Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 7197 | 21814;21815;21816 | chr2:178723511;178723510;178723509 | chr2:179588238;179588237;179588236 |
| N2AB | 6880 | 20863;20864;20865 | chr2:178723511;178723510;178723509 | chr2:179588238;179588237;179588236 |
| N2A | 5953 | 18082;18083;18084 | chr2:178723511;178723510;178723509 | chr2:179588238;179588237;179588236 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/L | rs185823757  |
-1.38 | 0.454 | N | 0.329 | 0.161 | 0.381580015636 | gnomAD-2.1.1 | 2.15E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 3.09087E-04 | None | 0 | None | 0 | 0 | 0 |
| F/L | rs185823757 |
-1.38 | 0.454 | N | 0.329 | 0.161 | 0.381580015636 | gnomAD-3.1.2 | 3.29E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 9.65251E-04 | None | 0 | 0 | 0 | 0 | 0 |
| F/L | rs185823757 |
-1.38 | 0.454 | N | 0.329 | 0.161 | 0.381580015636 | 1000 genomes | 5.99042E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 3E-03 | 0 | None | None | None | 0 | None |
| F/L | rs185823757 |
-1.38 | 0.454 | N | 0.329 | 0.161 | 0.381580015636 | gnomAD-4.0.0 | 5.57834E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.00956E-04 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/A | 0.4655 | ambiguous | 0.5073 | ambiguous | -2.042 | Highly Destabilizing | 0.525 | D | 0.425 | neutral | None | None | None | None | N |
| F/C | 0.311 | likely_benign | 0.3788 | ambiguous | -0.54 | Destabilizing | 0.997 | D | 0.481 | neutral | N | 0.48940254 | None | None | N |
| F/D | 0.5777 | likely_pathogenic | 0.6082 | pathogenic | -0.608 | Destabilizing | 0.842 | D | 0.535 | neutral | None | None | None | None | N |
| F/E | 0.6202 | likely_pathogenic | 0.6449 | pathogenic | -0.584 | Destabilizing | 0.842 | D | 0.539 | neutral | None | None | None | None | N |
| F/G | 0.6092 | likely_pathogenic | 0.6582 | pathogenic | -2.33 | Highly Destabilizing | 0.842 | D | 0.523 | neutral | None | None | None | None | N |
| F/H | 0.3552 | ambiguous | 0.3774 | ambiguous | -0.724 | Destabilizing | 0.016 | N | 0.209 | neutral | None | None | None | None | N |
| F/I | 0.2477 | likely_benign | 0.296 | benign | -1.205 | Destabilizing | 0.801 | D | 0.347 | neutral | N | 0.490652774 | None | None | N |
| F/K | 0.6158 | likely_pathogenic | 0.645 | pathogenic | -0.677 | Destabilizing | 0.842 | D | 0.529 | neutral | None | None | None | None | N |
| F/L | 0.7079 | likely_pathogenic | 0.7604 | pathogenic | -1.205 | Destabilizing | 0.454 | N | 0.329 | neutral | N | 0.462580739 | None | None | N |
| F/M | 0.4973 | ambiguous | 0.5541 | ambiguous | -0.677 | Destabilizing | 0.991 | D | 0.397 | neutral | None | None | None | None | N |
| F/N | 0.4252 | ambiguous | 0.4633 | ambiguous | -0.489 | Destabilizing | 0.842 | D | 0.525 | neutral | None | None | None | None | N |
| F/P | 0.9012 | likely_pathogenic | 0.9237 | pathogenic | -1.474 | Destabilizing | 0.974 | D | 0.557 | neutral | None | None | None | None | N |
| F/Q | 0.5107 | ambiguous | 0.545 | ambiguous | -0.687 | Destabilizing | 0.974 | D | 0.554 | neutral | None | None | None | None | N |
| F/R | 0.437 | ambiguous | 0.464 | ambiguous | 0.041 | Stabilizing | 0.949 | D | 0.538 | neutral | None | None | None | None | N |
| F/S | 0.2786 | likely_benign | 0.3083 | benign | -1.265 | Destabilizing | 0.136 | N | 0.258 | neutral | N | 0.467311768 | None | None | N |
| F/T | 0.4458 | ambiguous | 0.4912 | ambiguous | -1.155 | Destabilizing | 0.728 | D | 0.465 | neutral | None | None | None | None | N |
| F/V | 0.2553 | likely_benign | 0.295 | benign | -1.474 | Destabilizing | 0.801 | D | 0.391 | neutral | N | 0.499368258 | None | None | N |
| F/W | 0.3655 | ambiguous | 0.3858 | ambiguous | -0.712 | Destabilizing | 0.974 | D | 0.409 | neutral | None | None | None | None | N |
| F/Y | 0.1023 | likely_benign | 0.1059 | benign | -0.792 | Destabilizing | 0.005 | N | 0.084 | neutral | N | 0.448016718 | 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.