Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 1008 | 3247;3248;3249 | chr2:178782884;178782883;178782882 | chr2:179647611;179647610;179647609 |
| N2AB | 1008 | 3247;3248;3249 | chr2:178782884;178782883;178782882 | chr2:179647611;179647610;179647609 |
| N2A | 1008 | 3247;3248;3249 | chr2:178782884;178782883;178782882 | chr2:179647611;179647610;179647609 |
| N2B | 962 | 3109;3110;3111 | chr2:178782884;178782883;178782882 | chr2:179647611;179647610;179647609 |
| Novex-1 | 962 | 3109;3110;3111 | chr2:178782884;178782883;178782882 | chr2:179647611;179647610;179647609 |
| Novex-2 | 962 | 3109;3110;3111 | chr2:178782884;178782883;178782882 | chr2:179647611;179647610;179647609 |
| Novex-3 | 1008 | 3247;3248;3249 | chr2:178782884;178782883;178782882 | chr2:179647611;179647610;179647609 |
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/D | None | None | 0.999 | N | 0.464 | 0.305 | 0.31077124679 | gnomAD-4.0.0 | 1.36821E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79865E-06 | 0 | 0 |
| E/K | rs756356686  |
0.799 | 0.999 | D | 0.623 | 0.465 | 0.561981951463 | gnomAD-2.1.1 | 3.99E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| E/K | rs756356686 |
0.799 | 0.999 | D | 0.623 | 0.465 | 0.561981951463 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 0 | 6.54E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| E/K | rs756356686 |
0.799 | 0.999 | D | 0.623 | 0.465 | 0.561981951463 | gnomAD-4.0.0 | 2.56143E-06 | None | None | None | None | I | None | 0 | 1.69446E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 1.34002E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/A | 0.8636 | likely_pathogenic | 0.8517 | pathogenic | -0.065 | Destabilizing | 0.999 | D | 0.655 | neutral | N | 0.49241112 | None | None | I |
| E/C | 0.9974 | likely_pathogenic | 0.9974 | pathogenic | 0.008 | Stabilizing | 1.0 | D | 0.738 | prob.delet. | None | None | None | None | I |
| E/D | 0.8738 | likely_pathogenic | 0.8486 | pathogenic | -0.233 | Destabilizing | 0.999 | D | 0.464 | neutral | N | 0.497720725 | None | None | I |
| E/F | 0.9983 | likely_pathogenic | 0.9982 | pathogenic | -0.107 | Destabilizing | 1.0 | D | 0.698 | prob.neutral | None | None | None | None | I |
| E/G | 0.8623 | likely_pathogenic | 0.8576 | pathogenic | -0.186 | Destabilizing | 1.0 | D | 0.644 | neutral | D | 0.528426259 | None | None | I |
| E/H | 0.9938 | likely_pathogenic | 0.9928 | pathogenic | 0.359 | Stabilizing | 1.0 | D | 0.687 | prob.neutral | None | None | None | None | I |
| E/I | 0.9886 | likely_pathogenic | 0.9876 | pathogenic | 0.198 | Stabilizing | 1.0 | D | 0.726 | prob.delet. | None | None | None | None | I |
| E/K | 0.9182 | likely_pathogenic | 0.912 | pathogenic | 0.551 | Stabilizing | 0.999 | D | 0.623 | neutral | D | 0.524986344 | None | None | I |
| E/L | 0.9884 | likely_pathogenic | 0.9871 | pathogenic | 0.198 | Stabilizing | 1.0 | D | 0.706 | prob.neutral | None | None | None | None | I |
| E/M | 0.9863 | likely_pathogenic | 0.9859 | pathogenic | 0.117 | Stabilizing | 1.0 | D | 0.673 | neutral | None | None | None | None | I |
| E/N | 0.9817 | likely_pathogenic | 0.9787 | pathogenic | 0.294 | Stabilizing | 1.0 | D | 0.722 | prob.delet. | None | None | None | None | I |
| E/P | 0.9935 | likely_pathogenic | 0.9922 | pathogenic | 0.129 | Stabilizing | 1.0 | D | 0.67 | neutral | None | None | None | None | I |
| E/Q | 0.8664 | likely_pathogenic | 0.8482 | pathogenic | 0.311 | Stabilizing | 1.0 | D | 0.619 | neutral | D | 0.525478702 | None | None | I |
| E/R | 0.9469 | likely_pathogenic | 0.9413 | pathogenic | 0.692 | Stabilizing | 1.0 | D | 0.711 | prob.delet. | None | None | None | None | I |
| E/S | 0.9147 | likely_pathogenic | 0.9063 | pathogenic | 0.168 | Stabilizing | 0.999 | D | 0.678 | prob.neutral | None | None | None | None | I |
| E/T | 0.96 | likely_pathogenic | 0.9588 | pathogenic | 0.278 | Stabilizing | 1.0 | D | 0.687 | prob.neutral | None | None | None | None | I |
| E/V | 0.9608 | likely_pathogenic | 0.9574 | pathogenic | 0.129 | Stabilizing | 1.0 | D | 0.693 | prob.neutral | D | 0.596337722 | None | None | I |
| E/W | 0.9988 | likely_pathogenic | 0.9987 | pathogenic | -0.051 | Destabilizing | 1.0 | D | 0.74 | deleterious | None | None | None | None | I |
| E/Y | 0.9966 | likely_pathogenic | 0.9962 | pathogenic | 0.121 | Stabilizing | 1.0 | D | 0.692 | prob.neutral | None | None | None | None | I |
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.