Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 16602 | 50029;50030;50031 | chr2:178612917;178612916;178612915 | chr2:179477644;179477643;179477642 |
| N2AB | 14961 | 45106;45107;45108 | chr2:178612917;178612916;178612915 | chr2:179477644;179477643;179477642 |
| N2A | 14034 | 42325;42326;42327 | chr2:178612917;178612916;178612915 | chr2:179477644;179477643;179477642 |
| N2B | 7537 | 22834;22835;22836 | chr2:178612917;178612916;178612915 | chr2:179477644;179477643;179477642 |
| Novex-1 | 7662 | 23209;23210;23211 | chr2:178612917;178612916;178612915 | chr2:179477644;179477643;179477642 |
| Novex-2 | 7729 | 23410;23411;23412 | chr2:178612917;178612916;178612915 | chr2:179477644;179477643;179477642 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/T | rs375970324  |
-1.48 | 0.996 | N | 0.668 | 0.253 | None | gnomAD-2.1.1 | 1.07E-05 | None | None | None | None | N | None | 1.24172E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| A/T | rs375970324 |
-1.48 | 0.996 | N | 0.668 | 0.253 | None | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | N | None | 4.83E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| A/T | rs375970324 |
-1.48 | 0.996 | N | 0.668 | 0.253 | None | gnomAD-4.0.0 | 7.69815E-06 | None | None | None | None | N | None | 8.46912E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 2.8503E-05 |
| A/V | rs748344757 |
-0.285 | 0.977 | N | 0.431 | 0.199 | 0.444706120422 | gnomAD-2.1.1 | 1.61E-05 | None | None | None | None | N | None | 0 | 1.16191E-04 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| A/V | rs748344757 |
-0.285 | 0.977 | N | 0.431 | 0.199 | 0.444706120422 | gnomAD-4.0.0 | 1.11556E-05 | None | None | None | None | N | None | 5.67601E-05 | 1.1449E-04 | None | 0 | 0 | None | 0 | 0 | 2.8619E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.5469 | ambiguous | 0.5103 | ambiguous | -0.907 | Destabilizing | 1.0 | D | 0.787 | deleterious | None | None | None | None | N |
| A/D | 0.6041 | likely_pathogenic | 0.6908 | pathogenic | -1.505 | Destabilizing | 1.0 | D | 0.747 | deleterious | None | None | None | None | N |
| A/E | 0.4948 | ambiguous | 0.5864 | pathogenic | -1.471 | Destabilizing | 1.0 | D | 0.717 | prob.delet. | N | 0.478363644 | None | None | N |
| A/F | 0.5508 | ambiguous | 0.5695 | pathogenic | -0.93 | Destabilizing | 1.0 | D | 0.768 | deleterious | None | None | None | None | N |
| A/G | 0.2567 | likely_benign | 0.2746 | benign | -1.286 | Destabilizing | 1.0 | D | 0.633 | neutral | N | 0.472825861 | None | None | N |
| A/H | 0.6768 | likely_pathogenic | 0.731 | pathogenic | -1.518 | Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | N |
| A/I | 0.4211 | ambiguous | 0.404 | ambiguous | -0.211 | Destabilizing | 0.994 | D | 0.676 | prob.neutral | None | None | None | None | N |
| A/K | 0.6897 | likely_pathogenic | 0.7727 | pathogenic | -1.391 | Destabilizing | 1.0 | D | 0.727 | prob.delet. | None | None | None | None | N |
| A/L | 0.3243 | likely_benign | 0.3267 | benign | -0.211 | Destabilizing | 0.994 | D | 0.563 | neutral | None | None | None | None | N |
| A/M | 0.3786 | ambiguous | 0.3738 | ambiguous | -0.203 | Destabilizing | 1.0 | D | 0.785 | deleterious | None | None | None | None | N |
| A/N | 0.56 | ambiguous | 0.6146 | pathogenic | -1.219 | Destabilizing | 1.0 | D | 0.768 | deleterious | None | None | None | None | N |
| A/P | 0.9609 | likely_pathogenic | 0.9752 | pathogenic | -0.419 | Destabilizing | 1.0 | D | 0.767 | deleterious | N | 0.474738379 | None | None | N |
| A/Q | 0.5301 | ambiguous | 0.6064 | pathogenic | -1.278 | Destabilizing | 1.0 | D | 0.78 | deleterious | None | None | None | None | N |
| A/R | 0.6331 | likely_pathogenic | 0.7361 | pathogenic | -1.11 | Destabilizing | 1.0 | D | 0.775 | deleterious | None | None | None | None | N |
| A/S | 0.1274 | likely_benign | 0.1322 | benign | -1.561 | Destabilizing | 0.998 | D | 0.619 | neutral | N | 0.47111829 | None | None | N |
| A/T | 0.1326 | likely_benign | 0.1369 | benign | -1.42 | Destabilizing | 0.996 | D | 0.668 | neutral | N | 0.471487069 | None | None | N |
| A/V | 0.189 | likely_benign | 0.1852 | benign | -0.419 | Destabilizing | 0.977 | D | 0.431 | neutral | N | 0.473422957 | None | None | N |
| A/W | 0.8966 | likely_pathogenic | 0.9201 | pathogenic | -1.401 | Destabilizing | 1.0 | D | 0.778 | deleterious | None | None | None | None | N |
| A/Y | 0.7451 | likely_pathogenic | 0.7685 | pathogenic | -0.939 | Destabilizing | 1.0 | D | 0.781 | 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.