Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 21188 | 63787;63788;63789 | chr2:178587747;178587746;178587745 | chr2:179452474;179452473;179452472 |
| N2AB | 19547 | 58864;58865;58866 | chr2:178587747;178587746;178587745 | chr2:179452474;179452473;179452472 |
| N2A | 18620 | 56083;56084;56085 | chr2:178587747;178587746;178587745 | chr2:179452474;179452473;179452472 |
| N2B | 12123 | 36592;36593;36594 | chr2:178587747;178587746;178587745 | chr2:179452474;179452473;179452472 |
| Novex-1 | 12248 | 36967;36968;36969 | chr2:178587747;178587746;178587745 | chr2:179452474;179452473;179452472 |
| Novex-2 | 12315 | 37168;37169;37170 | chr2:178587747;178587746;178587745 | chr2:179452474;179452473;179452472 |
| 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/G | rs746456662  |
-0.248 | 0.067 | D | 0.369 | 0.371 | 0.212008924253 | gnomAD-2.1.1 | 4.05E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.96E-06 | 0 |
| A/G | rs746456662 |
-0.248 | 0.067 | D | 0.369 | 0.371 | 0.212008924253 | gnomAD-4.0.0 | 1.59493E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86411E-06 | 0 | 0 |
| A/P | None | None | 0.998 | N | 0.735 | 0.463 | 0.273070737957 | gnomAD-4.0.0 | 1.36986E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.80019E-06 | 0 | 0 |
| A/T | None | None | 0.994 | N | 0.732 | 0.401 | 0.227260227426 | gnomAD-4.0.0 | 6.84928E-07 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 1.6587E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.6968 | likely_pathogenic | 0.7507 | pathogenic | -0.745 | Destabilizing | 1.0 | D | 0.734 | prob.delet. | None | None | None | None | I |
| A/D | 0.8563 | likely_pathogenic | 0.9066 | pathogenic | -0.613 | Destabilizing | 0.991 | D | 0.747 | deleterious | None | None | None | None | I |
| A/E | 0.7791 | likely_pathogenic | 0.847 | pathogenic | -0.77 | Destabilizing | 0.994 | D | 0.741 | deleterious | N | 0.509826741 | None | None | I |
| A/F | 0.8634 | likely_pathogenic | 0.8957 | pathogenic | -1.066 | Destabilizing | 0.998 | D | 0.784 | deleterious | None | None | None | None | I |
| A/G | 0.3712 | ambiguous | 0.3856 | ambiguous | -0.503 | Destabilizing | 0.067 | N | 0.369 | neutral | D | 0.523553685 | None | None | I |
| A/H | 0.7982 | likely_pathogenic | 0.8603 | pathogenic | -0.539 | Destabilizing | 1.0 | D | 0.755 | deleterious | None | None | None | None | I |
| A/I | 0.8358 | likely_pathogenic | 0.876 | pathogenic | -0.456 | Destabilizing | 0.998 | D | 0.735 | prob.delet. | None | None | None | None | I |
| A/K | 0.8939 | likely_pathogenic | 0.9299 | pathogenic | -0.687 | Destabilizing | 0.991 | D | 0.741 | deleterious | None | None | None | None | I |
| A/L | 0.7496 | likely_pathogenic | 0.7949 | pathogenic | -0.456 | Destabilizing | 0.995 | D | 0.701 | prob.neutral | None | None | None | None | I |
| A/M | 0.7179 | likely_pathogenic | 0.7861 | pathogenic | -0.322 | Destabilizing | 1.0 | D | 0.719 | prob.delet. | None | None | None | None | I |
| A/N | 0.6648 | likely_pathogenic | 0.7659 | pathogenic | -0.338 | Destabilizing | 0.991 | D | 0.754 | deleterious | None | None | None | None | I |
| A/P | 0.9462 | likely_pathogenic | 0.945 | pathogenic | -0.415 | Destabilizing | 0.998 | D | 0.735 | prob.delet. | N | 0.476531847 | None | None | I |
| A/Q | 0.6873 | likely_pathogenic | 0.7765 | pathogenic | -0.665 | Destabilizing | 0.998 | D | 0.759 | deleterious | None | None | None | None | I |
| A/R | 0.824 | likely_pathogenic | 0.865 | pathogenic | -0.185 | Destabilizing | 0.995 | D | 0.743 | deleterious | None | None | None | None | I |
| A/S | 0.1258 | likely_benign | 0.1445 | benign | -0.558 | Destabilizing | 0.958 | D | 0.519 | neutral | N | 0.462137349 | None | None | I |
| A/T | 0.4392 | ambiguous | 0.5127 | ambiguous | -0.639 | Destabilizing | 0.994 | D | 0.732 | prob.delet. | N | 0.490192331 | None | None | I |
| A/V | 0.5122 | ambiguous | 0.584 | pathogenic | -0.415 | Destabilizing | 0.979 | D | 0.692 | prob.neutral | N | 0.454891966 | None | None | I |
| A/W | 0.9705 | likely_pathogenic | 0.9775 | pathogenic | -1.185 | Destabilizing | 1.0 | D | 0.781 | deleterious | None | None | None | None | I |
| A/Y | 0.8833 | likely_pathogenic | 0.9199 | pathogenic | -0.837 | Destabilizing | 1.0 | D | 0.774 | 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.