Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 31003 | 93232;93233;93234 | chr2:178548619;178548618;178548617 | chr2:179413346;179413345;179413344 |
| N2AB | 29362 | 88309;88310;88311 | chr2:178548619;178548618;178548617 | chr2:179413346;179413345;179413344 |
| N2A | 28435 | 85528;85529;85530 | chr2:178548619;178548618;178548617 | chr2:179413346;179413345;179413344 |
| N2B | 21938 | 66037;66038;66039 | chr2:178548619;178548618;178548617 | chr2:179413346;179413345;179413344 |
| Novex-1 | 22063 | 66412;66413;66414 | chr2:178548619;178548618;178548617 | chr2:179413346;179413345;179413344 |
| Novex-2 | 22130 | 66613;66614;66615 | chr2:178548619;178548618;178548617 | chr2:179413346;179413345;179413344 |
| 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/A | rs1698144956  |
None | 1.0 | D | 0.755 | 0.795 | 0.536709800451 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| G/A | rs1698144956 |
None | 1.0 | D | 0.755 | 0.795 | 0.536709800451 | gnomAD-4.0.0 | 2.47872E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.69519E-06 | 0 | 3.20205E-05 |
| G/S | rs765552665 |
0.007 | 1.0 | D | 0.817 | 0.755 | 0.476676017676 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-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 | 0.5054 | ambiguous | 0.474 | ambiguous | -0.119 | Destabilizing | 1.0 | D | 0.755 | deleterious | D | 0.609658589 | None | None | I |
| G/C | 0.7089 | likely_pathogenic | 0.6709 | pathogenic | -0.767 | Destabilizing | 1.0 | D | 0.841 | deleterious | D | 0.626888776 | None | None | I |
| G/D | 0.8181 | likely_pathogenic | 0.7933 | pathogenic | -0.481 | Destabilizing | 1.0 | D | 0.868 | deleterious | D | 0.567465343 | None | None | I |
| G/E | 0.8723 | likely_pathogenic | 0.853 | pathogenic | -0.649 | Destabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | I |
| G/F | 0.9562 | likely_pathogenic | 0.9481 | pathogenic | -0.987 | Destabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | I |
| G/H | 0.915 | likely_pathogenic | 0.8926 | pathogenic | -0.34 | Destabilizing | 1.0 | D | 0.852 | deleterious | None | None | None | None | I |
| G/I | 0.9141 | likely_pathogenic | 0.904 | pathogenic | -0.393 | Destabilizing | 1.0 | D | 0.868 | deleterious | None | None | None | None | I |
| G/K | 0.9091 | likely_pathogenic | 0.8886 | pathogenic | -0.476 | Destabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | I |
| G/L | 0.9132 | likely_pathogenic | 0.9039 | pathogenic | -0.393 | Destabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | I |
| G/M | 0.938 | likely_pathogenic | 0.9265 | pathogenic | -0.411 | Destabilizing | 1.0 | D | 0.842 | deleterious | None | None | None | None | I |
| G/N | 0.8075 | likely_pathogenic | 0.7798 | pathogenic | -0.167 | Destabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | I |
| G/P | 0.9942 | likely_pathogenic | 0.9937 | pathogenic | -0.276 | Destabilizing | 1.0 | D | 0.888 | deleterious | None | None | None | None | I |
| G/Q | 0.851 | likely_pathogenic | 0.8231 | pathogenic | -0.452 | Destabilizing | 1.0 | D | 0.887 | deleterious | None | None | None | None | I |
| G/R | 0.8123 | likely_pathogenic | 0.7777 | pathogenic | -0.096 | Destabilizing | 1.0 | D | 0.89 | deleterious | D | 0.625879754 | None | None | I |
| G/S | 0.3465 | ambiguous | 0.3156 | benign | -0.279 | Destabilizing | 1.0 | D | 0.817 | deleterious | D | 0.583515065 | None | None | I |
| G/T | 0.7313 | likely_pathogenic | 0.7059 | pathogenic | -0.385 | Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | I |
| G/V | 0.8526 | likely_pathogenic | 0.8397 | pathogenic | -0.276 | Destabilizing | 1.0 | D | 0.861 | deleterious | D | 0.626485167 | None | None | I |
| G/W | 0.9468 | likely_pathogenic | 0.9302 | pathogenic | -1.112 | Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | I |
| G/Y | 0.9391 | likely_pathogenic | 0.9235 | pathogenic | -0.765 | Destabilizing | 1.0 | D | 0.864 | 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.