Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33211 | 99856;99857;99858 | chr2:178537576;178537575;178537574 | chr2:179402303;179402302;179402301 |
| N2AB | 31570 | 94933;94934;94935 | chr2:178537576;178537575;178537574 | chr2:179402303;179402302;179402301 |
| N2A | 30643 | 92152;92153;92154 | chr2:178537576;178537575;178537574 | chr2:179402303;179402302;179402301 |
| N2B | 24146 | 72661;72662;72663 | chr2:178537576;178537575;178537574 | chr2:179402303;179402302;179402301 |
| Novex-1 | 24271 | 73036;73037;73038 | chr2:178537576;178537575;178537574 | chr2:179402303;179402302;179402301 |
| Novex-2 | 24338 | 73237;73238;73239 | chr2:178537576;178537575;178537574 | chr2:179402303;179402302;179402301 |
| 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 | None | None | 1.0 | D | 0.892 | 0.746 | 0.708922172023 | gnomAD-4.0.0 | 1.59146E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85851E-06 | 0 | 0 |
| G/R | None | None | 1.0 | D | 0.875 | 0.791 | 0.907074024549 | gnomAD-4.0.0 | 1.36849E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79899E-06 | 0 | 0 |
| G/S | rs1553504771  |
None | 1.0 | D | 0.868 | 0.762 | 0.643721901085 | gnomAD-4.0.0 | 3.42122E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 5.79724E-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 | 0.6628 | likely_pathogenic | 0.697 | pathogenic | -0.345 | Destabilizing | 1.0 | D | 0.803 | deleterious | D | 0.574374896 | None | None | N |
| G/C | 0.7618 | likely_pathogenic | 0.7937 | pathogenic | -0.886 | Destabilizing | 1.0 | D | 0.841 | deleterious | D | 0.574980309 | None | None | N |
| G/D | 0.5638 | ambiguous | 0.5817 | pathogenic | -0.632 | Destabilizing | 1.0 | D | 0.892 | deleterious | D | 0.572760462 | None | None | N |
| G/E | 0.7551 | likely_pathogenic | 0.7872 | pathogenic | -0.801 | Destabilizing | 1.0 | D | 0.874 | deleterious | None | None | None | None | N |
| G/F | 0.9661 | likely_pathogenic | 0.9731 | pathogenic | -1.13 | Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | N |
| G/H | 0.8864 | likely_pathogenic | 0.8984 | pathogenic | -0.552 | Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | N |
| G/I | 0.9684 | likely_pathogenic | 0.9784 | pathogenic | -0.515 | Destabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | N |
| G/K | 0.9141 | likely_pathogenic | 0.9204 | pathogenic | -0.728 | Destabilizing | 1.0 | D | 0.868 | deleterious | None | None | None | None | N |
| G/L | 0.9523 | likely_pathogenic | 0.9593 | pathogenic | -0.515 | Destabilizing | 1.0 | D | 0.846 | deleterious | None | None | None | None | N |
| G/M | 0.9695 | likely_pathogenic | 0.9741 | pathogenic | -0.411 | Destabilizing | 1.0 | D | 0.836 | deleterious | None | None | None | None | N |
| G/N | 0.6341 | likely_pathogenic | 0.6394 | pathogenic | -0.423 | Destabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | N |
| G/P | 0.9914 | likely_pathogenic | 0.994 | pathogenic | -0.427 | Destabilizing | 1.0 | D | 0.871 | deleterious | None | None | None | None | N |
| G/Q | 0.8461 | likely_pathogenic | 0.8655 | pathogenic | -0.75 | Destabilizing | 1.0 | D | 0.871 | deleterious | None | None | None | None | N |
| G/R | 0.8333 | likely_pathogenic | 0.8575 | pathogenic | -0.268 | Destabilizing | 1.0 | D | 0.875 | deleterious | D | 0.590596061 | None | None | N |
| G/S | 0.3889 | ambiguous | 0.4344 | ambiguous | -0.569 | Destabilizing | 1.0 | D | 0.868 | deleterious | D | 0.564886506 | None | None | N |
| G/T | 0.8194 | likely_pathogenic | 0.8496 | pathogenic | -0.674 | Destabilizing | 1.0 | D | 0.871 | deleterious | None | None | None | None | N |
| G/V | 0.9302 | likely_pathogenic | 0.9524 | pathogenic | -0.427 | Destabilizing | 1.0 | D | 0.852 | deleterious | D | 0.590797866 | None | None | N |
| G/W | 0.9323 | likely_pathogenic | 0.9504 | pathogenic | -1.246 | Destabilizing | 1.0 | D | 0.852 | deleterious | None | None | None | None | N |
| G/Y | 0.9281 | likely_pathogenic | 0.9388 | pathogenic | -0.899 | Destabilizing | 1.0 | D | 0.843 | 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.