Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 29021 | 87286;87287;87288 | chr2:178558398;178558397;178558396 | chr2:179423125;179423124;179423123 |
| N2AB | 27380 | 82363;82364;82365 | chr2:178558398;178558397;178558396 | chr2:179423125;179423124;179423123 |
| N2A | 26453 | 79582;79583;79584 | chr2:178558398;178558397;178558396 | chr2:179423125;179423124;179423123 |
| N2B | 19956 | 60091;60092;60093 | chr2:178558398;178558397;178558396 | chr2:179423125;179423124;179423123 |
| Novex-1 | 20081 | 60466;60467;60468 | chr2:178558398;178558397;178558396 | chr2:179423125;179423124;179423123 |
| Novex-2 | 20148 | 60667;60668;60669 | chr2:178558398;178558397;178558396 | chr2:179423125;179423124;179423123 |
| 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/P | rs1237183961  |
-0.154 | 1.0 | N | 0.805 | 0.472 | 0.493156425868 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.89E-06 | 0 |
| A/P | rs1237183961 |
-0.154 | 1.0 | N | 0.805 | 0.472 | 0.493156425868 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 0 |
| A/V | rs1702326803 |
None | 1.0 | N | 0.715 | 0.417 | 0.453401982733 | gnomAD-4.0.0 | 3.18317E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 5.56174E-05 | None | 0 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.4759 | ambiguous | 0.5065 | ambiguous | -0.707 | Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | I |
| A/D | 0.7497 | likely_pathogenic | 0.7833 | pathogenic | -0.833 | Destabilizing | 1.0 | D | 0.853 | deleterious | N | 0.478218866 | None | None | I |
| A/E | 0.6 | likely_pathogenic | 0.647 | pathogenic | -1.003 | Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | I |
| A/F | 0.4417 | ambiguous | 0.4812 | ambiguous | -1.012 | Destabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | I |
| A/G | 0.2095 | likely_benign | 0.2206 | benign | -0.371 | Destabilizing | 1.0 | D | 0.599 | neutral | D | 0.523732693 | None | None | I |
| A/H | 0.6547 | likely_pathogenic | 0.6981 | pathogenic | -0.37 | Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | I |
| A/I | 0.3759 | ambiguous | 0.4348 | ambiguous | -0.438 | Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | I |
| A/K | 0.7519 | likely_pathogenic | 0.7957 | pathogenic | -0.719 | Destabilizing | 1.0 | D | 0.792 | deleterious | None | None | None | None | I |
| A/L | 0.3696 | ambiguous | 0.4146 | ambiguous | -0.438 | Destabilizing | 1.0 | D | 0.741 | deleterious | None | None | None | None | I |
| A/M | 0.3346 | likely_benign | 0.3856 | ambiguous | -0.381 | Destabilizing | 1.0 | D | 0.802 | deleterious | None | None | None | None | I |
| A/N | 0.5207 | ambiguous | 0.5382 | ambiguous | -0.331 | Destabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | I |
| A/P | 0.9326 | likely_pathogenic | 0.9453 | pathogenic | -0.371 | Destabilizing | 1.0 | D | 0.805 | deleterious | N | 0.516201803 | None | None | I |
| A/Q | 0.5831 | likely_pathogenic | 0.6209 | pathogenic | -0.687 | Destabilizing | 1.0 | D | 0.808 | deleterious | None | None | None | None | I |
| A/R | 0.6767 | likely_pathogenic | 0.7259 | pathogenic | -0.144 | Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | I |
| A/S | 0.1414 | likely_benign | 0.1387 | benign | -0.475 | Destabilizing | 1.0 | D | 0.613 | neutral | N | 0.495490086 | None | None | I |
| A/T | 0.1739 | likely_benign | 0.1962 | benign | -0.581 | Destabilizing | 1.0 | D | 0.783 | deleterious | N | 0.516769435 | None | None | I |
| A/V | 0.1633 | likely_benign | 0.1902 | benign | -0.371 | Destabilizing | 1.0 | D | 0.715 | prob.delet. | N | 0.459798645 | None | None | I |
| A/W | 0.872 | likely_pathogenic | 0.8982 | pathogenic | -1.117 | Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | I |
| A/Y | 0.6152 | likely_pathogenic | 0.6577 | pathogenic | -0.79 | Destabilizing | 1.0 | D | 0.857 | 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.