Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 20290 | 61093;61094;61095 | chr2:178590857;178590856;178590855 | chr2:179455584;179455583;179455582 |
| N2AB | 18649 | 56170;56171;56172 | chr2:178590857;178590856;178590855 | chr2:179455584;179455583;179455582 |
| N2A | 17722 | 53389;53390;53391 | chr2:178590857;178590856;178590855 | chr2:179455584;179455583;179455582 |
| N2B | 11225 | 33898;33899;33900 | chr2:178590857;178590856;178590855 | chr2:179455584;179455583;179455582 |
| Novex-1 | 11350 | 34273;34274;34275 | chr2:178590857;178590856;178590855 | chr2:179455584;179455583;179455582 |
| Novex-2 | 11417 | 34474;34475;34476 | chr2:178590857;178590856;178590855 | chr2:179455584;179455583;179455582 |
| 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 | rs550655820  |
-2.038 | 0.896 | N | 0.665 | 0.356 | None | gnomAD-2.1.1 | 2.87E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 6.27E-05 | 0 |
| V/A | rs550655820 |
-2.038 | 0.896 | N | 0.665 | 0.356 | None | gnomAD-3.1.2 | 3.95E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 8.83E-05 | 0 | 0 |
| V/A | rs550655820 |
-2.038 | 0.896 | N | 0.665 | 0.356 | None | gnomAD-4.0.0 | 4.16202E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.60908E-05 | 0 | 1.60545E-05 |
| V/M | None | None | 0.968 | N | 0.657 | 0.343 | 0.348324211639 | gnomAD-4.0.0 | 1.60089E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.88349E-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 | 0.719 | likely_pathogenic | 0.685 | pathogenic | -1.809 | Destabilizing | 0.896 | D | 0.665 | neutral | N | 0.492376783 | None | None | N |
| V/C | 0.9243 | likely_pathogenic | 0.9118 | pathogenic | -1.338 | Destabilizing | 0.999 | D | 0.72 | prob.delet. | None | None | None | None | N |
| V/D | 0.9971 | likely_pathogenic | 0.9967 | pathogenic | -2.9 | Highly Destabilizing | 0.996 | D | 0.886 | deleterious | None | None | None | None | N |
| V/E | 0.9915 | likely_pathogenic | 0.9903 | pathogenic | -2.594 | Highly Destabilizing | 0.995 | D | 0.846 | deleterious | D | 0.522851301 | None | None | N |
| V/F | 0.7033 | likely_pathogenic | 0.7199 | pathogenic | -0.989 | Destabilizing | 0.976 | D | 0.731 | prob.delet. | None | None | None | None | N |
| V/G | 0.9089 | likely_pathogenic | 0.9 | pathogenic | -2.41 | Highly Destabilizing | 0.984 | D | 0.865 | deleterious | D | 0.522851301 | None | None | N |
| V/H | 0.9962 | likely_pathogenic | 0.996 | pathogenic | -2.566 | Highly Destabilizing | 0.999 | D | 0.866 | deleterious | None | None | None | None | N |
| V/I | 0.0796 | likely_benign | 0.0773 | benign | -0.083 | Destabilizing | 0.132 | N | 0.269 | neutral | None | None | None | None | N |
| V/K | 0.9936 | likely_pathogenic | 0.9934 | pathogenic | -1.453 | Destabilizing | 0.988 | D | 0.843 | deleterious | None | None | None | None | N |
| V/L | 0.2562 | likely_benign | 0.2441 | benign | -0.083 | Destabilizing | 0.011 | N | 0.295 | neutral | N | 0.398739038 | None | None | N |
| V/M | 0.4312 | ambiguous | 0.4254 | ambiguous | -0.375 | Destabilizing | 0.968 | D | 0.657 | neutral | N | 0.47953922 | None | None | N |
| V/N | 0.9895 | likely_pathogenic | 0.9878 | pathogenic | -2.084 | Highly Destabilizing | 0.996 | D | 0.891 | deleterious | None | None | None | None | N |
| V/P | 0.9914 | likely_pathogenic | 0.99 | pathogenic | -0.636 | Destabilizing | 0.996 | D | 0.854 | deleterious | None | None | None | None | N |
| V/Q | 0.9883 | likely_pathogenic | 0.9876 | pathogenic | -1.723 | Destabilizing | 0.996 | D | 0.868 | deleterious | None | None | None | None | N |
| V/R | 0.9884 | likely_pathogenic | 0.9882 | pathogenic | -1.657 | Destabilizing | 0.988 | D | 0.883 | deleterious | None | None | None | None | N |
| V/S | 0.9507 | likely_pathogenic | 0.9432 | pathogenic | -2.568 | Highly Destabilizing | 0.988 | D | 0.823 | deleterious | None | None | None | None | N |
| V/T | 0.8745 | likely_pathogenic | 0.8579 | pathogenic | -2.103 | Highly Destabilizing | 0.959 | D | 0.662 | neutral | None | None | None | None | N |
| V/W | 0.9962 | likely_pathogenic | 0.9965 | pathogenic | -1.678 | Destabilizing | 0.999 | D | 0.835 | deleterious | None | None | None | None | N |
| V/Y | 0.9812 | likely_pathogenic | 0.9822 | pathogenic | -1.225 | Destabilizing | 0.988 | D | 0.715 | prob.delet. | 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.