Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 32825 | 98698;98699;98700 | chr2:178539592;178539591;178539590 | chr2:179404319;179404318;179404317 |
| N2AB | 31184 | 93775;93776;93777 | chr2:178539592;178539591;178539590 | chr2:179404319;179404318;179404317 |
| N2A | 30257 | 90994;90995;90996 | chr2:178539592;178539591;178539590 | chr2:179404319;179404318;179404317 |
| N2B | 23760 | 71503;71504;71505 | chr2:178539592;178539591;178539590 | chr2:179404319;179404318;179404317 |
| Novex-1 | 23885 | 71878;71879;71880 | chr2:178539592;178539591;178539590 | chr2:179404319;179404318;179404317 |
| Novex-2 | 23952 | 72079;72080;72081 | chr2:178539592;178539591;178539590 | chr2:179404319;179404318;179404317 |
| 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/S | rs747479441  |
-0.374 | 1.0 | N | 0.715 | 0.411 | 0.34854441366 | gnomAD-2.1.1 | 8.04E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 6.54E-05 | None | 0 | 0 | 0 |
| G/S | rs747479441 |
-0.374 | 1.0 | N | 0.715 | 0.411 | 0.34854441366 | gnomAD-4.0.0 | 4.77339E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 4.29812E-05 | 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 | 0.6719 | likely_pathogenic | 0.6278 | pathogenic | -0.118 | Destabilizing | 1.0 | D | 0.624 | neutral | N | 0.492089478 | None | None | I |
| G/C | 0.829 | likely_pathogenic | 0.8054 | pathogenic | -0.703 | Destabilizing | 1.0 | D | 0.797 | deleterious | N | 0.508182725 | None | None | I |
| G/D | 0.8408 | likely_pathogenic | 0.8252 | pathogenic | -0.465 | Destabilizing | 1.0 | D | 0.699 | prob.neutral | N | 0.506408298 | None | None | I |
| G/E | 0.8916 | likely_pathogenic | 0.8719 | pathogenic | -0.635 | Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | I |
| G/F | 0.9593 | likely_pathogenic | 0.9524 | pathogenic | -0.984 | Destabilizing | 1.0 | D | 0.778 | deleterious | None | None | None | None | I |
| G/H | 0.9439 | likely_pathogenic | 0.9278 | pathogenic | -0.356 | Destabilizing | 1.0 | D | 0.775 | deleterious | None | None | None | None | I |
| G/I | 0.9697 | likely_pathogenic | 0.964 | pathogenic | -0.345 | Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | I |
| G/K | 0.9619 | likely_pathogenic | 0.9533 | pathogenic | -0.497 | Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | I |
| G/L | 0.9381 | likely_pathogenic | 0.9253 | pathogenic | -0.345 | Destabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | I |
| G/M | 0.9529 | likely_pathogenic | 0.9421 | pathogenic | -0.378 | Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | I |
| G/N | 0.8297 | likely_pathogenic | 0.7958 | pathogenic | -0.119 | Destabilizing | 1.0 | D | 0.699 | prob.neutral | None | None | None | None | I |
| G/P | 0.9972 | likely_pathogenic | 0.9967 | pathogenic | -0.24 | Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | I |
| G/Q | 0.9079 | likely_pathogenic | 0.883 | pathogenic | -0.416 | Destabilizing | 1.0 | D | 0.792 | deleterious | None | None | None | None | I |
| G/R | 0.9173 | likely_pathogenic | 0.896 | pathogenic | -0.09 | Destabilizing | 1.0 | D | 0.79 | deleterious | N | 0.501648585 | None | None | I |
| G/S | 0.5261 | ambiguous | 0.4545 | ambiguous | -0.24 | Destabilizing | 1.0 | D | 0.715 | prob.delet. | N | 0.488304043 | None | None | I |
| G/T | 0.8825 | likely_pathogenic | 0.8564 | pathogenic | -0.345 | Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | I |
| G/V | 0.942 | likely_pathogenic | 0.9306 | pathogenic | -0.24 | Destabilizing | 1.0 | D | 0.789 | deleterious | D | 0.529627888 | None | None | I |
| G/W | 0.9612 | likely_pathogenic | 0.9554 | pathogenic | -1.121 | Destabilizing | 1.0 | D | 0.785 | deleterious | None | None | None | None | I |
| G/Y | 0.9428 | likely_pathogenic | 0.9346 | pathogenic | -0.757 | Destabilizing | 1.0 | D | 0.773 | deleterious | 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.