Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 8575 | 25948;25949;25950 | chr2:178715691;178715690;178715689 | chr2:179580418;179580417;179580416 |
| N2AB | 8258 | 24997;24998;24999 | chr2:178715691;178715690;178715689 | chr2:179580418;179580417;179580416 |
| N2A | 7331 | 22216;22217;22218 | chr2:178715691;178715690;178715689 | chr2:179580418;179580417;179580416 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/E | None | None | 1.0 | D | 0.823 | 0.864 | 0.713204199129 | gnomAD-4.0.0 | 1.59856E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 1.88829E-05 | 0 | 0 | 0 | 0 |
| G/R | rs397517517  |
-0.425 | 1.0 | D | 0.809 | 0.819 | 0.816574466228 | gnomAD-2.1.1 | 8.25E-06 | None | None | None | None | I | None | 0 | 2.96E-05 | None | 0 | 0 | None | 0 | None | 0 | 9.16E-06 | 0 |
| G/R | rs397517517 |
-0.425 | 1.0 | D | 0.809 | 0.819 | 0.816574466228 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | I | None | 0 | 6.56E-05 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
| G/R | rs397517517 |
-0.425 | 1.0 | D | 0.809 | 0.819 | 0.816574466228 | gnomAD-4.0.0 | 9.93517E-06 | None | None | None | None | I | None | 0 | 3.36146E-05 | None | 0 | 0 | None | 0 | 0 | 1.10343E-05 | 0 | 1.60452E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.5875 | likely_pathogenic | 0.6189 | pathogenic | -0.287 | Destabilizing | 0.999 | D | 0.779 | deleterious | D | 0.562768458 | None | None | I |
| G/C | 0.9398 | likely_pathogenic | 0.9473 | pathogenic | -0.825 | Destabilizing | 1.0 | D | 0.719 | prob.delet. | None | None | None | None | I |
| G/D | 0.9836 | likely_pathogenic | 0.9859 | pathogenic | -0.65 | Destabilizing | 1.0 | D | 0.836 | deleterious | None | None | None | None | I |
| G/E | 0.9894 | likely_pathogenic | 0.991 | pathogenic | -0.807 | Destabilizing | 1.0 | D | 0.823 | deleterious | D | 0.640847221 | None | None | I |
| G/F | 0.9877 | likely_pathogenic | 0.9899 | pathogenic | -0.995 | Destabilizing | 1.0 | D | 0.771 | deleterious | None | None | None | None | I |
| G/H | 0.9938 | likely_pathogenic | 0.9949 | pathogenic | -0.646 | Destabilizing | 1.0 | D | 0.692 | prob.neutral | None | None | None | None | I |
| G/I | 0.9689 | likely_pathogenic | 0.9745 | pathogenic | -0.375 | Destabilizing | 1.0 | D | 0.787 | deleterious | None | None | None | None | I |
| G/K | 0.9961 | likely_pathogenic | 0.9965 | pathogenic | -0.928 | Destabilizing | 1.0 | D | 0.822 | deleterious | None | None | None | None | I |
| G/L | 0.9811 | likely_pathogenic | 0.9841 | pathogenic | -0.375 | Destabilizing | 1.0 | D | 0.8 | deleterious | None | None | None | None | I |
| G/M | 0.9881 | likely_pathogenic | 0.9908 | pathogenic | -0.439 | Destabilizing | 1.0 | D | 0.711 | prob.delet. | None | None | None | None | I |
| G/N | 0.9827 | likely_pathogenic | 0.9856 | pathogenic | -0.509 | Destabilizing | 1.0 | D | 0.836 | deleterious | None | None | None | None | I |
| G/P | 0.9965 | likely_pathogenic | 0.9968 | pathogenic | -0.311 | Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | I |
| G/Q | 0.9908 | likely_pathogenic | 0.992 | pathogenic | -0.786 | Destabilizing | 1.0 | D | 0.802 | deleterious | None | None | None | None | I |
| G/R | 0.9866 | likely_pathogenic | 0.9876 | pathogenic | -0.498 | Destabilizing | 1.0 | D | 0.809 | deleterious | D | 0.660731223 | None | None | I |
| G/S | 0.648 | likely_pathogenic | 0.681 | pathogenic | -0.637 | Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | I |
| G/T | 0.9195 | likely_pathogenic | 0.9373 | pathogenic | -0.726 | Destabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | None | I |
| G/V | 0.9387 | likely_pathogenic | 0.9478 | pathogenic | -0.311 | Destabilizing | 1.0 | D | 0.798 | deleterious | D | 0.660731223 | None | None | I |
| G/W | 0.9866 | likely_pathogenic | 0.9889 | pathogenic | -1.189 | Destabilizing | 1.0 | D | 0.709 | prob.delet. | D | 0.661134832 | None | None | I |
| G/Y | 0.9901 | likely_pathogenic | 0.9915 | pathogenic | -0.827 | Destabilizing | 1.0 | D | 0.755 | deleterious | 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.