Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 5692 | 17299;17300;17301 | chr2:178731801;178731800;178731799 | chr2:179596528;179596527;179596526 |
| N2AB | 5375 | 16348;16349;16350 | chr2:178731801;178731800;178731799 | chr2:179596528;179596527;179596526 |
| N2A | 4448 | 13567;13568;13569 | chr2:178731801;178731800;178731799 | chr2:179596528;179596527;179596526 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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 | rs570039271  |
-1.957 | 0.022 | N | 0.431 | 0.132 | 0.373537453441 | gnomAD-2.1.1 | 8.04E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.57E-05 | None | 5.88274E-04 | None | 0 | 8.89E-06 | 0 |
| V/A | rs570039271 |
-1.957 | 0.022 | N | 0.431 | 0.132 | 0.373537453441 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 2.07727E-04 | 0 |
| V/A | rs570039271 |
-1.957 | 0.022 | N | 0.431 | 0.132 | 0.373537453441 | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 0 | 0 | None | None | None | 1E-03 | None |
| V/A | rs570039271 |
-1.957 | 0.022 | N | 0.431 | 0.132 | 0.373537453441 | gnomAD-4.0.0 | 2.23075E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.22886E-05 | None | 0 | 0 | 8.47627E-07 | 3.51393E-04 | 3.20102E-05 |
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 | 0.2377 | likely_benign | 0.2815 | benign | -1.456 | Destabilizing | 0.022 | N | 0.431 | neutral | N | 0.401835271 | None | None | N |
| V/C | 0.7904 | likely_pathogenic | 0.8086 | pathogenic | -0.897 | Destabilizing | 0.998 | D | 0.778 | deleterious | None | None | None | None | N |
| V/D | 0.9181 | likely_pathogenic | 0.9583 | pathogenic | -2.034 | Highly Destabilizing | 0.966 | D | 0.823 | deleterious | N | 0.483011073 | None | None | N |
| V/E | 0.856 | likely_pathogenic | 0.9184 | pathogenic | -1.734 | Destabilizing | 0.974 | D | 0.804 | deleterious | None | None | None | None | N |
| V/F | 0.2568 | likely_benign | 0.3575 | ambiguous | -0.784 | Destabilizing | 0.934 | D | 0.823 | deleterious | N | 0.470233777 | None | None | N |
| V/G | 0.4779 | ambiguous | 0.568 | pathogenic | -2.058 | Highly Destabilizing | 0.669 | D | 0.793 | deleterious | N | 0.42153854 | None | None | N |
| V/H | 0.8912 | likely_pathogenic | 0.9457 | pathogenic | -2.079 | Highly Destabilizing | 0.998 | D | 0.799 | deleterious | None | None | None | None | N |
| V/I | 0.0855 | likely_benign | 0.0903 | benign | 0.256 | Stabilizing | 0.005 | N | 0.375 | neutral | N | 0.438334789 | None | None | N |
| V/K | 0.8906 | likely_pathogenic | 0.9426 | pathogenic | -0.961 | Destabilizing | 0.949 | D | 0.803 | deleterious | None | None | None | None | N |
| V/L | 0.2093 | likely_benign | 0.2464 | benign | 0.256 | Stabilizing | 0.005 | N | 0.441 | neutral | N | 0.436025203 | None | None | N |
| V/M | 0.2429 | likely_benign | 0.3205 | benign | 0.056 | Stabilizing | 0.949 | D | 0.765 | deleterious | None | None | None | None | N |
| V/N | 0.7856 | likely_pathogenic | 0.8669 | pathogenic | -1.518 | Destabilizing | 0.991 | D | 0.835 | deleterious | None | None | None | None | N |
| V/P | 0.9037 | likely_pathogenic | 0.9376 | pathogenic | -0.29 | Destabilizing | 0.974 | D | 0.809 | deleterious | None | None | None | None | N |
| V/Q | 0.8166 | likely_pathogenic | 0.8951 | pathogenic | -1.16 | Destabilizing | 0.991 | D | 0.815 | deleterious | None | None | None | None | N |
| V/R | 0.8428 | likely_pathogenic | 0.9078 | pathogenic | -1.267 | Destabilizing | 0.974 | D | 0.833 | deleterious | None | None | None | None | N |
| V/S | 0.513 | ambiguous | 0.6152 | pathogenic | -2.116 | Highly Destabilizing | 0.728 | D | 0.789 | deleterious | None | None | None | None | N |
| V/T | 0.3714 | ambiguous | 0.4688 | ambiguous | -1.639 | Destabilizing | 0.842 | D | 0.746 | deleterious | None | None | None | None | N |
| V/W | 0.936 | likely_pathogenic | 0.9642 | pathogenic | -1.348 | Destabilizing | 0.998 | D | 0.806 | deleterious | None | None | None | None | N |
| V/Y | 0.754 | likely_pathogenic | 0.8375 | pathogenic | -0.858 | Destabilizing | 0.991 | D | 0.821 | 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.