Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 18094 | 54505;54506;54507 | chr2:178604809;178604808;178604807 | chr2:179469536;179469535;179469534 |
| N2AB | 16453 | 49582;49583;49584 | chr2:178604809;178604808;178604807 | chr2:179469536;179469535;179469534 |
| N2A | 15526 | 46801;46802;46803 | chr2:178604809;178604808;178604807 | chr2:179469536;179469535;179469534 |
| N2B | 9029 | 27310;27311;27312 | chr2:178604809;178604808;178604807 | chr2:179469536;179469535;179469534 |
| Novex-1 | 9154 | 27685;27686;27687 | chr2:178604809;178604808;178604807 | chr2:179469536;179469535;179469534 |
| Novex-2 | 9221 | 27886;27887;27888 | chr2:178604809;178604808;178604807 | chr2:179469536;179469535;179469534 |
| 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/D | None | None | 1.0 | N | 0.711 | 0.626 | 0.381409048467 | gnomAD-4.0.0 | 1.36943E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79997E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.8177 | likely_pathogenic | 0.7997 | pathogenic | -0.136 | Destabilizing | 1.0 | D | 0.625 | neutral | N | 0.49002338 | None | None | I |
| G/C | 0.8567 | likely_pathogenic | 0.8564 | pathogenic | -0.777 | Destabilizing | 1.0 | D | 0.797 | deleterious | N | 0.516498653 | None | None | I |
| G/D | 0.959 | likely_pathogenic | 0.9569 | pathogenic | -0.25 | Destabilizing | 1.0 | D | 0.711 | prob.delet. | N | 0.50412839 | None | None | I |
| G/E | 0.9767 | likely_pathogenic | 0.9745 | pathogenic | -0.412 | Destabilizing | 1.0 | D | 0.802 | deleterious | None | None | None | None | I |
| G/F | 0.9769 | likely_pathogenic | 0.9791 | pathogenic | -0.932 | Destabilizing | 1.0 | D | 0.787 | deleterious | None | None | None | None | I |
| G/H | 0.9771 | likely_pathogenic | 0.9761 | pathogenic | -0.338 | Destabilizing | 1.0 | D | 0.787 | deleterious | None | None | None | None | I |
| G/I | 0.9791 | likely_pathogenic | 0.981 | pathogenic | -0.352 | Destabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | I |
| G/K | 0.984 | likely_pathogenic | 0.9814 | pathogenic | -0.462 | Destabilizing | 1.0 | D | 0.802 | deleterious | None | None | None | None | I |
| G/L | 0.9673 | likely_pathogenic | 0.9699 | pathogenic | -0.352 | Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | I |
| G/M | 0.9775 | likely_pathogenic | 0.979 | pathogenic | -0.415 | Destabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | I |
| G/N | 0.9261 | likely_pathogenic | 0.9294 | pathogenic | -0.136 | Destabilizing | 1.0 | D | 0.705 | prob.neutral | None | None | None | None | I |
| G/P | 0.9978 | likely_pathogenic | 0.9979 | pathogenic | -0.251 | Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | I |
| G/Q | 0.9656 | likely_pathogenic | 0.9622 | pathogenic | -0.395 | Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | I |
| G/R | 0.9602 | likely_pathogenic | 0.9533 | pathogenic | -0.098 | Destabilizing | 1.0 | D | 0.807 | deleterious | N | 0.491544317 | None | None | I |
| G/S | 0.7082 | likely_pathogenic | 0.6924 | pathogenic | -0.304 | Destabilizing | 1.0 | D | 0.717 | prob.delet. | N | 0.48348924 | None | None | I |
| G/T | 0.9451 | likely_pathogenic | 0.949 | pathogenic | -0.392 | Destabilizing | 1.0 | D | 0.802 | deleterious | None | None | None | None | I |
| G/V | 0.966 | likely_pathogenic | 0.9677 | pathogenic | -0.251 | Destabilizing | 1.0 | D | 0.801 | deleterious | D | 0.522068061 | None | None | I |
| G/W | 0.9764 | likely_pathogenic | 0.978 | pathogenic | -1.063 | Destabilizing | 1.0 | D | 0.79 | deleterious | None | None | None | None | I |
| G/Y | 0.9707 | likely_pathogenic | 0.9713 | pathogenic | -0.709 | Destabilizing | 1.0 | D | 0.779 | 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.