669 | Destabilizing | 1.0 | D | 0.75 | deleterious | D | 0.549952594 | None | None | I |
| G/C | 0.9477 | likely_pathogenic | 0.951 | pathogenic | -1.025 | Destabilizing | 1.0 | D | 0.866 | deleterious | D | 0.569324297 | None | None | I |
| G/D | 0.9708 | likely_pathogenic | 0.9753 | pathogenic | -1.091 | Destabilizing | 1.0 | D | 0.913 | deleterious | D | 0.550713063 | None | None | I |
| G/E | 0.9869 | likely_pathogenic | 0.9877 | pathogenic | -1.205 | Destabilizing | 1.0 | D | 0.905 | deleterious | None | None | None | None | I |
| G/F | 0.9941 | likely_pathogenic | 0.9943 | pathogenic | -1.103 | Destabilizing | 1.0 | D | 0.889 | deleterious | None | None | None | None | I |
| G/H | 0.9882 | likely_pathogenic | 0.9904 | pathogenic | -1.019 | Destabilizing | 1.0 | D | 0.872 | deleterious | None | None | None | None | I |
| G/I | 0.9917 | likely_pathogenic | 0.9927 | pathogenic | -0.556 | Destabilizing | 1.0 | D | 0.892 | deleterious | None | None | None | None | I |
| G/K | 0.9901 | likely_pathogenic | 0.992 | pathogenic | -1.31 | Destabilizing | 1.0 | D | 0.905 | deleterious | None | None | None | None | I |
| G/L | 0.9888 | likely_pathogenic | 0.9903 | pathogenic | -0.556 | Destabilizing | 1.0 | D | 0.869 | deleterious | None | None | None | None | I |
| G/M | 0.9941 | likely_pathogenic | 0.9948 | pathogenic | -0.532 | Destabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | I |
| G/N | 0.9776 | likely_pathogenic | 0.9828 | pathogenic | -0.989 | Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | I |
| G/P | 0.9988 | likely_pathogenic | 0.999 | pathogenic | -0.556 | Destabilizing | 1.0 | D | 0.907 | deleterious | None | None | None | None | I |
| G/Q | 0.9807 | likely_pathogenic | 0.9834 | pathogenic | -1.252 | Destabilizing | 1.0 | D | 0.916 | deleterious | None | None | None | None | I |
| G/R | 0.9627 | likely_pathogenic | 0.9677 | pathogenic | -0.828 | Destabilizing | 1.0 | D | 0.919 | deleterious | D | 0.557207523 | None | None | I |
| G/S | 0.7818 | likely_pathogenic | 0.7941 | pathogenic | -1.162 | Destabilizing | 1.0 | D | 0.853 | deleterious | D | 0.544926165 | None | None | I |
| G/T | 0.9653 | likely_pathogenic | 0.9705 | pathogenic | -1.21 | Destabilizing | 1.0 | D | 0.904 | deleterious | None | None | None | None | I |
| G/V | 0.9839 | likely_pathogenic | 0.9848 | pathogenic | -0.556 | Destabilizing | 1.0 | D | 0.881 | deleterious | D | 0.541558803 | None | None | I |
| G/W | 0.9864 | likely_pathogenic | 0.9886 | pathogenic | -1.33 | Destabilizing | 1.0 | D | 0.881 | deleterious | None | None | None | None | I |
| G/Y | 0.9898 | likely_pathogenic | 0.9909 | pathogenic | -0.987 | Destabilizing | 1.0 | D | 0.888 | deleterious | None | None | None | None | I |
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.