Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 7972 | 24139;24140;24141 | chr2:178719578;178719577;178719576 | chr2:179584305;179584304;179584303 |
| N2AB | 7655 | 23188;23189;23190 | chr2:178719578;178719577;178719576 | chr2:179584305;179584304;179584303 |
| N2A | 6728 | 20407;20408;20409 | chr2:178719578;178719577;178719576 | chr2:179584305;179584304;179584303 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/Y | rs376354376  |
-1.66 | 0.999 | N | 0.807 | 0.426 | 0.825124570899 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.56E-05 | None | 0 | None | 0 | 0 | 0 |
| C/Y | rs376354376 |
-1.66 | 0.999 | N | 0.807 | 0.426 | 0.825124570899 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 2.06954E-04 | 0 |
| C/Y | rs376354376 |
-1.66 | 0.999 | N | 0.807 | 0.426 | 0.825124570899 | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 0 | 0 | None | None | None | 1E-03 | None |
| C/Y | rs376354376 |
-1.66 | 0.999 | N | 0.807 | 0.426 | 0.825124570899 | gnomAD-4.0.0 | 3.72528E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 4.4609E-05 | None | 0 | 0 | 0 | 4.40927E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/A | 0.5592 | ambiguous | 0.4978 | ambiguous | -1.888 | Destabilizing | 0.931 | D | 0.619 | neutral | None | None | None | None | N |
| C/D | 0.8935 | likely_pathogenic | 0.8303 | pathogenic | -0.442 | Destabilizing | 0.996 | D | 0.823 | deleterious | None | None | None | None | N |
| C/E | 0.9474 | likely_pathogenic | 0.9208 | pathogenic | -0.34 | Destabilizing | 0.996 | D | 0.842 | deleterious | None | None | None | None | N |
| C/F | 0.5368 | ambiguous | 0.4554 | ambiguous | -1.235 | Destabilizing | 0.999 | D | 0.793 | deleterious | N | 0.507026269 | None | None | N |
| C/G | 0.4067 | ambiguous | 0.3263 | benign | -2.199 | Highly Destabilizing | 0.98 | D | 0.811 | deleterious | N | 0.487769925 | None | None | N |
| C/H | 0.8711 | likely_pathogenic | 0.8158 | pathogenic | -2.126 | Highly Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | N |
| C/I | 0.6946 | likely_pathogenic | 0.665 | pathogenic | -1.085 | Destabilizing | 0.998 | D | 0.771 | deleterious | None | None | None | None | N |
| C/K | 0.9683 | likely_pathogenic | 0.9529 | pathogenic | -1.061 | Destabilizing | 0.996 | D | 0.813 | deleterious | None | None | None | None | N |
| C/L | 0.7291 | likely_pathogenic | 0.6715 | pathogenic | -1.085 | Destabilizing | 0.993 | D | 0.741 | deleterious | None | None | None | None | N |
| C/M | 0.8074 | likely_pathogenic | 0.7677 | pathogenic | -0.081 | Destabilizing | 1.0 | D | 0.766 | deleterious | None | None | None | None | N |
| C/N | 0.8461 | likely_pathogenic | 0.7633 | pathogenic | -1.032 | Destabilizing | 0.996 | D | 0.842 | deleterious | None | None | None | None | N |
| C/P | 0.9964 | likely_pathogenic | 0.9949 | pathogenic | -1.327 | Destabilizing | 0.998 | D | 0.859 | deleterious | None | None | None | None | N |
| C/Q | 0.9018 | likely_pathogenic | 0.8566 | pathogenic | -0.946 | Destabilizing | 0.998 | D | 0.86 | deleterious | None | None | None | None | N |
| C/R | 0.8206 | likely_pathogenic | 0.7574 | pathogenic | -0.888 | Destabilizing | 0.997 | D | 0.853 | deleterious | N | 0.482565685 | None | None | N |
| C/S | 0.4642 | ambiguous | 0.3681 | ambiguous | -1.601 | Destabilizing | 0.659 | D | 0.541 | neutral | N | 0.487111037 | None | None | N |
| C/T | 0.5721 | likely_pathogenic | 0.4938 | ambiguous | -1.313 | Destabilizing | 0.971 | D | 0.76 | deleterious | None | None | None | None | N |
| C/V | 0.5995 | likely_pathogenic | 0.5548 | ambiguous | -1.327 | Destabilizing | 0.993 | D | 0.773 | deleterious | None | None | None | None | N |
| C/W | 0.8975 | likely_pathogenic | 0.8439 | pathogenic | -1.186 | Destabilizing | 1.0 | D | 0.772 | deleterious | D | 0.530663932 | None | None | N |
| C/Y | 0.7335 | likely_pathogenic | 0.6328 | pathogenic | -1.203 | Destabilizing | 0.999 | D | 0.807 | deleterious | N | 0.518800648 | 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.