Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 24411 | 73456;73457;73458 | chr2:178572901;178572900;178572899 | chr2:179437628;179437627;179437626 |
| N2AB | 22770 | 68533;68534;68535 | chr2:178572901;178572900;178572899 | chr2:179437628;179437627;179437626 |
| N2A | 21843 | 65752;65753;65754 | chr2:178572901;178572900;178572899 | chr2:179437628;179437627;179437626 |
| N2B | 15346 | 46261;46262;46263 | chr2:178572901;178572900;178572899 | chr2:179437628;179437627;179437626 |
| Novex-1 | 15471 | 46636;46637;46638 | chr2:178572901;178572900;178572899 | chr2:179437628;179437627;179437626 |
| Novex-2 | 15538 | 46837;46838;46839 | chr2:178572901;178572900;178572899 | chr2:179437628;179437627;179437626 |
| 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/D | rs55991022  |
-1.913 | 0.994 | N | 0.777 | 0.546 | 0.660788651602 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.92E-06 | 0 |
| A/D | rs55991022 |
-1.913 | 0.994 | N | 0.777 | 0.546 | 0.660788651602 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | I | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| A/D | rs55991022 |
-1.913 | 0.994 | N | 0.777 | 0.546 | 0.660788651602 | 1000 genomes | 1.99681E-04 | None | None | None | None | I | None | 8E-04 | 0 | None | None | 0 | 0 | None | None | None | 0 | None |
| A/D | rs55991022 |
-1.913 | 0.994 | N | 0.777 | 0.546 | 0.660788651602 | gnomAD-4.0.0 | 1.48757E-05 | None | None | None | None | I | None | 1.33312E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 1.86506E-05 | 0 | 1.60123E-05 |
| A/T | rs772653954 |
-0.775 | 0.988 | N | 0.724 | 0.223 | 0.300784259202 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| A/T | rs772653954 |
-0.775 | 0.988 | N | 0.724 | 0.223 | 0.300784259202 | gnomAD-4.0.0 | 2.05313E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99591E-07 | 2.31884E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.4594 | ambiguous | 0.4943 | ambiguous | -0.607 | Destabilizing | 1.0 | D | 0.784 | deleterious | None | None | None | None | I |
| A/D | 0.8341 | likely_pathogenic | 0.8149 | pathogenic | -1.979 | Destabilizing | 0.994 | D | 0.777 | deleterious | N | 0.508935145 | None | None | I |
| A/E | 0.7754 | likely_pathogenic | 0.7496 | pathogenic | -1.846 | Destabilizing | 0.991 | D | 0.73 | prob.delet. | None | None | None | None | I |
| A/F | 0.6802 | likely_pathogenic | 0.6596 | pathogenic | -0.688 | Destabilizing | 0.998 | D | 0.847 | deleterious | None | None | None | None | I |
| A/G | 0.2109 | likely_benign | 0.2189 | benign | -1.3 | Destabilizing | 0.958 | D | 0.632 | neutral | D | 0.533614118 | None | None | I |
| A/H | 0.8389 | likely_pathogenic | 0.8343 | pathogenic | -1.828 | Destabilizing | 0.999 | D | 0.85 | deleterious | None | None | None | None | I |
| A/I | 0.482 | ambiguous | 0.4378 | ambiguous | 0.123 | Stabilizing | 0.995 | D | 0.767 | deleterious | None | None | None | None | I |
| A/K | 0.9174 | likely_pathogenic | 0.9006 | pathogenic | -1.266 | Destabilizing | 0.938 | D | 0.687 | prob.neutral | None | None | None | None | I |
| A/L | 0.459 | ambiguous | 0.4322 | ambiguous | 0.123 | Stabilizing | 0.968 | D | 0.663 | neutral | None | None | None | None | I |
| A/M | 0.4435 | ambiguous | 0.4211 | ambiguous | 0.141 | Stabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | I |
| A/N | 0.6394 | likely_pathogenic | 0.6403 | pathogenic | -1.294 | Destabilizing | 0.991 | D | 0.793 | deleterious | None | None | None | None | I |
| A/P | 0.9602 | likely_pathogenic | 0.9635 | pathogenic | -0.176 | Destabilizing | 0.998 | D | 0.782 | deleterious | N | 0.508935145 | None | None | I |
| A/Q | 0.7192 | likely_pathogenic | 0.7071 | pathogenic | -1.215 | Destabilizing | 0.991 | D | 0.787 | deleterious | None | None | None | None | I |
| A/R | 0.8617 | likely_pathogenic | 0.8273 | pathogenic | -1.198 | Destabilizing | 0.18 | N | 0.483 | neutral | None | None | None | None | I |
| A/S | 0.1071 | likely_benign | 0.115 | benign | -1.624 | Destabilizing | 0.958 | D | 0.623 | neutral | N | 0.406532668 | None | None | I |
| A/T | 0.1443 | likely_benign | 0.1421 | benign | -1.393 | Destabilizing | 0.988 | D | 0.724 | prob.delet. | N | 0.503637927 | None | None | I |
| A/V | 0.2263 | likely_benign | 0.2039 | benign | -0.176 | Destabilizing | 0.979 | D | 0.701 | prob.neutral | N | 0.479528917 | None | None | I |
| A/W | 0.9569 | likely_pathogenic | 0.9548 | pathogenic | -1.451 | Destabilizing | 1.0 | D | 0.846 | deleterious | None | None | None | None | I |
| A/Y | 0.8222 | likely_pathogenic | 0.8153 | pathogenic | -0.87 | Destabilizing | 1.0 | D | 0.851 | 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.