Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 30200 | 90823;90824;90825 | chr2:178552302;178552301;178552300 | chr2:179417029;179417028;179417027 |
| N2AB | 28559 | 85900;85901;85902 | chr2:178552302;178552301;178552300 | chr2:179417029;179417028;179417027 |
| N2A | 27632 | 83119;83120;83121 | chr2:178552302;178552301;178552300 | chr2:179417029;179417028;179417027 |
| N2B | 21135 | 63628;63629;63630 | chr2:178552302;178552301;178552300 | chr2:179417029;179417028;179417027 |
| Novex-1 | 21260 | 64003;64004;64005 | chr2:178552302;178552301;178552300 | chr2:179417029;179417028;179417027 |
| Novex-2 | 21327 | 64204;64205;64206 | chr2:178552302;178552301;178552300 | chr2:179417029;179417028;179417027 |
| 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 | None | None | 1.0 | D | 0.827 | 0.64 | 0.747829085257 | gnomAD-4.0.0 | 1.20033E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.31251E-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 | 0.5673 | likely_pathogenic | 0.5819 | pathogenic | -0.615 | Destabilizing | 1.0 | D | 0.743 | deleterious | D | 0.574933896 | None | None | I |
| G/C | 0.79 | likely_pathogenic | 0.8037 | pathogenic | -0.893 | Destabilizing | 1.0 | D | 0.761 | deleterious | None | None | None | None | I |
| G/D | 0.8567 | likely_pathogenic | 0.8705 | pathogenic | -0.666 | Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | I |
| G/E | 0.9256 | likely_pathogenic | 0.9256 | pathogenic | -0.742 | Destabilizing | 1.0 | D | 0.827 | deleterious | D | 0.612583854 | None | None | I |
| G/F | 0.9829 | likely_pathogenic | 0.9806 | pathogenic | -1.026 | Destabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | I |
| G/H | 0.9722 | likely_pathogenic | 0.9715 | pathogenic | -1.145 | Destabilizing | 1.0 | D | 0.734 | prob.delet. | None | None | None | None | I |
| G/I | 0.9768 | likely_pathogenic | 0.9751 | pathogenic | -0.31 | Destabilizing | 1.0 | D | 0.8 | deleterious | None | None | None | None | I |
| G/K | 0.9715 | likely_pathogenic | 0.9699 | pathogenic | -1.041 | Destabilizing | 1.0 | D | 0.826 | deleterious | None | None | None | None | I |
| G/L | 0.9674 | likely_pathogenic | 0.9697 | pathogenic | -0.31 | Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | I |
| G/M | 0.971 | likely_pathogenic | 0.9728 | pathogenic | -0.275 | Destabilizing | 1.0 | D | 0.759 | deleterious | None | None | None | None | I |
| G/N | 0.8999 | likely_pathogenic | 0.9035 | pathogenic | -0.706 | Destabilizing | 1.0 | D | 0.84 | deleterious | None | None | None | None | I |
| G/P | 0.9981 | likely_pathogenic | 0.9977 | pathogenic | -0.371 | Destabilizing | 1.0 | D | 0.812 | deleterious | None | None | None | None | I |
| G/Q | 0.9266 | likely_pathogenic | 0.9241 | pathogenic | -0.882 | Destabilizing | 1.0 | D | 0.816 | deleterious | None | None | None | None | I |
| G/R | 0.9398 | likely_pathogenic | 0.9344 | pathogenic | -0.753 | Destabilizing | 1.0 | D | 0.823 | deleterious | D | 0.628633575 | None | None | I |
| G/S | 0.471 | ambiguous | 0.4648 | ambiguous | -1.018 | Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | I |
| G/T | 0.8848 | likely_pathogenic | 0.8755 | pathogenic | -1.003 | Destabilizing | 1.0 | D | 0.828 | deleterious | None | None | None | None | I |
| G/V | 0.9504 | likely_pathogenic | 0.9465 | pathogenic | -0.371 | Destabilizing | 1.0 | D | 0.805 | deleterious | D | 0.628835379 | None | None | I |
| G/W | 0.9731 | likely_pathogenic | 0.9677 | pathogenic | -1.333 | Destabilizing | 1.0 | D | 0.767 | deleterious | None | None | None | None | I |
| G/Y | 0.9768 | likely_pathogenic | 0.9747 | pathogenic | -0.916 | Destabilizing | 1.0 | D | 0.787 | 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.