Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 32446 | 97561;97562;97563 | chr2:178542420;178542419;178542418 | chr2:179407147;179407146;179407145 |
| N2AB | 30805 | 92638;92639;92640 | chr2:178542420;178542419;178542418 | chr2:179407147;179407146;179407145 |
| N2A | 29878 | 89857;89858;89859 | chr2:178542420;178542419;178542418 | chr2:179407147;179407146;179407145 |
| N2B | 23381 | 70366;70367;70368 | chr2:178542420;178542419;178542418 | chr2:179407147;179407146;179407145 |
| Novex-1 | 23506 | 70741;70742;70743 | chr2:178542420;178542419;178542418 | chr2:179407147;179407146;179407145 |
| Novex-2 | 23573 | 70942;70943;70944 | chr2:178542420;178542419;178542418 | chr2:179407147;179407146;179407145 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/R | None | None | 1.0 | N | 0.655 | 0.425 | 0.467839254973 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.66327E-05 |
| G/V | rs1410045812  |
0.149 | 1.0 | N | 0.686 | 0.441 | 0.479133204078 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | I | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| G/V | rs1410045812 |
0.149 | 1.0 | N | 0.686 | 0.441 | 0.479133204078 | gnomAD-4.0.0 | 1.59154E-06 | None | None | None | None | I | None | 0 | 2.28676E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.2573 | likely_benign | 0.24 | benign | -0.395 | Destabilizing | 1.0 | D | 0.555 | neutral | N | 0.445599983 | None | None | I |
| G/C | 0.4831 | ambiguous | 0.4366 | ambiguous | -0.657 | Destabilizing | 1.0 | D | 0.703 | prob.neutral | None | None | None | None | I |
| G/D | 0.7664 | likely_pathogenic | 0.7842 | pathogenic | -0.558 | Destabilizing | 1.0 | D | 0.567 | neutral | None | None | None | None | I |
| G/E | 0.7257 | likely_pathogenic | 0.747 | pathogenic | -0.638 | Destabilizing | 1.0 | D | 0.645 | neutral | N | 0.44180753 | None | None | I |
| G/F | 0.8353 | likely_pathogenic | 0.8311 | pathogenic | -0.809 | Destabilizing | 1.0 | D | 0.676 | prob.neutral | None | None | None | None | I |
| G/H | 0.8236 | likely_pathogenic | 0.812 | pathogenic | -0.692 | Destabilizing | 1.0 | D | 0.662 | neutral | None | None | None | None | I |
| G/I | 0.5613 | ambiguous | 0.5436 | ambiguous | -0.234 | Destabilizing | 1.0 | D | 0.681 | prob.neutral | None | None | None | None | I |
| G/K | 0.9058 | likely_pathogenic | 0.9148 | pathogenic | -0.878 | Destabilizing | 1.0 | D | 0.645 | neutral | None | None | None | None | I |
| G/L | 0.7157 | likely_pathogenic | 0.6926 | pathogenic | -0.234 | Destabilizing | 1.0 | D | 0.692 | prob.neutral | None | None | None | None | I |
| G/M | 0.7592 | likely_pathogenic | 0.7358 | pathogenic | -0.431 | Destabilizing | 1.0 | D | 0.693 | prob.neutral | None | None | None | None | I |
| G/N | 0.6369 | likely_pathogenic | 0.642 | pathogenic | -0.564 | Destabilizing | 1.0 | D | 0.61 | neutral | None | None | None | None | I |
| G/P | 0.9597 | likely_pathogenic | 0.967 | pathogenic | -0.25 | Destabilizing | 1.0 | D | 0.658 | neutral | None | None | None | None | I |
| G/Q | 0.7488 | likely_pathogenic | 0.7469 | pathogenic | -0.739 | Destabilizing | 1.0 | D | 0.666 | neutral | None | None | None | None | I |
| G/R | 0.8079 | likely_pathogenic | 0.8085 | pathogenic | -0.528 | Destabilizing | 1.0 | D | 0.655 | neutral | N | 0.480347275 | None | None | I |
| G/S | 0.2224 | likely_benign | 0.2104 | benign | -0.768 | Destabilizing | 1.0 | D | 0.627 | neutral | None | None | None | None | I |
| G/T | 0.4046 | ambiguous | 0.3928 | ambiguous | -0.767 | Destabilizing | 1.0 | D | 0.647 | neutral | None | None | None | None | I |
| G/V | 0.4236 | ambiguous | 0.3962 | ambiguous | -0.25 | Destabilizing | 1.0 | D | 0.686 | prob.neutral | N | 0.458587923 | None | None | I |
| G/W | 0.8341 | likely_pathogenic | 0.8017 | pathogenic | -1.099 | Destabilizing | 1.0 | D | 0.677 | prob.neutral | None | None | None | None | I |
| G/Y | 0.8039 | likely_pathogenic | 0.783 | pathogenic | -0.684 | Destabilizing | 1.0 | D | 0.681 | prob.neutral | 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.