Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 25034 | 75325;75326;75327 | chr2:178571032;178571031;178571030 | chr2:179435759;179435758;179435757 |
| N2AB | 23393 | 70402;70403;70404 | chr2:178571032;178571031;178571030 | chr2:179435759;179435758;179435757 |
| N2A | 22466 | 67621;67622;67623 | chr2:178571032;178571031;178571030 | chr2:179435759;179435758;179435757 |
| N2B | 15969 | 48130;48131;48132 | chr2:178571032;178571031;178571030 | chr2:179435759;179435758;179435757 |
| Novex-1 | 16094 | 48505;48506;48507 | chr2:178571032;178571031;178571030 | chr2:179435759;179435758;179435757 |
| Novex-2 | 16161 | 48706;48707;48708 | chr2:178571032;178571031;178571030 | chr2:179435759;179435758;179435757 |
| 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/S | rs781442397  |
-0.785 | 1.0 | N | 0.803 | 0.518 | None | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 3.28E-05 | None | 0 | 1.78E-05 | 0 |
| G/S | rs781442397 |
-0.785 | 1.0 | N | 0.803 | 0.518 | None | gnomAD-4.0.0 | 3.42487E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 2.52169E-05 | None | 0 | 0 | 2.70152E-06 | 1.16023E-05 | 0 |
| G/V | rs755501933 |
-0.512 | 1.0 | N | 0.783 | 0.546 | 0.543866918096 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.91E-06 | 0 |
| G/V | rs755501933 |
-0.512 | 1.0 | N | 0.783 | 0.546 | 0.543866918096 | gnomAD-4.0.0 | 1.59432E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86597E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.9014 | likely_pathogenic | 0.915 | pathogenic | -0.544 | Destabilizing | 1.0 | D | 0.725 | prob.delet. | N | 0.512823398 | None | None | I |
| G/C | 0.9689 | likely_pathogenic | 0.9715 | pathogenic | -0.859 | Destabilizing | 1.0 | D | 0.763 | deleterious | D | 0.532195101 | None | None | I |
| G/D | 0.9946 | likely_pathogenic | 0.9939 | pathogenic | -0.576 | Destabilizing | 1.0 | D | 0.837 | deleterious | N | 0.514936539 | None | None | I |
| G/E | 0.9963 | likely_pathogenic | 0.9961 | pathogenic | -0.71 | Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | I |
| G/F | 0.9972 | likely_pathogenic | 0.9973 | pathogenic | -1.154 | Destabilizing | 1.0 | D | 0.761 | deleterious | None | None | None | None | I |
| G/H | 0.9967 | likely_pathogenic | 0.9966 | pathogenic | -0.901 | Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | I |
| G/I | 0.9968 | likely_pathogenic | 0.9968 | pathogenic | -0.483 | Destabilizing | 1.0 | D | 0.765 | deleterious | None | None | None | None | I |
| G/K | 0.996 | likely_pathogenic | 0.9958 | pathogenic | -0.914 | Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | I |
| G/L | 0.9955 | likely_pathogenic | 0.996 | pathogenic | -0.483 | Destabilizing | 1.0 | D | 0.771 | deleterious | None | None | None | None | I |
| G/M | 0.9976 | likely_pathogenic | 0.9976 | pathogenic | -0.356 | Destabilizing | 1.0 | D | 0.765 | deleterious | None | None | None | None | I |
| G/N | 0.9932 | likely_pathogenic | 0.9936 | pathogenic | -0.507 | Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | I |
| G/P | 0.9994 | likely_pathogenic | 0.9994 | pathogenic | -0.467 | Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | I |
| G/Q | 0.995 | likely_pathogenic | 0.9948 | pathogenic | -0.778 | Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | I |
| G/R | 0.983 | likely_pathogenic | 0.9828 | pathogenic | -0.513 | Destabilizing | 1.0 | D | 0.814 | deleterious | N | 0.488287135 | None | None | I |
| G/S | 0.899 | likely_pathogenic | 0.899 | pathogenic | -0.757 | Destabilizing | 1.0 | D | 0.803 | deleterious | N | 0.501680902 | None | None | I |
| G/T | 0.9879 | likely_pathogenic | 0.9872 | pathogenic | -0.812 | Destabilizing | 1.0 | D | 0.834 | deleterious | None | None | None | None | I |
| G/V | 0.9934 | likely_pathogenic | 0.9932 | pathogenic | -0.467 | Destabilizing | 1.0 | D | 0.783 | deleterious | N | 0.516964455 | None | None | I |
| G/W | 0.9938 | likely_pathogenic | 0.9941 | pathogenic | -1.339 | Destabilizing | 1.0 | D | 0.784 | deleterious | None | None | None | None | I |
| G/Y | 0.9961 | likely_pathogenic | 0.9959 | pathogenic | -0.978 | Destabilizing | 1.0 | D | 0.759 | 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.