Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 31160 | 93703;93704;93705 | chr2:178548148;178548147;178548146 | chr2:179412875;179412874;179412873 |
| N2AB | 29519 | 88780;88781;88782 | chr2:178548148;178548147;178548146 | chr2:179412875;179412874;179412873 |
| N2A | 28592 | 85999;86000;86001 | chr2:178548148;178548147;178548146 | chr2:179412875;179412874;179412873 |
| N2B | 22095 | 66508;66509;66510 | chr2:178548148;178548147;178548146 | chr2:179412875;179412874;179412873 |
| Novex-1 | 22220 | 66883;66884;66885 | chr2:178548148;178548147;178548146 | chr2:179412875;179412874;179412873 |
| Novex-2 | 22287 | 67084;67085;67086 | chr2:178548148;178548147;178548146 | chr2:179412875;179412874;179412873 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/C | None | None | 1.0 | N | 0.703 | 0.591 | 0.465891899173 | gnomAD-4.0.0 | 1.36835E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79888E-06 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/A | 0.9768 | likely_pathogenic | 0.9709 | pathogenic | -3.302 | Highly Destabilizing | 1.0 | D | 0.731 | prob.delet. | None | None | None | None | N |
| W/C | 0.9896 | likely_pathogenic | 0.9878 | pathogenic | -1.443 | Destabilizing | 1.0 | D | 0.703 | prob.neutral | N | 0.520388404 | None | None | N |
| W/D | 0.9937 | likely_pathogenic | 0.9913 | pathogenic | -2.146 | Highly Destabilizing | 1.0 | D | 0.739 | prob.delet. | None | None | None | None | N |
| W/E | 0.9952 | likely_pathogenic | 0.9934 | pathogenic | -2.085 | Highly Destabilizing | 1.0 | D | 0.747 | deleterious | None | None | None | None | N |
| W/F | 0.561 | ambiguous | 0.569 | pathogenic | -2.1 | Highly Destabilizing | 1.0 | D | 0.608 | neutral | None | None | None | None | N |
| W/G | 0.9438 | likely_pathogenic | 0.9234 | pathogenic | -3.479 | Highly Destabilizing | 1.0 | D | 0.636 | neutral | N | 0.519627935 | None | None | N |
| W/H | 0.9759 | likely_pathogenic | 0.9735 | pathogenic | -1.707 | Destabilizing | 1.0 | D | 0.694 | prob.neutral | None | None | None | None | N |
| W/I | 0.9744 | likely_pathogenic | 0.9705 | pathogenic | -2.64 | Highly Destabilizing | 1.0 | D | 0.747 | deleterious | None | None | None | None | N |
| W/K | 0.9976 | likely_pathogenic | 0.9971 | pathogenic | -1.702 | Destabilizing | 1.0 | D | 0.749 | deleterious | None | None | None | None | N |
| W/L | 0.9104 | likely_pathogenic | 0.8942 | pathogenic | -2.64 | Highly Destabilizing | 1.0 | D | 0.636 | neutral | N | 0.506243714 | None | None | N |
| W/M | 0.983 | likely_pathogenic | 0.9812 | pathogenic | -2.037 | Highly Destabilizing | 1.0 | D | 0.681 | prob.neutral | None | None | None | None | N |
| W/N | 0.9942 | likely_pathogenic | 0.9937 | pathogenic | -1.982 | Destabilizing | 1.0 | D | 0.733 | prob.delet. | None | None | None | None | N |
| W/P | 0.9767 | likely_pathogenic | 0.9733 | pathogenic | -2.879 | Highly Destabilizing | 1.0 | D | 0.73 | prob.delet. | None | None | None | None | N |
| W/Q | 0.9963 | likely_pathogenic | 0.9953 | pathogenic | -2.076 | Highly Destabilizing | 1.0 | D | 0.725 | prob.delet. | None | None | None | None | N |
| W/R | 0.9932 | likely_pathogenic | 0.9908 | pathogenic | -0.97 | Destabilizing | 1.0 | D | 0.739 | prob.delet. | D | 0.526122395 | None | None | N |
| W/S | 0.9593 | likely_pathogenic | 0.9459 | pathogenic | -2.419 | Highly Destabilizing | 1.0 | D | 0.741 | deleterious | N | 0.510473676 | None | None | N |
| W/T | 0.975 | likely_pathogenic | 0.9663 | pathogenic | -2.313 | Highly Destabilizing | 1.0 | D | 0.702 | prob.neutral | None | None | None | None | N |
| W/V | 0.9679 | likely_pathogenic | 0.9596 | pathogenic | -2.879 | Highly Destabilizing | 1.0 | D | 0.736 | prob.delet. | None | None | None | None | N |
| W/Y | 0.8225 | likely_pathogenic | 0.8353 | pathogenic | -1.825 | Destabilizing | 1.0 | D | 0.567 | neutral | 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.