Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 16580 | 49963;49964;49965 | chr2:178612983;178612982;178612981 | chr2:179477710;179477709;179477708 |
| N2AB | 14939 | 45040;45041;45042 | chr2:178612983;178612982;178612981 | chr2:179477710;179477709;179477708 |
| N2A | 14012 | 42259;42260;42261 | chr2:178612983;178612982;178612981 | chr2:179477710;179477709;179477708 |
| N2B | 7515 | 22768;22769;22770 | chr2:178612983;178612982;178612981 | chr2:179477710;179477709;179477708 |
| Novex-1 | 7640 | 23143;23144;23145 | chr2:178612983;178612982;178612981 | chr2:179477710;179477709;179477708 |
| Novex-2 | 7707 | 23344;23345;23346 | chr2:178612983;178612982;178612981 | chr2:179477710;179477709;179477708 |
| 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/D | rs1465327751  |
-0.86 | 1.0 | D | 0.702 | 0.594 | 0.384919354899 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.9E-06 | 0 |
| G/D | rs1465327751 |
-0.86 | 1.0 | D | 0.702 | 0.594 | 0.384919354899 | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | I | None | 0 | 1.31113E-04 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/D | rs1465327751 |
-0.86 | 1.0 | D | 0.702 | 0.594 | 0.384919354899 | gnomAD-4.0.0 | 8.97949E-06 | None | None | None | None | I | None | 0 | 3.39363E-05 | None | 0 | 0 | None | 0 | 0 | 4.79191E-06 | 0 | 8.54847E-05 |
| G/S | None | None | 1.0 | N | 0.706 | 0.473 | 0.324161360171 | gnomAD-4.0.0 | 1.08029E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.18125E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.8208 | likely_pathogenic | 0.9208 | pathogenic | -0.074 | Destabilizing | 1.0 | D | 0.623 | neutral | D | 0.534908383 | None | None | I |
| G/C | 0.9274 | likely_pathogenic | 0.9737 | pathogenic | -0.7 | Destabilizing | 1.0 | D | 0.789 | deleterious | D | 0.717187077 | None | None | I |
| G/D | 0.9397 | likely_pathogenic | 0.9855 | pathogenic | -0.635 | Destabilizing | 1.0 | D | 0.702 | prob.neutral | D | 0.586050081 | None | None | I |
| G/E | 0.9614 | likely_pathogenic | 0.9908 | pathogenic | -0.807 | Destabilizing | 1.0 | D | 0.79 | deleterious | None | None | None | None | I |
| G/F | 0.975 | likely_pathogenic | 0.9905 | pathogenic | -0.972 | Destabilizing | 1.0 | D | 0.779 | deleterious | None | None | None | None | I |
| G/H | 0.9731 | likely_pathogenic | 0.9916 | pathogenic | -0.25 | Destabilizing | 1.0 | D | 0.776 | deleterious | None | None | None | None | I |
| G/I | 0.9658 | likely_pathogenic | 0.9908 | pathogenic | -0.362 | Destabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | I |
| G/K | 0.9646 | likely_pathogenic | 0.9889 | pathogenic | -0.488 | Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | I |
| G/L | 0.9591 | likely_pathogenic | 0.9851 | pathogenic | -0.362 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | I |
| G/M | 0.9716 | likely_pathogenic | 0.9905 | pathogenic | -0.412 | Destabilizing | 1.0 | D | 0.785 | deleterious | None | None | None | None | I |
| G/N | 0.9136 | likely_pathogenic | 0.9691 | pathogenic | -0.107 | Destabilizing | 1.0 | D | 0.693 | prob.neutral | None | None | None | None | I |
| G/P | 0.9958 | likely_pathogenic | 0.9983 | pathogenic | -0.241 | Destabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | I |
| G/Q | 0.9578 | likely_pathogenic | 0.9854 | pathogenic | -0.42 | Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | I |
| G/R | 0.9326 | likely_pathogenic | 0.9775 | pathogenic | -0.06 | Destabilizing | 1.0 | D | 0.803 | deleterious | D | 0.578668771 | None | None | I |
| G/S | 0.7211 | likely_pathogenic | 0.8742 | pathogenic | -0.202 | Destabilizing | 1.0 | D | 0.706 | prob.neutral | N | 0.521948109 | None | None | I |
| G/T | 0.9175 | likely_pathogenic | 0.9715 | pathogenic | -0.319 | Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | I |
| G/V | 0.9538 | likely_pathogenic | 0.9863 | pathogenic | -0.241 | Destabilizing | 1.0 | D | 0.792 | deleterious | D | 0.693407259 | None | None | I |
| G/W | 0.9723 | likely_pathogenic | 0.9905 | pathogenic | -1.091 | Destabilizing | 1.0 | D | 0.782 | deleterious | None | None | None | None | I |
| G/Y | 0.9702 | likely_pathogenic | 0.9897 | pathogenic | -0.745 | Destabilizing | 1.0 | D | 0.773 | 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.