Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 34205 | 102838;102839;102840 | chr2:178534002;178534001;178534000 | chr2:179398729;179398728;179398727 |
| N2AB | 32564 | 97915;97916;97917 | chr2:178534002;178534001;178534000 | chr2:179398729;179398728;179398727 |
| N2A | 31637 | 95134;95135;95136 | chr2:178534002;178534001;178534000 | chr2:179398729;179398728;179398727 |
| N2B | 25140 | 75643;75644;75645 | chr2:178534002;178534001;178534000 | chr2:179398729;179398728;179398727 |
| Novex-1 | 25265 | 76018;76019;76020 | chr2:178534002;178534001;178534000 | chr2:179398729;179398728;179398727 |
| Novex-2 | 25332 | 76219;76220;76221 | chr2:178534002;178534001;178534000 | chr2:179398729;179398728;179398727 |
| 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 | rs367926247  |
-0.81 | 1.0 | D | 0.839 | 0.8 | None | gnomAD-2.1.1 | 6.06E-05 | None | None | None | None | I | None | 1.23967E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.09104E-04 | 0 |
| G/D | rs367926247 |
-0.81 | 1.0 | D | 0.839 | 0.8 | None | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 4.41E-05 | 0 | 0 |
| G/D | rs367926247 |
-0.81 | 1.0 | D | 0.839 | 0.8 | None | gnomAD-4.0.0 | 7.80745E-05 | None | None | None | None | I | None | 1.33444E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 1.05096E-04 | 0 | 1.60092E-05 |
| G/S | None | None | 1.0 | D | 0.839 | 0.826 | 0.5430319 | gnomAD-4.0.0 | 1.59103E-06 | None | None | None | None | I | None | 5.65355E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.8567 | likely_pathogenic | 0.8758 | pathogenic | -0.161 | Destabilizing | 1.0 | D | 0.748 | deleterious | D | 0.5724559 | None | None | I |
| G/C | 0.9762 | likely_pathogenic | 0.9814 | pathogenic | -0.153 | Destabilizing | 1.0 | D | 0.789 | deleterious | D | 0.59818965 | None | None | I |
| G/D | 0.9838 | likely_pathogenic | 0.9894 | pathogenic | -0.673 | Destabilizing | 1.0 | D | 0.839 | deleterious | D | 0.5722479 | None | None | I |
| G/E | 0.989 | likely_pathogenic | 0.9921 | pathogenic | -0.554 | Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | I |
| G/F | 0.9964 | likely_pathogenic | 0.9969 | pathogenic | -0.342 | Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | I |
| G/H | 0.9957 | likely_pathogenic | 0.9968 | pathogenic | -1.278 | Destabilizing | 1.0 | D | 0.75 | deleterious | None | None | None | None | I |
| G/I | 0.9945 | likely_pathogenic | 0.9956 | pathogenic | 0.764 | Stabilizing | 1.0 | D | 0.816 | deleterious | None | None | None | None | I |
| G/K | 0.9928 | likely_pathogenic | 0.9942 | pathogenic | -0.363 | Destabilizing | 1.0 | D | 0.846 | deleterious | None | None | None | None | I |
| G/L | 0.9951 | likely_pathogenic | 0.9959 | pathogenic | 0.764 | Stabilizing | 1.0 | D | 0.814 | deleterious | None | None | None | None | I |
| G/M | 0.9958 | likely_pathogenic | 0.9967 | pathogenic | 0.595 | Stabilizing | 1.0 | D | 0.784 | deleterious | None | None | None | None | I |
| G/N | 0.9877 | likely_pathogenic | 0.9907 | pathogenic | -0.398 | Destabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | None | I |
| G/P | 0.9997 | likely_pathogenic | 0.9997 | pathogenic | 0.502 | Stabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | I |
| G/Q | 0.9899 | likely_pathogenic | 0.992 | pathogenic | -0.253 | Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | I |
| G/R | 0.9801 | likely_pathogenic | 0.9837 | pathogenic | -0.605 | Destabilizing | 1.0 | D | 0.841 | deleterious | D | 0.59798783 | None | None | I |
| G/S | 0.8403 | likely_pathogenic | 0.8699 | pathogenic | -0.787 | Destabilizing | 1.0 | D | 0.839 | deleterious | D | 0.56531334 | None | None | I |
| G/T | 0.9793 | likely_pathogenic | 0.9829 | pathogenic | -0.541 | Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | I |
| G/V | 0.9888 | likely_pathogenic | 0.9909 | pathogenic | 0.502 | Stabilizing | 1.0 | D | 0.826 | deleterious | D | 0.59818965 | None | None | I |
| G/W | 0.995 | likely_pathogenic | 0.996 | pathogenic | -1.089 | Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | I |
| G/Y | 0.9959 | likely_pathogenic | 0.9967 | pathogenic | -0.39 | Destabilizing | 1.0 | D | 0.794 | 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.