Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 24304 | 73135;73136;73137 | chr2:178573222;178573221;178573220 | chr2:179437949;179437948;179437947 |
| N2AB | 22663 | 68212;68213;68214 | chr2:178573222;178573221;178573220 | chr2:179437949;179437948;179437947 |
| N2A | 21736 | 65431;65432;65433 | chr2:178573222;178573221;178573220 | chr2:179437949;179437948;179437947 |
| N2B | 15239 | 45940;45941;45942 | chr2:178573222;178573221;178573220 | chr2:179437949;179437948;179437947 |
| Novex-1 | 15364 | 46315;46316;46317 | chr2:178573222;178573221;178573220 | chr2:179437949;179437948;179437947 |
| Novex-2 | 15431 | 46516;46517;46518 | chr2:178573222;178573221;178573220 | chr2:179437949;179437948;179437947 |
| 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 | rs375958762  |
-1.182 | 1.0 | D | 0.913 | 0.642 | None | gnomAD-4.0.0 | 6.87582E-07 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.03058E-07 | 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 | 0.8272 | likely_pathogenic | 0.7859 | pathogenic | -0.622 | Destabilizing | 1.0 | D | 0.763 | deleterious | D | 0.568962811 | None | None | I |
| G/C | 0.9293 | likely_pathogenic | 0.9127 | pathogenic | -0.888 | Destabilizing | 1.0 | D | 0.879 | deleterious | None | None | None | None | I |
| G/D | 0.9483 | likely_pathogenic | 0.9351 | pathogenic | -1.066 | Destabilizing | 1.0 | D | 0.921 | deleterious | None | None | None | None | I |
| G/E | 0.9651 | likely_pathogenic | 0.9559 | pathogenic | -1.212 | Destabilizing | 1.0 | D | 0.913 | deleterious | D | 0.580319116 | None | None | I |
| G/F | 0.9905 | likely_pathogenic | 0.988 | pathogenic | -1.217 | Destabilizing | 1.0 | D | 0.899 | deleterious | None | None | None | None | I |
| G/H | 0.9824 | likely_pathogenic | 0.9772 | pathogenic | -0.971 | Destabilizing | 1.0 | D | 0.878 | deleterious | None | None | None | None | I |
| G/I | 0.9877 | likely_pathogenic | 0.985 | pathogenic | -0.596 | Destabilizing | 1.0 | D | 0.903 | deleterious | None | None | None | None | I |
| G/K | 0.9801 | likely_pathogenic | 0.9749 | pathogenic | -1.189 | Destabilizing | 1.0 | D | 0.912 | deleterious | None | None | None | None | I |
| G/L | 0.9829 | likely_pathogenic | 0.9781 | pathogenic | -0.596 | Destabilizing | 1.0 | D | 0.886 | deleterious | None | None | None | None | I |
| G/M | 0.988 | likely_pathogenic | 0.985 | pathogenic | -0.443 | Destabilizing | 1.0 | D | 0.877 | deleterious | None | None | None | None | I |
| G/N | 0.9557 | likely_pathogenic | 0.9438 | pathogenic | -0.764 | Destabilizing | 1.0 | D | 0.86 | deleterious | None | None | None | None | I |
| G/P | 0.9984 | likely_pathogenic | 0.998 | pathogenic | -0.569 | Destabilizing | 1.0 | D | 0.911 | deleterious | None | None | None | None | I |
| G/Q | 0.9669 | likely_pathogenic | 0.9585 | pathogenic | -1.085 | Destabilizing | 1.0 | D | 0.92 | deleterious | None | None | None | None | I |
| G/R | 0.9501 | likely_pathogenic | 0.9377 | pathogenic | -0.677 | Destabilizing | 1.0 | D | 0.921 | deleterious | D | 0.5692163 | None | None | I |
| G/S | 0.6911 | likely_pathogenic | 0.6474 | pathogenic | -0.913 | Destabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | I |
| G/T | 0.9341 | likely_pathogenic | 0.9227 | pathogenic | -1.0 | Destabilizing | 1.0 | D | 0.912 | deleterious | None | None | None | None | I |
| G/V | 0.9711 | likely_pathogenic | 0.965 | pathogenic | -0.569 | Destabilizing | 1.0 | D | 0.897 | deleterious | D | 0.580826095 | None | None | I |
| G/W | 0.9831 | likely_pathogenic | 0.9785 | pathogenic | -1.4 | Destabilizing | 1.0 | D | 0.885 | deleterious | None | None | None | None | I |
| G/Y | 0.9826 | likely_pathogenic | 0.9787 | pathogenic | -1.067 | Destabilizing | 1.0 | D | 0.899 | 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.