Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 78 | 457;458;459 | chr2:178802201;178802200;178802199 | chr2:179666928;179666927;179666926 |
| N2AB | 78 | 457;458;459 | chr2:178802201;178802200;178802199 | chr2:179666928;179666927;179666926 |
| N2A | 78 | 457;458;459 | chr2:178802201;178802200;178802199 | chr2:179666928;179666927;179666926 |
| N2B | 78 | 457;458;459 | chr2:178802201;178802200;178802199 | chr2:179666928;179666927;179666926 |
| Novex-1 | 78 | 457;458;459 | chr2:178802201;178802200;178802199 | chr2:179666928;179666927;179666926 |
| Novex-2 | 78 | 457;458;459 | chr2:178802201;178802200;178802199 | chr2:179666928;179666927;179666926 |
| Novex-3 | 78 | 457;458;459 | chr2:178802201;178802200;178802199 | chr2:179666928;179666927;179666926 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Y/H | None | None | 0.999 | D | 0.685 | 0.657 | 0.744883404023 | gnomAD-4.0.0 | 1.59044E-06 | None | None | None | -0.08(TCAP) | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43275E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Y/A | 0.997 | likely_pathogenic | 0.9964 | pathogenic | -2.105 | Highly Destabilizing | 0.999 | D | 0.849 | deleterious | None | None | None | -0.317(TCAP) | N |
| Y/C | 0.9653 | likely_pathogenic | 0.9605 | pathogenic | -1.454 | Destabilizing | 1.0 | D | 0.873 | deleterious | D | 0.859123584 | None | -0.847(TCAP) | N |
| Y/D | 0.9972 | likely_pathogenic | 0.9971 | pathogenic | -2.66 | Highly Destabilizing | 1.0 | D | 0.898 | deleterious | D | 0.859123584 | None | -0.638(TCAP) | N |
| Y/E | 0.999 | likely_pathogenic | 0.9989 | pathogenic | -2.407 | Highly Destabilizing | 1.0 | D | 0.89 | deleterious | None | None | None | -0.737(TCAP) | N |
| Y/F | 0.1131 | likely_benign | 0.0909 | benign | -0.647 | Destabilizing | 0.316 | N | 0.363 | neutral | D | 0.678338085 | None | -0.814(TCAP) | N |
| Y/G | 0.9946 | likely_pathogenic | 0.9941 | pathogenic | -2.565 | Highly Destabilizing | 1.0 | D | 0.891 | deleterious | None | None | None | -0.225(TCAP) | N |
| Y/H | 0.9783 | likely_pathogenic | 0.9767 | pathogenic | -1.929 | Destabilizing | 0.999 | D | 0.685 | prob.neutral | D | 0.827409111 | None | -0.08(TCAP) | N |
| Y/I | 0.8972 | likely_pathogenic | 0.8722 | pathogenic | -0.592 | Destabilizing | 0.991 | D | 0.776 | deleterious | None | None | None | -0.655(TCAP) | N |
| Y/K | 0.999 | likely_pathogenic | 0.9988 | pathogenic | -1.696 | Destabilizing | 1.0 | D | 0.889 | deleterious | None | None | None | -0.626(TCAP) | N |
| Y/L | 0.9087 | likely_pathogenic | 0.8964 | pathogenic | -0.592 | Destabilizing | 0.97 | D | 0.758 | deleterious | None | None | None | -0.655(TCAP) | N |
| Y/M | 0.9806 | likely_pathogenic | 0.9752 | pathogenic | -0.685 | Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | -0.988(TCAP) | N |
| Y/N | 0.9899 | likely_pathogenic | 0.9898 | pathogenic | -2.615 | Highly Destabilizing | 1.0 | D | 0.883 | deleterious | D | 0.859123584 | None | -0.551(TCAP) | N |
| Y/P | 0.9991 | likely_pathogenic | 0.999 | pathogenic | -1.112 | Destabilizing | 1.0 | D | 0.903 | deleterious | None | None | None | -0.533(TCAP) | N |
| Y/Q | 0.9986 | likely_pathogenic | 0.9984 | pathogenic | -2.143 | Highly Destabilizing | 0.999 | D | 0.797 | deleterious | None | None | None | -0.667(TCAP) | N |
| Y/R | 0.9964 | likely_pathogenic | 0.9961 | pathogenic | -2.02 | Highly Destabilizing | 1.0 | D | 0.886 | deleterious | None | None | None | -0.786(TCAP) | N |
| Y/S | 0.9937 | likely_pathogenic | 0.9932 | pathogenic | -2.948 | Highly Destabilizing | 1.0 | D | 0.876 | deleterious | D | 0.859123584 | None | -0.199(TCAP) | N |
| Y/T | 0.9965 | likely_pathogenic | 0.9957 | pathogenic | -2.544 | Highly Destabilizing | 1.0 | D | 0.876 | deleterious | None | None | None | -0.319(TCAP) | N |
| Y/V | 0.9115 | likely_pathogenic | 0.8978 | pathogenic | -1.112 | Destabilizing | 0.999 | D | 0.784 | deleterious | None | None | None | -0.533(TCAP) | N |
| Y/W | 0.7782 | likely_pathogenic | 0.7468 | pathogenic | -0.029 | Destabilizing | 1.0 | D | 0.694 | prob.neutral | None | None | None | -1.444(TCAP) | 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.