Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33754 | 101485;101486;101487 | chr2:178535355;178535354;178535353 | chr2:179400082;179400081;179400080 |
| N2AB | 32113 | 96562;96563;96564 | chr2:178535355;178535354;178535353 | chr2:179400082;179400081;179400080 |
| N2A | 31186 | 93781;93782;93783 | chr2:178535355;178535354;178535353 | chr2:179400082;179400081;179400080 |
| N2B | 24689 | 74290;74291;74292 | chr2:178535355;178535354;178535353 | chr2:179400082;179400081;179400080 |
| Novex-1 | 24814 | 74665;74666;74667 | chr2:178535355;178535354;178535353 | chr2:179400082;179400081;179400080 |
| Novex-2 | 24881 | 74866;74867;74868 | chr2:178535355;178535354;178535353 | chr2:179400082;179400081;179400080 |
| 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/E | rs760939553  |
-1.235 | 1.0 | N | 0.825 | 0.523 | 0.293147016451 | gnomAD-2.1.1 | 8.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.11297E-04 | None | 0 | None | 0 | 0 | 0 |
| G/E | rs760939553 |
-1.235 | 1.0 | N | 0.825 | 0.523 | 0.293147016451 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 1.92456E-04 | None | 0 | 0 | 0 | 0 | 0 |
| G/E | rs760939553 |
-1.235 | 1.0 | N | 0.825 | 0.523 | 0.293147016451 | gnomAD-4.0.0 | 1.859E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 6.68241E-05 | 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 | 0.7249 | likely_pathogenic | 0.6548 | pathogenic | -0.816 | Destabilizing | 1.0 | D | 0.759 | deleterious | N | 0.390954635 | None | None | N |
| G/C | 0.9429 | likely_pathogenic | 0.9159 | pathogenic | -1.113 | Destabilizing | 1.0 | D | 0.778 | deleterious | None | None | None | None | N |
| G/D | 0.987 | likely_pathogenic | 0.975 | pathogenic | -1.397 | Destabilizing | 1.0 | D | 0.838 | deleterious | None | None | None | None | N |
| G/E | 0.9757 | likely_pathogenic | 0.9595 | pathogenic | -1.5 | Destabilizing | 1.0 | D | 0.825 | deleterious | N | 0.327097944 | None | None | N |
| G/F | 0.9942 | likely_pathogenic | 0.992 | pathogenic | -1.378 | Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | N |
| G/H | 0.992 | likely_pathogenic | 0.9875 | pathogenic | -1.239 | Destabilizing | 1.0 | D | 0.773 | deleterious | None | None | None | None | N |
| G/I | 0.9915 | likely_pathogenic | 0.9881 | pathogenic | -0.629 | Destabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | N |
| G/K | 0.9934 | likely_pathogenic | 0.9906 | pathogenic | -1.218 | Destabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | N |
| G/L | 0.9889 | likely_pathogenic | 0.9839 | pathogenic | -0.629 | Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | N |
| G/M | 0.9953 | likely_pathogenic | 0.9932 | pathogenic | -0.461 | Destabilizing | 1.0 | D | 0.773 | deleterious | None | None | None | None | N |
| G/N | 0.9811 | likely_pathogenic | 0.969 | pathogenic | -0.917 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | N |
| G/P | 0.9705 | likely_pathogenic | 0.9583 | pathogenic | -0.654 | Destabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | N |
| G/Q | 0.9749 | likely_pathogenic | 0.9654 | pathogenic | -1.208 | Destabilizing | 1.0 | D | 0.838 | deleterious | None | None | None | None | N |
| G/R | 0.978 | likely_pathogenic | 0.9658 | pathogenic | -0.793 | Destabilizing | 1.0 | D | 0.84 | deleterious | N | 0.46674326 | None | None | N |
| G/S | 0.6641 | likely_pathogenic | 0.5748 | pathogenic | -1.125 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | N |
| G/T | 0.9534 | likely_pathogenic | 0.9352 | pathogenic | -1.16 | Destabilizing | 1.0 | D | 0.824 | deleterious | None | None | None | None | N |
| G/V | 0.981 | likely_pathogenic | 0.9711 | pathogenic | -0.654 | Destabilizing | 1.0 | D | 0.807 | deleterious | N | 0.439711374 | None | None | N |
| G/W | 0.9849 | likely_pathogenic | 0.9781 | pathogenic | -1.605 | Destabilizing | 1.0 | D | 0.78 | deleterious | None | None | None | None | N |
| G/Y | 0.9929 | likely_pathogenic | 0.9889 | pathogenic | -1.237 | Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | 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.