Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 25665 | 77218;77219;77220 | chr2:178569139;178569138;178569137 | chr2:179433866;179433865;179433864 |
| N2AB | 24024 | 72295;72296;72297 | chr2:178569139;178569138;178569137 | chr2:179433866;179433865;179433864 |
| N2A | 23097 | 69514;69515;69516 | chr2:178569139;178569138;178569137 | chr2:179433866;179433865;179433864 |
| N2B | 16600 | 50023;50024;50025 | chr2:178569139;178569138;178569137 | chr2:179433866;179433865;179433864 |
| Novex-1 | 16725 | 50398;50399;50400 | chr2:178569139;178569138;178569137 | chr2:179433866;179433865;179433864 |
| Novex-2 | 16792 | 50599;50600;50601 | chr2:178569139;178569138;178569137 | chr2:179433866;179433865;179433864 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| L/F | None | None | 1.0 | D | 0.866 | 0.779 | 0.855015063396 | gnomAD-4.0.0 | 1.20033E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.31251E-06 | 0 | 0 |
| L/H | None | None | 1.0 | D | 0.813 | 0.84 | 0.948263504043 | gnomAD-4.0.0 | 6.8435E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99627E-07 | 0 | 0 |
| L/R | rs188012906  |
-1.904 | 1.0 | D | 0.848 | 0.893 | None | gnomAD-2.1.1 | 8.05E-06 | None | None | None | None | N | None | 0 | 5.8E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| L/R | rs188012906 |
-1.904 | 1.0 | D | 0.848 | 0.893 | None | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 0 | 1.96773E-04 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| L/R | rs188012906 |
-1.904 | 1.0 | D | 0.848 | 0.893 | None | 1000 genomes | 3.99361E-04 | None | None | None | None | N | None | 0 | 2.9E-03 | None | None | 0 | 0 | None | None | None | 0 | None |
| L/R | rs188012906 |
-1.904 | 1.0 | D | 0.848 | 0.893 | None | gnomAD-4.0.0 | 3.09897E-06 | None | None | None | None | N | None | 0 | 8.33639E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| L/A | 0.9699 | likely_pathogenic | 0.9663 | pathogenic | -2.775 | Highly Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | N |
| L/C | 0.9597 | likely_pathogenic | 0.9598 | pathogenic | -2.293 | Highly Destabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | N |
| L/D | 0.9996 | likely_pathogenic | 0.9996 | pathogenic | -2.996 | Highly Destabilizing | 1.0 | D | 0.862 | deleterious | None | None | None | None | N |
| L/E | 0.9979 | likely_pathogenic | 0.9974 | pathogenic | -2.821 | Highly Destabilizing | 1.0 | D | 0.85 | deleterious | None | None | None | None | N |
| L/F | 0.9231 | likely_pathogenic | 0.9198 | pathogenic | -1.87 | Destabilizing | 1.0 | D | 0.866 | deleterious | D | 0.641295447 | None | None | N |
| L/G | 0.9938 | likely_pathogenic | 0.9929 | pathogenic | -3.297 | Highly Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | N |
| L/H | 0.9962 | likely_pathogenic | 0.9956 | pathogenic | -2.604 | Highly Destabilizing | 1.0 | D | 0.813 | deleterious | D | 0.683660137 | None | None | N |
| L/I | 0.4687 | ambiguous | 0.4352 | ambiguous | -1.283 | Destabilizing | 0.995 | D | 0.831 | deleterious | D | 0.64446539 | None | None | N |
| L/K | 0.9966 | likely_pathogenic | 0.996 | pathogenic | -2.186 | Highly Destabilizing | 0.999 | D | 0.843 | deleterious | None | None | None | None | N |
| L/M | 0.5781 | likely_pathogenic | 0.5638 | ambiguous | -1.191 | Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | N |
| L/N | 0.9964 | likely_pathogenic | 0.9957 | pathogenic | -2.433 | Highly Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | N |
| L/P | 0.9936 | likely_pathogenic | 0.993 | pathogenic | -1.76 | Destabilizing | 1.0 | D | 0.859 | deleterious | D | 0.683660137 | None | None | N |
| L/Q | 0.9918 | likely_pathogenic | 0.9894 | pathogenic | -2.401 | Highly Destabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | N |
| L/R | 0.9934 | likely_pathogenic | 0.992 | pathogenic | -1.703 | Destabilizing | 1.0 | D | 0.848 | deleterious | D | 0.658122025 | None | None | N |
| L/S | 0.9961 | likely_pathogenic | 0.9953 | pathogenic | -3.173 | Highly Destabilizing | 1.0 | D | 0.848 | deleterious | None | None | None | None | N |
| L/T | 0.9764 | likely_pathogenic | 0.9711 | pathogenic | -2.849 | Highly Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | N |
| L/V | 0.5063 | ambiguous | 0.4784 | ambiguous | -1.76 | Destabilizing | 0.996 | D | 0.84 | deleterious | D | 0.605340287 | None | None | N |
| L/W | 0.9936 | likely_pathogenic | 0.9926 | pathogenic | -2.17 | Highly Destabilizing | 1.0 | D | 0.775 | deleterious | None | None | None | None | N |
| L/Y | 0.9933 | likely_pathogenic | 0.9928 | pathogenic | -1.939 | Destabilizing | 0.999 | D | 0.823 | 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.