Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 8815 | 26668;26669;26670 | chr2:178714331;178714330;178714329 | chr2:179579058;179579057;179579056 |
| N2AB | 8498 | 25717;25718;25719 | chr2:178714331;178714330;178714329 | chr2:179579058;179579057;179579056 |
| N2A | 7571 | 22936;22937;22938 | chr2:178714331;178714330;178714329 | chr2:179579058;179579057;179579056 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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 | rs1168744166  |
-0.041 | 0.998 | N | 0.606 | 0.471 | 0.442875378763 | gnomAD-2.1.1 | 7.15E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.56E-05 | 0 |
| A/G | rs1168744166 |
-0.041 | 0.998 | N | 0.606 | 0.471 | 0.442875378763 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 4.77555E-04 |
| A/G | rs1168744166 |
-0.041 | 0.998 | N | 0.606 | 0.471 | 0.442875378763 | gnomAD-4.0.0 | 8.96895E-06 | None | None | None | None | I | None | 1.68856E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 9.57648E-06 | 0 | 5.68408E-05 |
| A/V | rs1168744166 |
0.004 | 1.0 | N | 0.678 | 0.404 | 0.45235992198 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| A/V | rs1168744166 |
0.004 | 1.0 | N | 0.678 | 0.404 | 0.45235992198 | gnomAD-4.0.0 | 3.18348E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 2.8659E-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 | 0.606 | likely_pathogenic | 0.6284 | pathogenic | -0.797 | Destabilizing | 1.0 | D | 0.749 | deleterious | None | None | None | None | I |
| A/D | 0.6552 | likely_pathogenic | 0.7635 | pathogenic | -0.649 | Destabilizing | 1.0 | D | 0.807 | deleterious | D | 0.545809354 | None | None | I |
| A/E | 0.6287 | likely_pathogenic | 0.7287 | pathogenic | -0.801 | Destabilizing | 1.0 | D | 0.745 | deleterious | None | None | None | None | I |
| A/F | 0.3986 | ambiguous | 0.4418 | ambiguous | -0.938 | Destabilizing | 1.0 | D | 0.806 | deleterious | None | None | None | None | I |
| A/G | 0.1447 | likely_benign | 0.1699 | benign | -0.203 | Destabilizing | 0.998 | D | 0.606 | neutral | N | 0.498356216 | None | None | I |
| A/H | 0.7239 | likely_pathogenic | 0.7928 | pathogenic | -0.199 | Destabilizing | 1.0 | D | 0.782 | deleterious | None | None | None | None | I |
| A/I | 0.379 | ambiguous | 0.433 | ambiguous | -0.414 | Destabilizing | 1.0 | D | 0.737 | prob.delet. | None | None | None | None | I |
| A/K | 0.8177 | likely_pathogenic | 0.8921 | pathogenic | -0.547 | Destabilizing | 1.0 | D | 0.743 | deleterious | None | None | None | None | I |
| A/L | 0.35 | ambiguous | 0.4046 | ambiguous | -0.414 | Destabilizing | 1.0 | D | 0.677 | prob.neutral | None | None | None | None | I |
| A/M | 0.3487 | ambiguous | 0.4268 | ambiguous | -0.565 | Destabilizing | 1.0 | D | 0.733 | prob.delet. | None | None | None | None | I |
| A/N | 0.5135 | ambiguous | 0.6294 | pathogenic | -0.216 | Destabilizing | 1.0 | D | 0.816 | deleterious | None | None | None | None | I |
| A/P | 0.8915 | likely_pathogenic | 0.9317 | pathogenic | -0.322 | Destabilizing | 1.0 | D | 0.751 | deleterious | D | 0.545809354 | None | None | I |
| A/Q | 0.6682 | likely_pathogenic | 0.7529 | pathogenic | -0.495 | Destabilizing | 1.0 | D | 0.749 | deleterious | None | None | None | None | I |
| A/R | 0.6888 | likely_pathogenic | 0.7833 | pathogenic | -0.103 | Destabilizing | 1.0 | D | 0.751 | deleterious | None | None | None | None | I |
| A/S | 0.1193 | likely_benign | 0.1327 | benign | -0.378 | Destabilizing | 0.997 | D | 0.637 | neutral | N | 0.497849237 | None | None | I |
| A/T | 0.1497 | likely_benign | 0.1878 | benign | -0.465 | Destabilizing | 1.0 | D | 0.715 | prob.delet. | D | 0.531157685 | None | None | I |
| A/V | 0.1729 | likely_benign | 0.1992 | benign | -0.322 | Destabilizing | 1.0 | D | 0.678 | prob.neutral | N | 0.496656027 | None | None | I |
| A/W | 0.8545 | likely_pathogenic | 0.8901 | pathogenic | -1.032 | Destabilizing | 1.0 | D | 0.798 | deleterious | None | None | None | None | I |
| A/Y | 0.6323 | likely_pathogenic | 0.6794 | pathogenic | -0.72 | Destabilizing | 1.0 | D | 0.797 | 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.