Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 25864 | 77815;77816;77817 | chr2:178568542;178568541;178568540 | chr2:179433269;179433268;179433267 |
| N2AB | 24223 | 72892;72893;72894 | chr2:178568542;178568541;178568540 | chr2:179433269;179433268;179433267 |
| N2A | 23296 | 70111;70112;70113 | chr2:178568542;178568541;178568540 | chr2:179433269;179433268;179433267 |
| N2B | 16799 | 50620;50621;50622 | chr2:178568542;178568541;178568540 | chr2:179433269;179433268;179433267 |
| Novex-1 | 16924 | 50995;50996;50997 | chr2:178568542;178568541;178568540 | chr2:179433269;179433268;179433267 |
| Novex-2 | 16991 | 51196;51197;51198 | chr2:178568542;178568541;178568540 | chr2:179433269;179433268;179433267 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/E | None | None | 0.958 | D | 0.607 | 0.644 | 0.645225581225 | 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 |
| D/G | rs780362373  |
-1.139 | 0.919 | D | 0.717 | 0.797 | None | gnomAD-2.1.1 | 8.07E-06 | None | None | None | None | N | None | 6.46E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.94E-06 | 0 |
| D/G | rs780362373 |
-1.139 | 0.919 | D | 0.717 | 0.797 | None | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 4.83E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| D/G | rs780362373 |
-1.139 | 0.919 | D | 0.717 | 0.797 | None | gnomAD-4.0.0 | 3.84479E-06 | None | None | None | None | N | None | 3.38329E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 2.39418E-06 | 0 | 0 |
| D/N | None | None | 0.142 | D | 0.368 | 0.698 | 0.485991781493 | gnomAD-4.0.0 | 1.20033E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.31252E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.957 | likely_pathogenic | 0.9674 | pathogenic | -0.162 | Destabilizing | 0.988 | D | 0.837 | deleterious | D | 0.618798707 | None | None | N |
| D/C | 0.9787 | likely_pathogenic | 0.9819 | pathogenic | -0.037 | Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | N |
| D/E | 0.914 | likely_pathogenic | 0.9276 | pathogenic | -0.811 | Destabilizing | 0.958 | D | 0.607 | neutral | D | 0.633839407 | None | None | N |
| D/F | 0.9908 | likely_pathogenic | 0.9927 | pathogenic | 0.401 | Stabilizing | 1.0 | D | 0.875 | deleterious | None | None | None | None | N |
| D/G | 0.9639 | likely_pathogenic | 0.9712 | pathogenic | -0.583 | Destabilizing | 0.919 | D | 0.717 | prob.delet. | D | 0.644538623 | None | None | N |
| D/H | 0.9302 | likely_pathogenic | 0.9421 | pathogenic | 0.011 | Stabilizing | 0.998 | D | 0.84 | deleterious | D | 0.554428378 | None | None | N |
| D/I | 0.9826 | likely_pathogenic | 0.9852 | pathogenic | 0.963 | Stabilizing | 0.995 | D | 0.864 | deleterious | None | None | None | None | N |
| D/K | 0.9894 | likely_pathogenic | 0.9918 | pathogenic | -0.147 | Destabilizing | 0.991 | D | 0.822 | deleterious | None | None | None | None | N |
| D/L | 0.9836 | likely_pathogenic | 0.9856 | pathogenic | 0.963 | Stabilizing | 0.995 | D | 0.868 | deleterious | None | None | None | None | N |
| D/M | 0.9929 | likely_pathogenic | 0.9941 | pathogenic | 1.4 | Stabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | N |
| D/N | 0.8391 | likely_pathogenic | 0.8374 | pathogenic | -0.831 | Destabilizing | 0.142 | N | 0.368 | neutral | D | 0.603254394 | None | None | N |
| D/P | 0.9979 | likely_pathogenic | 0.9984 | pathogenic | 0.616 | Stabilizing | 0.998 | D | 0.834 | deleterious | None | None | None | None | N |
| D/Q | 0.985 | likely_pathogenic | 0.9886 | pathogenic | -0.585 | Destabilizing | 0.991 | D | 0.805 | deleterious | None | None | None | None | N |
| D/R | 0.9895 | likely_pathogenic | 0.9918 | pathogenic | -0.037 | Destabilizing | 0.991 | D | 0.854 | deleterious | None | None | None | None | N |
| D/S | 0.9079 | likely_pathogenic | 0.9254 | pathogenic | -1.077 | Destabilizing | 0.938 | D | 0.644 | neutral | None | None | None | None | N |
| D/T | 0.9671 | likely_pathogenic | 0.9747 | pathogenic | -0.706 | Destabilizing | 0.991 | D | 0.819 | deleterious | None | None | None | None | N |
| D/V | 0.9614 | likely_pathogenic | 0.9668 | pathogenic | 0.616 | Stabilizing | 0.994 | D | 0.868 | deleterious | D | 0.660961593 | None | None | N |
| D/W | 0.998 | likely_pathogenic | 0.9985 | pathogenic | 0.539 | Stabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | N |
| D/Y | 0.9484 | likely_pathogenic | 0.9589 | pathogenic | 0.661 | Stabilizing | 0.999 | D | 0.875 | deleterious | D | 0.644740428 | 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.