Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 16818 | 50677;50678;50679 | chr2:178611857;178611856;178611855 | chr2:179476584;179476583;179476582 |
| N2AB | 15177 | 45754;45755;45756 | chr2:178611857;178611856;178611855 | chr2:179476584;179476583;179476582 |
| N2A | 14250 | 42973;42974;42975 | chr2:178611857;178611856;178611855 | chr2:179476584;179476583;179476582 |
| N2B | 7753 | 23482;23483;23484 | chr2:178611857;178611856;178611855 | chr2:179476584;179476583;179476582 |
| Novex-1 | 7878 | 23857;23858;23859 | chr2:178611857;178611856;178611855 | chr2:179476584;179476583;179476582 |
| Novex-2 | 7945 | 24058;24059;24060 | chr2:178611857;178611856;178611855 | chr2:179476584;179476583;179476582 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/K | rs397517600  |
-0.118 | 1.0 | D | 0.693 | 0.417 | 0.426551566703 | gnomAD-2.1.1 | 2.57904E-04 | None | None | None | None | N | None | 0 | 8.5E-05 | None | 4.74806E-03 | 0 | None | 0 | None | 0 | 1.17762E-04 | 7.04027E-04 |
| E/K | rs397517600 |
-0.118 | 1.0 | D | 0.693 | 0.417 | 0.426551566703 | gnomAD-3.1.2 | 1.24993E-04 | None | None | None | None | N | None | 0 | 0 | 0 | 4.03226E-03 | 0 | None | 0 | 0 | 4.42E-05 | 0 | 9.56023E-04 |
| E/K | rs397517600 |
-0.118 | 1.0 | D | 0.693 | 0.417 | 0.426551566703 | gnomAD-4.0.0 | 1.22768E-04 | None | None | None | None | N | None | 0 | 6.67445E-05 | None | 4.32725E-03 | 0 | None | 0 | 1.64799E-04 | 3.39192E-05 | 0 | 4.00564E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/A | 0.4989 | ambiguous | 0.5058 | ambiguous | -0.612 | Destabilizing | 0.999 | D | 0.628 | neutral | D | 0.547529951 | None | None | N |
| E/C | 0.9851 | likely_pathogenic | 0.985 | pathogenic | -0.221 | Destabilizing | 1.0 | D | 0.653 | neutral | None | None | None | None | N |
| E/D | 0.7103 | likely_pathogenic | 0.7198 | pathogenic | -0.581 | Destabilizing | 0.999 | D | 0.592 | neutral | D | 0.572997882 | None | None | N |
| E/F | 0.9907 | likely_pathogenic | 0.9919 | pathogenic | -0.367 | Destabilizing | 1.0 | D | 0.617 | neutral | None | None | None | None | N |
| E/G | 0.7542 | likely_pathogenic | 0.7753 | pathogenic | -0.848 | Destabilizing | 1.0 | D | 0.59 | neutral | D | 0.613459654 | None | None | N |
| E/H | 0.9596 | likely_pathogenic | 0.9581 | pathogenic | -0.253 | Destabilizing | 1.0 | D | 0.631 | neutral | None | None | None | None | N |
| E/I | 0.911 | likely_pathogenic | 0.8967 | pathogenic | -0.008 | Destabilizing | 1.0 | D | 0.631 | neutral | None | None | None | None | N |
| E/K | 0.7033 | likely_pathogenic | 0.685 | pathogenic | 0.093 | Stabilizing | 1.0 | D | 0.693 | prob.neutral | D | 0.570806889 | None | None | N |
| E/L | 0.9376 | likely_pathogenic | 0.9352 | pathogenic | -0.008 | Destabilizing | 1.0 | D | 0.62 | neutral | None | None | None | None | N |
| E/M | 0.9427 | likely_pathogenic | 0.9373 | pathogenic | 0.139 | Stabilizing | 1.0 | D | 0.581 | neutral | None | None | None | None | N |
| E/N | 0.9032 | likely_pathogenic | 0.9104 | pathogenic | -0.314 | Destabilizing | 1.0 | D | 0.689 | prob.neutral | None | None | None | None | N |
| E/P | 0.8176 | likely_pathogenic | 0.8225 | pathogenic | -0.189 | Destabilizing | 1.0 | D | 0.602 | neutral | None | None | None | None | N |
| E/Q | 0.5603 | ambiguous | 0.5353 | ambiguous | -0.273 | Destabilizing | 1.0 | D | 0.682 | prob.neutral | N | 0.512862833 | None | None | N |
| E/R | 0.8301 | likely_pathogenic | 0.8151 | pathogenic | 0.336 | Stabilizing | 1.0 | D | 0.682 | prob.neutral | None | None | None | None | N |
| E/S | 0.7275 | likely_pathogenic | 0.7406 | pathogenic | -0.482 | Destabilizing | 0.999 | D | 0.689 | prob.neutral | None | None | None | None | N |
| E/T | 0.8117 | likely_pathogenic | 0.8114 | pathogenic | -0.291 | Destabilizing | 1.0 | D | 0.629 | neutral | None | None | None | None | N |
| E/V | 0.7982 | likely_pathogenic | 0.7683 | pathogenic | -0.189 | Destabilizing | 1.0 | D | 0.599 | neutral | D | 0.572997882 | None | None | N |
| E/W | 0.9969 | likely_pathogenic | 0.9974 | pathogenic | -0.152 | Destabilizing | 1.0 | D | 0.655 | neutral | None | None | None | None | N |
| E/Y | 0.9837 | likely_pathogenic | 0.9859 | pathogenic | -0.114 | Destabilizing | 1.0 | D | 0.592 | 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.