Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 32205 | 96838;96839;96840 | chr2:178543360;178543359;178543358 | chr2:179408087;179408086;179408085 |
| N2AB | 30564 | 91915;91916;91917 | chr2:178543360;178543359;178543358 | chr2:179408087;179408086;179408085 |
| N2A | 29637 | 89134;89135;89136 | chr2:178543360;178543359;178543358 | chr2:179408087;179408086;179408085 |
| N2B | 23140 | 69643;69644;69645 | chr2:178543360;178543359;178543358 | chr2:179408087;179408086;179408085 |
| Novex-1 | 23265 | 70018;70019;70020 | chr2:178543360;178543359;178543358 | chr2:179408087;179408086;179408085 |
| Novex-2 | 23332 | 70219;70220;70221 | chr2:178543360;178543359;178543358 | chr2:179408087;179408086;179408085 |
| 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 | rs922829895  |
None | 0.002 | N | 0.313 | 0.085 | 0.326616659874 | gnomAD-4.0.0 | 1.59116E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85811E-06 | 0 | 0 |
| V/L | None | None | 0.094 | N | 0.481 | 0.122 | 0.443797312901 | gnomAD-4.0.0 | 1.59116E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43271E-05 | 0 |
| V/M | rs372312129 |
-1.286 | 0.781 | N | 0.649 | 0.198 | None | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.87E-06 | 0 |
| V/M | rs372312129 |
-1.286 | 0.781 | N | 0.649 | 0.198 | None | gnomAD-4.0.0 | 1.59116E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85809E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.1372 | likely_benign | 0.141 | benign | -1.776 | Destabilizing | 0.002 | N | 0.313 | neutral | N | 0.367362912 | None | None | I |
| V/C | 0.6611 | likely_pathogenic | 0.6647 | pathogenic | -1.201 | Destabilizing | 0.947 | D | 0.778 | deleterious | None | None | None | None | I |
| V/D | 0.4928 | ambiguous | 0.4871 | ambiguous | -2.137 | Highly Destabilizing | 0.7 | D | 0.845 | deleterious | None | None | None | None | I |
| V/E | 0.3441 | ambiguous | 0.3574 | ambiguous | -2.127 | Highly Destabilizing | 0.638 | D | 0.753 | deleterious | N | 0.476341391 | None | None | I |
| V/F | 0.2558 | likely_benign | 0.2393 | benign | -1.407 | Destabilizing | 0.826 | D | 0.795 | deleterious | None | None | None | None | I |
| V/G | 0.244 | likely_benign | 0.2371 | benign | -2.099 | Highly Destabilizing | 0.468 | N | 0.712 | prob.delet. | N | 0.487211745 | None | None | I |
| V/H | 0.6328 | likely_pathogenic | 0.6294 | pathogenic | -1.615 | Destabilizing | 0.982 | D | 0.862 | deleterious | None | None | None | None | I |
| V/I | 0.0956 | likely_benign | 0.0885 | benign | -0.971 | Destabilizing | 0.215 | N | 0.488 | neutral | None | None | None | None | I |
| V/K | 0.4459 | ambiguous | 0.4837 | ambiguous | -1.453 | Destabilizing | 0.7 | D | 0.754 | deleterious | None | None | None | None | I |
| V/L | 0.1995 | likely_benign | 0.1895 | benign | -0.971 | Destabilizing | 0.094 | N | 0.481 | neutral | N | 0.505450789 | None | None | I |
| V/M | 0.1899 | likely_benign | 0.175 | benign | -0.722 | Destabilizing | 0.781 | D | 0.649 | neutral | N | 0.469050059 | None | None | I |
| V/N | 0.3942 | ambiguous | 0.3695 | ambiguous | -1.32 | Destabilizing | 0.826 | D | 0.857 | deleterious | None | None | None | None | I |
| V/P | 0.1709 | likely_benign | 0.1881 | benign | -1.208 | Destabilizing | 0.7 | D | 0.805 | deleterious | None | None | None | None | I |
| V/Q | 0.3461 | ambiguous | 0.3658 | ambiguous | -1.531 | Destabilizing | 0.826 | D | 0.831 | deleterious | None | None | None | None | I |
| V/R | 0.3806 | ambiguous | 0.4273 | ambiguous | -0.873 | Destabilizing | 0.7 | D | 0.853 | deleterious | None | None | None | None | I |
| V/S | 0.1969 | likely_benign | 0.1964 | benign | -1.788 | Destabilizing | 0.539 | D | 0.688 | prob.neutral | None | None | None | None | I |
| V/T | 0.2072 | likely_benign | 0.2012 | benign | -1.682 | Destabilizing | 0.25 | N | 0.474 | neutral | None | None | None | None | I |
| V/W | 0.865 | likely_pathogenic | 0.8513 | pathogenic | -1.631 | Destabilizing | 0.982 | D | 0.835 | deleterious | None | None | None | None | I |
| V/Y | 0.624 | likely_pathogenic | 0.6098 | pathogenic | -1.356 | Destabilizing | 0.826 | D | 0.801 | 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.