Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 16057 | 48394;48395;48396 | chr2:178616622;178616621;178616620 | chr2:179481349;179481348;179481347 |
| N2AB | 14416 | 43471;43472;43473 | chr2:178616622;178616621;178616620 | chr2:179481349;179481348;179481347 |
| N2A | 13489 | 40690;40691;40692 | chr2:178616622;178616621;178616620 | chr2:179481349;179481348;179481347 |
| N2B | 6992 | 21199;21200;21201 | chr2:178616622;178616621;178616620 | chr2:179481349;179481348;179481347 |
| Novex-1 | 7117 | 21574;21575;21576 | chr2:178616622;178616621;178616620 | chr2:179481349;179481348;179481347 |
| Novex-2 | 7184 | 21775;21776;21777 | chr2:178616622;178616621;178616620 | chr2:179481349;179481348;179481347 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/G | rs886042119  |
None | 0.026 | N | 0.364 | 0.093 | 0.15556083564 | gnomAD-4.0.0 | 2.73938E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.7001E-06 | 1.16066E-05 | 0 |
| S/R | rs886042119 |
None | 0.984 | D | 0.621 | 0.388 | 0.379020345274 | gnomAD-3.1.2 | 6.59E-06 | None | None | None | None | N | None | 2.42E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| S/R | rs886042119 |
None | 0.984 | D | 0.621 | 0.388 | 0.379020345274 | gnomAD-4.0.0 | 2.56759E-06 | None | None | None | None | N | None | 1.69526E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 2.85225E-05 |
| S/T | rs548796322 |
-0.63 | 0.946 | D | 0.5 | 0.274 | 0.269111216191 | gnomAD-3.1.2 | 6.59E-06 | None | None | None | None | N | None | 0 | 6.58E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| S/T | rs548796322 |
-0.63 | 0.946 | D | 0.5 | 0.274 | 0.269111216191 | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 1.4E-03 | None | None | 0 | 0 | None | None | None | 0 | None |
| S/T | rs548796322 |
-0.63 | 0.946 | D | 0.5 | 0.274 | 0.269111216191 | gnomAD-4.0.0 | 2.03042E-06 | None | None | None | None | N | None | 0 | 6.16827E-05 | None | 0 | 0 | None | 0 | 0 | 1.20515E-06 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.1017 | likely_benign | 0.1103 | benign | -0.457 | Destabilizing | 0.702 | D | 0.536 | neutral | None | None | None | None | N |
| S/C | 0.1867 | likely_benign | 0.2055 | benign | -0.59 | Destabilizing | 0.999 | D | 0.652 | neutral | D | 0.660757392 | None | None | N |
| S/D | 0.5914 | likely_pathogenic | 0.6311 | pathogenic | -1.454 | Destabilizing | 0.959 | D | 0.535 | neutral | None | None | None | None | N |
| S/E | 0.7746 | likely_pathogenic | 0.809 | pathogenic | -1.445 | Destabilizing | 0.919 | D | 0.533 | neutral | None | None | None | None | N |
| S/F | 0.5265 | ambiguous | 0.6048 | pathogenic | -0.707 | Destabilizing | 0.996 | D | 0.728 | prob.delet. | None | None | None | None | N |
| S/G | 0.0831 | likely_benign | 0.0864 | benign | -0.697 | Destabilizing | 0.026 | N | 0.364 | neutral | N | 0.473998774 | None | None | N |
| S/H | 0.6276 | likely_pathogenic | 0.6714 | pathogenic | -1.262 | Destabilizing | 0.999 | D | 0.649 | neutral | None | None | None | None | N |
| S/I | 0.5598 | ambiguous | 0.6278 | pathogenic | 0.075 | Stabilizing | 0.984 | D | 0.713 | prob.delet. | D | 0.660757392 | None | None | N |
| S/K | 0.8096 | likely_pathogenic | 0.8457 | pathogenic | -0.819 | Destabilizing | 0.919 | D | 0.542 | neutral | None | None | None | None | N |
| S/L | 0.2187 | likely_benign | 0.2596 | benign | 0.075 | Stabilizing | 0.976 | D | 0.693 | prob.neutral | None | None | None | None | N |
| S/M | 0.4214 | ambiguous | 0.479 | ambiguous | 0.388 | Stabilizing | 0.999 | D | 0.65 | neutral | None | None | None | None | N |
| S/N | 0.3246 | likely_benign | 0.3392 | benign | -1.016 | Destabilizing | 0.896 | D | 0.559 | neutral | D | 0.617394566 | None | None | N |
| S/P | 0.8357 | likely_pathogenic | 0.88 | pathogenic | -0.069 | Destabilizing | 0.034 | N | 0.504 | neutral | None | None | None | None | N |
| S/Q | 0.7298 | likely_pathogenic | 0.7668 | pathogenic | -1.241 | Destabilizing | 0.988 | D | 0.549 | neutral | None | None | None | None | N |
| S/R | 0.7533 | likely_pathogenic | 0.782 | pathogenic | -0.627 | Destabilizing | 0.984 | D | 0.621 | neutral | D | 0.658289367 | None | None | N |
| S/T | 0.1862 | likely_benign | 0.2152 | benign | -0.821 | Destabilizing | 0.946 | D | 0.5 | neutral | D | 0.554318687 | None | None | N |
| S/V | 0.4888 | ambiguous | 0.5581 | ambiguous | -0.069 | Destabilizing | 0.988 | D | 0.682 | prob.neutral | None | None | None | None | N |
| S/W | 0.7108 | likely_pathogenic | 0.772 | pathogenic | -0.802 | Destabilizing | 0.999 | D | 0.786 | deleterious | None | None | None | None | N |
| S/Y | 0.5119 | ambiguous | 0.569 | pathogenic | -0.463 | Destabilizing | 0.996 | D | 0.738 | prob.delet. | 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.