Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 19017 | 57274;57275;57276 | chr2:178598568;178598567;178598566 | chr2:179463295;179463294;179463293 |
| N2AB | 17376 | 52351;52352;52353 | chr2:178598568;178598567;178598566 | chr2:179463295;179463294;179463293 |
| N2A | 16449 | 49570;49571;49572 | chr2:178598568;178598567;178598566 | chr2:179463295;179463294;179463293 |
| N2B | 9952 | 30079;30080;30081 | chr2:178598568;178598567;178598566 | chr2:179463295;179463294;179463293 |
| Novex-1 | 10077 | 30454;30455;30456 | chr2:178598568;178598567;178598566 | chr2:179463295;179463294;179463293 |
| Novex-2 | 10144 | 30655;30656;30657 | chr2:178598568;178598567;178598566 | chr2:179463295;179463294;179463293 |
| 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/R | rs771034764  |
-0.055 | 1.0 | N | 0.815 | 0.528 | 0.603901604079 | gnomAD-2.1.1 | 8.25E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.8E-05 | 0 |
| G/R | rs771034764 |
-0.055 | 1.0 | N | 0.815 | 0.528 | 0.603901604079 | gnomAD-4.0.0 | 1.99204E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.61145E-05 | 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 | 0.8583 | likely_pathogenic | 0.765 | pathogenic | -0.12 | Destabilizing | 1.0 | D | 0.633 | neutral | N | 0.477350401 | None | None | I |
| G/C | 0.9024 | likely_pathogenic | 0.7979 | pathogenic | -0.829 | Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | I |
| G/D | 0.935 | likely_pathogenic | 0.8542 | pathogenic | -0.418 | Destabilizing | 1.0 | D | 0.714 | prob.delet. | None | None | None | None | I |
| G/E | 0.9701 | likely_pathogenic | 0.9212 | pathogenic | -0.576 | Destabilizing | 1.0 | D | 0.806 | deleterious | N | 0.511877071 | None | None | I |
| G/F | 0.9799 | likely_pathogenic | 0.9635 | pathogenic | -0.928 | Destabilizing | 1.0 | D | 0.798 | deleterious | None | None | None | None | I |
| G/H | 0.974 | likely_pathogenic | 0.9316 | pathogenic | -0.272 | Destabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | I |
| G/I | 0.9769 | likely_pathogenic | 0.9561 | pathogenic | -0.391 | Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | I |
| G/K | 0.9773 | likely_pathogenic | 0.9264 | pathogenic | -0.413 | Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | I |
| G/L | 0.971 | likely_pathogenic | 0.9498 | pathogenic | -0.391 | Destabilizing | 1.0 | D | 0.818 | deleterious | None | None | None | None | I |
| G/M | 0.9831 | likely_pathogenic | 0.9665 | pathogenic | -0.444 | Destabilizing | 1.0 | D | 0.8 | deleterious | None | None | None | None | I |
| G/N | 0.9179 | likely_pathogenic | 0.8285 | pathogenic | -0.175 | Destabilizing | 1.0 | D | 0.7 | prob.neutral | None | None | None | None | I |
| G/P | 0.9963 | likely_pathogenic | 0.9948 | pathogenic | -0.276 | Destabilizing | 1.0 | D | 0.814 | deleterious | None | None | None | None | I |
| G/Q | 0.9615 | likely_pathogenic | 0.8954 | pathogenic | -0.436 | Destabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | I |
| G/R | 0.9447 | likely_pathogenic | 0.8439 | pathogenic | -0.056 | Destabilizing | 1.0 | D | 0.815 | deleterious | N | 0.494342247 | None | None | I |
| G/S | 0.7177 | likely_pathogenic | 0.5262 | ambiguous | -0.308 | Destabilizing | 1.0 | D | 0.713 | prob.delet. | None | None | None | None | I |
| G/T | 0.9445 | likely_pathogenic | 0.8818 | pathogenic | -0.4 | Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | I |
| G/V | 0.9684 | likely_pathogenic | 0.9386 | pathogenic | -0.276 | Destabilizing | 1.0 | D | 0.806 | deleterious | D | 0.531943109 | None | None | I |
| G/W | 0.9716 | likely_pathogenic | 0.9474 | pathogenic | -1.04 | Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | I |
| G/Y | 0.9702 | likely_pathogenic | 0.9393 | pathogenic | -0.705 | Destabilizing | 1.0 | D | 0.79 | 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.