Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33069 | 99430;99431;99432 | chr2:178538624;178538623;178538622 | chr2:179403351;179403350;179403349 |
| N2AB | 31428 | 94507;94508;94509 | chr2:178538624;178538623;178538622 | chr2:179403351;179403350;179403349 |
| N2A | 30501 | 91726;91727;91728 | chr2:178538624;178538623;178538622 | chr2:179403351;179403350;179403349 |
| N2B | 24004 | 72235;72236;72237 | chr2:178538624;178538623;178538622 | chr2:179403351;179403350;179403349 |
| Novex-1 | 24129 | 72610;72611;72612 | chr2:178538624;178538623;178538622 | chr2:179403351;179403350;179403349 |
| Novex-2 | 24196 | 72811;72812;72813 | chr2:178538624;178538623;178538622 | chr2:179403351;179403350;179403349 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Y/C | rs377399232  |
-1.274 | 1.0 | D | 0.855 | 0.905 | None | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.87E-06 | 0 |
| Y/C | rs377399232 |
-1.274 | 1.0 | D | 0.855 | 0.905 | None | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| Y/C | rs377399232 |
-1.274 | 1.0 | D | 0.855 | 0.905 | None | gnomAD-4.0.0 | 6.57065E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.47007E-05 | 0 | 0 |
| Y/N | rs752578821 |
-3.075 | 0.997 | D | 0.863 | 0.875 | 0.944683349554 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| Y/N | rs752578821 |
-3.075 | 0.997 | D | 0.863 | 0.875 | 0.944683349554 | gnomAD-4.0.0 | 3.18296E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 2.8659E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Y/A | 0.9928 | likely_pathogenic | 0.9938 | pathogenic | -2.745 | Highly Destabilizing | 0.996 | D | 0.851 | deleterious | None | None | None | None | N |
| Y/C | 0.9189 | likely_pathogenic | 0.9442 | pathogenic | -1.603 | Destabilizing | 1.0 | D | 0.855 | deleterious | D | 0.66620312 | None | None | N |
| Y/D | 0.9951 | likely_pathogenic | 0.9952 | pathogenic | -3.254 | Highly Destabilizing | 0.998 | D | 0.882 | deleterious | D | 0.691741231 | None | None | N |
| Y/E | 0.998 | likely_pathogenic | 0.9981 | pathogenic | -3.025 | Highly Destabilizing | 0.998 | D | 0.853 | deleterious | None | None | None | None | N |
| Y/F | 0.3151 | likely_benign | 0.343 | ambiguous | -0.843 | Destabilizing | 0.994 | D | 0.749 | deleterious | D | 0.641634745 | None | None | N |
| Y/G | 0.9835 | likely_pathogenic | 0.9824 | pathogenic | -3.187 | Highly Destabilizing | 0.999 | D | 0.863 | deleterious | None | None | None | None | N |
| Y/H | 0.9693 | likely_pathogenic | 0.9772 | pathogenic | -1.974 | Destabilizing | 0.391 | N | 0.586 | neutral | D | 0.691741231 | None | None | N |
| Y/I | 0.9697 | likely_pathogenic | 0.9751 | pathogenic | -1.284 | Destabilizing | 1.0 | D | 0.825 | deleterious | None | None | None | None | N |
| Y/K | 0.9981 | likely_pathogenic | 0.9982 | pathogenic | -2.047 | Highly Destabilizing | 0.999 | D | 0.865 | deleterious | None | None | None | None | N |
| Y/L | 0.9456 | likely_pathogenic | 0.9499 | pathogenic | -1.284 | Destabilizing | 0.996 | D | 0.816 | deleterious | None | None | None | None | N |
| Y/M | 0.9724 | likely_pathogenic | 0.9777 | pathogenic | -1.132 | Destabilizing | 1.0 | D | 0.816 | deleterious | None | None | None | None | N |
| Y/N | 0.9554 | likely_pathogenic | 0.9565 | pathogenic | -2.923 | Highly Destabilizing | 0.997 | D | 0.863 | deleterious | D | 0.691539427 | None | None | N |
| Y/P | 0.9995 | likely_pathogenic | 0.9994 | pathogenic | -1.786 | Destabilizing | 1.0 | D | 0.881 | deleterious | None | None | None | None | N |
| Y/Q | 0.9972 | likely_pathogenic | 0.9977 | pathogenic | -2.598 | Highly Destabilizing | 0.999 | D | 0.826 | deleterious | None | None | None | None | N |
| Y/R | 0.9946 | likely_pathogenic | 0.9952 | pathogenic | -1.979 | Destabilizing | 0.999 | D | 0.867 | deleterious | None | None | None | None | N |
| Y/S | 0.9856 | likely_pathogenic | 0.9866 | pathogenic | -3.248 | Highly Destabilizing | 0.998 | D | 0.855 | deleterious | D | 0.691741231 | None | None | N |
| Y/T | 0.9917 | likely_pathogenic | 0.9926 | pathogenic | -2.887 | Highly Destabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | N |
| Y/V | 0.9449 | likely_pathogenic | 0.9533 | pathogenic | -1.786 | Destabilizing | 1.0 | D | 0.816 | deleterious | None | None | None | None | N |
| Y/W | 0.8516 | likely_pathogenic | 0.8679 | pathogenic | -0.158 | Destabilizing | 1.0 | D | 0.785 | deleterious | None | None | 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.