Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 32968 | 99127;99128;99129 | chr2:178539033;178539032;178539031 | chr2:179403760;179403759;179403758 |
| N2AB | 31327 | 94204;94205;94206 | chr2:178539033;178539032;178539031 | chr2:179403760;179403759;179403758 |
| N2A | 30400 | 91423;91424;91425 | chr2:178539033;178539032;178539031 | chr2:179403760;179403759;179403758 |
| N2B | 23903 | 71932;71933;71934 | chr2:178539033;178539032;178539031 | chr2:179403760;179403759;179403758 |
| Novex-1 | 24028 | 72307;72308;72309 | chr2:178539033;178539032;178539031 | chr2:179403760;179403759;179403758 |
| Novex-2 | 24095 | 72508;72509;72510 | chr2:178539033;178539032;178539031 | chr2:179403760;179403759;179403758 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Y/C | rs1575348383  |
None | 1.0 | D | 0.886 | 0.885 | 0.871487081793 | gnomAD-4.0.0 | 1.59137E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85861E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Y/A | 0.9989 | likely_pathogenic | 0.999 | pathogenic | -3.371 | Highly Destabilizing | 1.0 | D | 0.866 | deleterious | None | None | None | None | N |
| Y/C | 0.9888 | likely_pathogenic | 0.9875 | pathogenic | -2.076 | Highly Destabilizing | 1.0 | D | 0.886 | deleterious | D | 0.648094277 | None | None | N |
| Y/D | 0.9987 | likely_pathogenic | 0.9984 | pathogenic | -3.696 | Highly Destabilizing | 1.0 | D | 0.898 | deleterious | D | 0.673632389 | None | None | N |
| Y/E | 0.9995 | likely_pathogenic | 0.9994 | pathogenic | -3.5 | Highly Destabilizing | 1.0 | D | 0.897 | deleterious | None | None | None | None | N |
| Y/F | 0.5501 | ambiguous | 0.5623 | ambiguous | -1.227 | Destabilizing | 0.999 | D | 0.746 | deleterious | D | 0.612149835 | None | None | N |
| Y/G | 0.9946 | likely_pathogenic | 0.9945 | pathogenic | -3.78 | Highly Destabilizing | 1.0 | D | 0.895 | deleterious | None | None | None | None | N |
| Y/H | 0.9944 | likely_pathogenic | 0.9939 | pathogenic | -2.279 | Highly Destabilizing | 1.0 | D | 0.819 | deleterious | D | 0.673632389 | None | None | N |
| Y/I | 0.9899 | likely_pathogenic | 0.9889 | pathogenic | -2.005 | Highly Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | N |
| Y/K | 0.9995 | likely_pathogenic | 0.9995 | pathogenic | -2.425 | Highly Destabilizing | 1.0 | D | 0.895 | deleterious | None | None | None | None | N |
| Y/L | 0.9701 | likely_pathogenic | 0.9743 | pathogenic | -2.005 | Highly Destabilizing | 0.999 | D | 0.821 | deleterious | None | None | None | None | N |
| Y/M | 0.9937 | likely_pathogenic | 0.9946 | pathogenic | -1.773 | Destabilizing | 1.0 | D | 0.848 | deleterious | None | None | None | None | N |
| Y/N | 0.9885 | likely_pathogenic | 0.9866 | pathogenic | -3.177 | Highly Destabilizing | 1.0 | D | 0.888 | deleterious | D | 0.673430584 | None | None | N |
| Y/P | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -2.476 | Highly Destabilizing | 1.0 | D | 0.916 | deleterious | None | None | None | None | N |
| Y/Q | 0.9995 | likely_pathogenic | 0.9995 | pathogenic | -2.964 | Highly Destabilizing | 1.0 | D | 0.85 | deleterious | None | None | None | None | N |
| Y/R | 0.9987 | likely_pathogenic | 0.9986 | pathogenic | -2.063 | Highly Destabilizing | 1.0 | D | 0.896 | deleterious | None | None | None | None | N |
| Y/S | 0.9962 | likely_pathogenic | 0.9957 | pathogenic | -3.529 | Highly Destabilizing | 1.0 | D | 0.897 | deleterious | D | 0.673632389 | None | None | N |
| Y/T | 0.9985 | likely_pathogenic | 0.9983 | pathogenic | -3.218 | Highly Destabilizing | 1.0 | D | 0.897 | deleterious | None | None | None | None | N |
| Y/V | 0.9817 | likely_pathogenic | 0.98 | pathogenic | -2.476 | Highly Destabilizing | 1.0 | D | 0.834 | deleterious | None | None | None | None | N |
| Y/W | 0.9535 | likely_pathogenic | 0.9483 | pathogenic | -0.529 | Destabilizing | 1.0 | D | 0.815 | 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.