Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 27224 | 81895;81896;81897 | chr2:178564462;178564461;178564460 | chr2:179429189;179429188;179429187 |
| N2AB | 25583 | 76972;76973;76974 | chr2:178564462;178564461;178564460 | chr2:179429189;179429188;179429187 |
| N2A | 24656 | 74191;74192;74193 | chr2:178564462;178564461;178564460 | chr2:179429189;179429188;179429187 |
| N2B | 18159 | 54700;54701;54702 | chr2:178564462;178564461;178564460 | chr2:179429189;179429188;179429187 |
| Novex-1 | 18284 | 55075;55076;55077 | chr2:178564462;178564461;178564460 | chr2:179429189;179429188;179429187 |
| Novex-2 | 18351 | 55276;55277;55278 | chr2:178564462;178564461;178564460 | chr2:179429189;179429188;179429187 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/S | rs368443217  |
-0.782 | 0.999 | N | 0.59 | 0.4 | None | gnomAD-2.1.1 | 9.08E-05 | None | None | None | None | N | None | 4.17E-05 | 5.74E-05 | None | 0 | 0 | None | 0 | None | 0 | 1.75907E-04 | 0 |
| N/S | rs368443217 |
-0.782 | 0.999 | N | 0.59 | 0.4 | None | gnomAD-3.1.2 | 1.18298E-04 | None | None | None | None | N | None | 4.82E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.35294E-04 | 0 | 0 |
| N/S | rs368443217 |
-0.782 | 0.999 | N | 0.59 | 0.4 | None | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 0 | 1E-03 | None | None | None | 0 | None |
| N/S | rs368443217 |
-0.782 | 0.999 | N | 0.59 | 0.4 | None | gnomAD-4.0.0 | 1.77392E-04 | None | None | None | None | N | None | 2.66553E-05 | 8.37072E-05 | None | 0 | 0 | None | 0 | 0 | 2.21373E-04 | 0 | 2.88406E-04 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/A | 0.5199 | ambiguous | 0.467 | ambiguous | -0.453 | Destabilizing | 1.0 | D | 0.721 | prob.delet. | None | None | None | None | N |
| N/C | 0.6465 | likely_pathogenic | 0.614 | pathogenic | 0.283 | Stabilizing | 1.0 | D | 0.783 | deleterious | None | None | None | None | N |
| N/D | 0.5009 | ambiguous | 0.4492 | ambiguous | 0.377 | Stabilizing | 0.999 | D | 0.627 | neutral | N | 0.511168827 | None | None | N |
| N/E | 0.8833 | likely_pathogenic | 0.8526 | pathogenic | 0.364 | Stabilizing | 0.999 | D | 0.733 | prob.delet. | None | None | None | None | N |
| N/F | 0.8807 | likely_pathogenic | 0.8484 | pathogenic | -0.698 | Destabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | N |
| N/G | 0.6583 | likely_pathogenic | 0.6009 | pathogenic | -0.655 | Destabilizing | 0.999 | D | 0.574 | neutral | None | None | None | None | N |
| N/H | 0.3387 | likely_benign | 0.3043 | benign | -0.603 | Destabilizing | 1.0 | D | 0.753 | deleterious | N | 0.512035619 | None | None | N |
| N/I | 0.5307 | ambiguous | 0.4745 | ambiguous | -0.001 | Destabilizing | 1.0 | D | 0.831 | deleterious | N | 0.504048067 | None | None | N |
| N/K | 0.8729 | likely_pathogenic | 0.8325 | pathogenic | 0.182 | Stabilizing | 1.0 | D | 0.757 | deleterious | N | 0.507205802 | None | None | N |
| N/L | 0.4871 | ambiguous | 0.4499 | ambiguous | -0.001 | Destabilizing | 1.0 | D | 0.792 | deleterious | None | None | None | None | N |
| N/M | 0.6369 | likely_pathogenic | 0.5879 | pathogenic | 0.358 | Stabilizing | 1.0 | D | 0.775 | deleterious | None | None | None | None | N |
| N/P | 0.7016 | likely_pathogenic | 0.6986 | pathogenic | -0.124 | Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | N |
| N/Q | 0.7982 | likely_pathogenic | 0.7609 | pathogenic | -0.326 | Destabilizing | 1.0 | D | 0.763 | deleterious | None | None | None | None | N |
| N/R | 0.8552 | likely_pathogenic | 0.8208 | pathogenic | 0.194 | Stabilizing | 1.0 | D | 0.749 | deleterious | None | None | None | None | N |
| N/S | 0.1523 | likely_benign | 0.136 | benign | -0.201 | Destabilizing | 0.999 | D | 0.59 | neutral | N | 0.515382569 | None | None | N |
| N/T | 0.3121 | likely_benign | 0.2773 | benign | -0.049 | Destabilizing | 0.999 | D | 0.722 | prob.delet. | N | 0.49475658 | None | None | N |
| N/V | 0.4485 | ambiguous | 0.4048 | ambiguous | -0.124 | Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | N |
| N/W | 0.9552 | likely_pathogenic | 0.9487 | pathogenic | -0.592 | Destabilizing | 1.0 | D | 0.765 | deleterious | None | None | None | None | N |
| N/Y | 0.4955 | ambiguous | 0.4454 | ambiguous | -0.347 | Destabilizing | 1.0 | D | 0.799 | deleterious | N | 0.494094622 | None | None | N |
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.