Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 9742 | 29449;29450;29451 | chr2:178706650;178706649;178706648 | chr2:179571377;179571376;179571375 |
| N2AB | 9425 | 28498;28499;28500 | chr2:178706650;178706649;178706648 | chr2:179571377;179571376;179571375 |
| N2A | 8498 | 25717;25718;25719 | chr2:178706650;178706649;178706648 | chr2:179571377;179571376;179571375 |
| 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/A | rs1461138247  |
None | 1.0 | None | 0.581 | 0.407 | 0.268211541103 | gnomAD-4.0.0 | 1.59103E-06 | None | None | None | None | N | None | 5.65355E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/E | rs1461138247 |
-0.299 | 1.0 | None | 0.733 | 0.404 | 0.366085729538 | gnomAD-2.1.1 | 7.13E-06 | None | None | None | None | N | None | 4.13E-05 | 2.83E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| G/E | rs1461138247 |
-0.299 | 1.0 | None | 0.733 | 0.404 | 0.366085729538 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/E | rs1461138247 |
-0.299 | 1.0 | None | 0.733 | 0.404 | 0.366085729538 | gnomAD-4.0.0 | 2.5619E-06 | None | None | None | None | N | None | 1.69142E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.34009E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.4182 | ambiguous | 0.214 | benign | -0.21 | Destabilizing | 1.0 | D | 0.581 | neutral | None | None | None | None | N |
| G/C | 0.8253 | likely_pathogenic | 0.5571 | ambiguous | -0.903 | Destabilizing | 1.0 | D | 0.754 | deleterious | None | None | None | None | N |
| G/D | 0.9139 | likely_pathogenic | 0.6882 | pathogenic | -0.243 | Destabilizing | 1.0 | D | 0.675 | neutral | None | None | None | None | N |
| G/E | 0.9339 | likely_pathogenic | 0.6876 | pathogenic | -0.373 | Destabilizing | 1.0 | D | 0.733 | prob.delet. | None | None | None | None | N |
| G/F | 0.9268 | likely_pathogenic | 0.7739 | pathogenic | -0.777 | Destabilizing | 1.0 | D | 0.747 | deleterious | None | None | None | None | N |
| G/H | 0.9364 | likely_pathogenic | 0.7765 | pathogenic | -0.348 | Destabilizing | 1.0 | D | 0.722 | prob.delet. | None | None | None | None | N |
| G/I | 0.8776 | likely_pathogenic | 0.6228 | pathogenic | -0.28 | Destabilizing | 1.0 | D | 0.755 | deleterious | None | None | None | None | N |
| G/K | 0.9563 | likely_pathogenic | 0.7949 | pathogenic | -0.729 | Destabilizing | 1.0 | D | 0.735 | prob.delet. | None | None | None | None | N |
| G/L | 0.9075 | likely_pathogenic | 0.725 | pathogenic | -0.28 | Destabilizing | 1.0 | D | 0.764 | deleterious | None | None | None | None | N |
| G/M | 0.9104 | likely_pathogenic | 0.7389 | pathogenic | -0.56 | Destabilizing | 1.0 | D | 0.751 | deleterious | None | None | None | None | N |
| G/N | 0.8334 | likely_pathogenic | 0.6053 | pathogenic | -0.47 | Destabilizing | 1.0 | D | 0.689 | prob.neutral | None | None | None | None | N |
| G/P | 0.9866 | likely_pathogenic | 0.9511 | pathogenic | -0.223 | Destabilizing | 1.0 | D | 0.747 | deleterious | None | None | None | None | N |
| G/Q | 0.9164 | likely_pathogenic | 0.7109 | pathogenic | -0.662 | Destabilizing | 1.0 | D | 0.751 | deleterious | None | None | None | None | N |
| G/R | 0.9136 | likely_pathogenic | 0.6544 | pathogenic | -0.367 | Destabilizing | 1.0 | D | 0.749 | deleterious | None | None | None | None | N |
| G/S | 0.3663 | ambiguous | 0.1948 | benign | -0.668 | Destabilizing | 1.0 | D | 0.694 | prob.neutral | None | None | None | None | N |
| G/T | 0.6173 | likely_pathogenic | 0.3649 | ambiguous | -0.713 | Destabilizing | 1.0 | D | 0.733 | prob.delet. | None | None | None | None | N |
| G/V | 0.7513 | likely_pathogenic | 0.4419 | ambiguous | -0.223 | Destabilizing | 1.0 | D | 0.758 | deleterious | None | None | None | None | N |
| G/W | 0.8996 | likely_pathogenic | 0.6758 | pathogenic | -0.964 | Destabilizing | 1.0 | D | 0.729 | prob.delet. | None | None | None | None | N |
| G/Y | 0.9137 | likely_pathogenic | 0.7063 | pathogenic | -0.604 | Destabilizing | 1.0 | D | 0.747 | deleterious | 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.