Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2577 | 7954;7955;7956 | chr2:178773235;178773234;178773233 | chr2:179637962;179637961;179637960 |
| N2AB | 2577 | 7954;7955;7956 | chr2:178773235;178773234;178773233 | chr2:179637962;179637961;179637960 |
| N2A | 2577 | 7954;7955;7956 | chr2:178773235;178773234;178773233 | chr2:179637962;179637961;179637960 |
| N2B | 2531 | 7816;7817;7818 | chr2:178773235;178773234;178773233 | chr2:179637962;179637961;179637960 |
| Novex-1 | 2531 | 7816;7817;7818 | chr2:178773235;178773234;178773233 | chr2:179637962;179637961;179637960 |
| Novex-2 | 2531 | 7816;7817;7818 | chr2:178773235;178773234;178773233 | chr2:179637962;179637961;179637960 |
| Novex-3 | 2577 | 7954;7955;7956 | chr2:178773235;178773234;178773233 | chr2:179637962;179637961;179637960 |
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/Q | None | None | 1.0 | D | 0.703 | 0.305 | 0.236890367714 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 6.07533E-05 | 0 |
| K/R | rs1312348465  |
-0.358 | 0.999 | N | 0.525 | 0.257 | 0.288727942641 | gnomAD-2.1.1 | 7.99E-06 | None | None | None | None | N | None | 0 | 5.8E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| K/R | rs1312348465 |
-0.358 | 0.999 | N | 0.525 | 0.257 | 0.288727942641 | gnomAD-4.0.0 | 9.54651E-06 | None | None | None | None | N | None | 0 | 1.14432E-04 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.02316E-05 |
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 | 0.692 | likely_pathogenic | 0.6471 | pathogenic | -0.583 | Destabilizing | 0.999 | D | 0.619 | neutral | None | None | None | None | N |
| K/C | 0.9145 | likely_pathogenic | 0.8915 | pathogenic | -0.557 | Destabilizing | 1.0 | D | 0.691 | prob.neutral | None | None | None | None | N |
| K/D | 0.8101 | likely_pathogenic | 0.7851 | pathogenic | 0.184 | Stabilizing | 1.0 | D | 0.72 | prob.delet. | None | None | None | None | N |
| K/E | 0.4999 | ambiguous | 0.4234 | ambiguous | 0.297 | Stabilizing | 0.999 | D | 0.51 | neutral | D | 0.56068006 | None | None | N |
| K/F | 0.9409 | likely_pathogenic | 0.9234 | pathogenic | -0.364 | Destabilizing | 1.0 | D | 0.714 | prob.delet. | None | None | None | None | N |
| K/G | 0.8001 | likely_pathogenic | 0.765 | pathogenic | -0.929 | Destabilizing | 1.0 | D | 0.678 | prob.neutral | None | None | None | None | N |
| K/H | 0.5739 | likely_pathogenic | 0.5194 | ambiguous | -1.207 | Destabilizing | 1.0 | D | 0.68 | prob.neutral | None | None | None | None | N |
| K/I | 0.6501 | likely_pathogenic | 0.5793 | pathogenic | 0.306 | Stabilizing | 1.0 | D | 0.704 | prob.neutral | D | 0.585204532 | None | None | N |
| K/L | 0.6504 | likely_pathogenic | 0.6024 | pathogenic | 0.306 | Stabilizing | 1.0 | D | 0.678 | prob.neutral | None | None | None | None | N |
| K/M | 0.5592 | ambiguous | 0.4811 | ambiguous | 0.113 | Stabilizing | 1.0 | D | 0.676 | prob.neutral | None | None | None | None | N |
| K/N | 0.6942 | likely_pathogenic | 0.6498 | pathogenic | -0.32 | Destabilizing | 1.0 | D | 0.725 | prob.delet. | N | 0.508574834 | None | None | N |
| K/P | 0.918 | likely_pathogenic | 0.9046 | pathogenic | 0.04 | Stabilizing | 1.0 | D | 0.689 | prob.neutral | None | None | None | None | N |
| K/Q | 0.3281 | likely_benign | 0.2803 | benign | -0.342 | Destabilizing | 1.0 | D | 0.703 | prob.neutral | D | 0.532821979 | None | None | N |
| K/R | 0.1149 | likely_benign | 0.1009 | benign | -0.424 | Destabilizing | 0.999 | D | 0.525 | neutral | N | 0.428067442 | None | None | N |
| K/S | 0.74 | likely_pathogenic | 0.7013 | pathogenic | -1.009 | Destabilizing | 0.999 | D | 0.623 | neutral | None | None | None | None | N |
| K/T | 0.4224 | ambiguous | 0.3569 | ambiguous | -0.681 | Destabilizing | 1.0 | D | 0.711 | prob.delet. | D | 0.544401296 | None | None | N |
| K/V | 0.6515 | likely_pathogenic | 0.5922 | pathogenic | 0.04 | Stabilizing | 1.0 | D | 0.679 | prob.neutral | None | None | None | None | N |
| K/W | 0.9395 | likely_pathogenic | 0.9207 | pathogenic | -0.251 | Destabilizing | 1.0 | D | 0.703 | prob.neutral | None | None | None | None | N |
| K/Y | 0.8652 | likely_pathogenic | 0.8277 | pathogenic | 0.049 | Stabilizing | 1.0 | D | 0.682 | prob.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.