Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 31013 | 93262;93263;93264 | chr2:178548589;178548588;178548587 | chr2:179413316;179413315;179413314 |
| N2AB | 29372 | 88339;88340;88341 | chr2:178548589;178548588;178548587 | chr2:179413316;179413315;179413314 |
| N2A | 28445 | 85558;85559;85560 | chr2:178548589;178548588;178548587 | chr2:179413316;179413315;179413314 |
| N2B | 21948 | 66067;66068;66069 | chr2:178548589;178548588;178548587 | chr2:179413316;179413315;179413314 |
| Novex-1 | 22073 | 66442;66443;66444 | chr2:178548589;178548588;178548587 | chr2:179413316;179413315;179413314 |
| Novex-2 | 22140 | 66643;66644;66645 | chr2:178548589;178548588;178548587 | chr2:179413316;179413315;179413314 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | rs775726229  |
-0.197 | 0.999 | D | 0.777 | 0.855 | 0.854817521851 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.9E-06 | 0 |
| V/A | rs775726229 |
-0.197 | 0.999 | D | 0.777 | 0.855 | 0.854817521851 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| V/A | rs775726229 |
-0.197 | 0.999 | D | 0.777 | 0.855 | 0.854817521851 | gnomAD-4.0.0 | 6.57523E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.47067E-05 | 0 | 0 |
| V/G | None | None | 1.0 | D | 0.806 | 0.839 | 0.9239169 | gnomAD-4.0.0 | 3.18225E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 2.86541E-05 | 0 |
| V/M | None | None | 1.0 | D | 0.872 | 0.754 | 0.850164657762 | gnomAD-4.0.0 | 3.18222E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 2.86541E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.9721 | likely_pathogenic | 0.9594 | pathogenic | -1.846 | Destabilizing | 0.999 | D | 0.777 | deleterious | D | 0.606213609 | None | None | I |
| V/C | 0.9892 | likely_pathogenic | 0.9868 | pathogenic | -1.411 | Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | I |
| V/D | 0.9984 | likely_pathogenic | 0.998 | pathogenic | -2.256 | Highly Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | I |
| V/E | 0.9961 | likely_pathogenic | 0.9951 | pathogenic | -2.241 | Highly Destabilizing | 1.0 | D | 0.833 | deleterious | D | 0.622838382 | None | None | I |
| V/F | 0.973 | likely_pathogenic | 0.9689 | pathogenic | -1.496 | Destabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | I |
| V/G | 0.9723 | likely_pathogenic | 0.9601 | pathogenic | -2.174 | Highly Destabilizing | 1.0 | D | 0.806 | deleterious | D | 0.622838382 | None | None | I |
| V/H | 0.9989 | likely_pathogenic | 0.9987 | pathogenic | -1.68 | Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | I |
| V/I | 0.1613 | likely_benign | 0.1727 | benign | -1.018 | Destabilizing | 0.998 | D | 0.751 | deleterious | None | None | None | None | I |
| V/K | 0.9974 | likely_pathogenic | 0.9968 | pathogenic | -1.539 | Destabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | I |
| V/L | 0.9377 | likely_pathogenic | 0.9299 | pathogenic | -1.018 | Destabilizing | 0.997 | D | 0.784 | deleterious | D | 0.604195566 | None | None | I |
| V/M | 0.9442 | likely_pathogenic | 0.9355 | pathogenic | -0.815 | Destabilizing | 1.0 | D | 0.872 | deleterious | D | 0.622434774 | None | None | I |
| V/N | 0.9914 | likely_pathogenic | 0.99 | pathogenic | -1.445 | Destabilizing | 1.0 | D | 0.838 | deleterious | None | None | None | None | I |
| V/P | 0.9942 | likely_pathogenic | 0.9935 | pathogenic | -1.263 | Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | I |
| V/Q | 0.997 | likely_pathogenic | 0.9962 | pathogenic | -1.649 | Destabilizing | 1.0 | D | 0.848 | deleterious | None | None | None | None | I |
| V/R | 0.9952 | likely_pathogenic | 0.9943 | pathogenic | -0.975 | Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | I |
| V/S | 0.9861 | likely_pathogenic | 0.9811 | pathogenic | -1.931 | Destabilizing | 1.0 | D | 0.822 | deleterious | None | None | None | None | I |
| V/T | 0.969 | likely_pathogenic | 0.9609 | pathogenic | -1.815 | Destabilizing | 0.999 | D | 0.815 | deleterious | None | None | None | None | I |
| V/W | 0.9996 | likely_pathogenic | 0.9996 | pathogenic | -1.713 | Destabilizing | 1.0 | D | 0.785 | deleterious | None | None | None | None | I |
| V/Y | 0.996 | likely_pathogenic | 0.9951 | pathogenic | -1.436 | Destabilizing | 1.0 | D | 0.867 | 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.