Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 20316 | 61171;61172;61173 | chr2:178590779;178590778;178590777 | chr2:179455506;179455505;179455504 |
| N2AB | 18675 | 56248;56249;56250 | chr2:178590779;178590778;178590777 | chr2:179455506;179455505;179455504 |
| N2A | 17748 | 53467;53468;53469 | chr2:178590779;178590778;178590777 | chr2:179455506;179455505;179455504 |
| N2B | 11251 | 33976;33977;33978 | chr2:178590779;178590778;178590777 | chr2:179455506;179455505;179455504 |
| Novex-1 | 11376 | 34351;34352;34353 | chr2:178590779;178590778;178590777 | chr2:179455506;179455505;179455504 |
| Novex-2 | 11443 | 34552;34553;34554 | chr2:178590779;178590778;178590777 | chr2:179455506;179455505;179455504 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/T | rs554673070  |
0.03 | 1.0 | N | 0.59 | 0.46 | 0.516604699598 | gnomAD-2.1.1 | 7.19E-06 | None | None | None | None | N | None | 8.27E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| K/T | rs554673070 |
0.03 | 1.0 | N | 0.59 | 0.46 | 0.516604699598 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 7.24E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| K/T | rs554673070 |
0.03 | 1.0 | N | 0.59 | 0.46 | 0.516604699598 | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 8E-04 | 0 | None | None | 0 | 0 | None | None | None | 0 | None |
| K/T | rs554673070 |
0.03 | 1.0 | N | 0.59 | 0.46 | 0.516604699598 | gnomAD-4.0.0 | 1.97106E-05 | None | None | None | None | N | None | 7.21605E-05 | 0 | None | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/A | 0.675 | likely_pathogenic | 0.7746 | pathogenic | -0.064 | Destabilizing | 0.999 | D | 0.595 | neutral | None | None | None | None | N |
| K/C | 0.8105 | likely_pathogenic | 0.8802 | pathogenic | -0.597 | Destabilizing | 1.0 | D | 0.736 | prob.delet. | None | None | None | None | N |
| K/D | 0.8233 | likely_pathogenic | 0.8773 | pathogenic | -0.41 | Destabilizing | 1.0 | D | 0.607 | neutral | None | None | None | None | N |
| K/E | 0.4795 | ambiguous | 0.6098 | pathogenic | -0.42 | Destabilizing | 0.999 | D | 0.623 | neutral | N | 0.45719827 | None | None | N |
| K/F | 0.8926 | likely_pathogenic | 0.9431 | pathogenic | -0.433 | Destabilizing | 1.0 | D | 0.707 | prob.neutral | None | None | None | None | N |
| K/G | 0.7354 | likely_pathogenic | 0.8091 | pathogenic | -0.177 | Destabilizing | 1.0 | D | 0.581 | neutral | None | None | None | None | N |
| K/H | 0.4149 | ambiguous | 0.5213 | ambiguous | -0.22 | Destabilizing | 1.0 | D | 0.636 | neutral | None | None | None | None | N |
| K/I | 0.6109 | likely_pathogenic | 0.7097 | pathogenic | 0.153 | Stabilizing | 1.0 | D | 0.701 | prob.neutral | N | 0.499106394 | None | None | N |
| K/L | 0.5854 | likely_pathogenic | 0.694 | pathogenic | 0.153 | Stabilizing | 1.0 | D | 0.581 | neutral | None | None | None | None | N |
| K/M | 0.4791 | ambiguous | 0.6018 | pathogenic | -0.278 | Destabilizing | 1.0 | D | 0.633 | neutral | None | None | None | None | N |
| K/N | 0.6543 | likely_pathogenic | 0.7491 | pathogenic | -0.17 | Destabilizing | 1.0 | D | 0.635 | neutral | N | 0.485174305 | None | None | N |
| K/P | 0.8116 | likely_pathogenic | 0.8532 | pathogenic | 0.102 | Stabilizing | 1.0 | D | 0.592 | neutral | None | None | None | None | N |
| K/Q | 0.2506 | likely_benign | 0.3353 | benign | -0.281 | Destabilizing | 1.0 | D | 0.626 | neutral | N | 0.460740007 | None | None | N |
| K/R | 0.089 | likely_benign | 0.1008 | benign | -0.184 | Destabilizing | 0.999 | D | 0.557 | neutral | N | 0.425936787 | None | None | N |
| K/S | 0.7051 | likely_pathogenic | 0.7916 | pathogenic | -0.492 | Destabilizing | 0.999 | D | 0.585 | neutral | None | None | None | None | N |
| K/T | 0.4535 | ambiguous | 0.557 | ambiguous | -0.392 | Destabilizing | 1.0 | D | 0.59 | neutral | N | 0.457758417 | None | None | N |
| K/V | 0.5998 | likely_pathogenic | 0.7076 | pathogenic | 0.102 | Stabilizing | 1.0 | D | 0.629 | neutral | None | None | None | None | N |
| K/W | 0.8552 | likely_pathogenic | 0.9178 | pathogenic | -0.563 | Destabilizing | 1.0 | D | 0.743 | deleterious | None | None | None | None | N |
| K/Y | 0.7682 | likely_pathogenic | 0.846 | pathogenic | -0.218 | Destabilizing | 1.0 | D | 0.658 | neutral | None | None | 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.