Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 15894 | 47905;47906;47907 | chr2:178617405;178617404;178617403 | chr2:179482132;179482131;179482130 |
| N2AB | 14253 | 42982;42983;42984 | chr2:178617405;178617404;178617403 | chr2:179482132;179482131;179482130 |
| N2A | 13326 | 40201;40202;40203 | chr2:178617405;178617404;178617403 | chr2:179482132;179482131;179482130 |
| N2B | 6829 | 20710;20711;20712 | chr2:178617405;178617404;178617403 | chr2:179482132;179482131;179482130 |
| Novex-1 | 6954 | 21085;21086;21087 | chr2:178617405;178617404;178617403 | chr2:179482132;179482131;179482130 |
| Novex-2 | 7021 | 21286;21287;21288 | chr2:178617405;178617404;178617403 | chr2:179482132;179482131;179482130 |
| 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 | rs776700723  |
-1.773 | 1.0 | D | 0.864 | 0.867 | 0.826660485515 | gnomAD-2.1.1 | 4.52E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 9.86E-06 | 0 |
| Y/C | rs776700723 |
-1.773 | 1.0 | D | 0.864 | 0.867 | 0.826660485515 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 2.42E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| Y/C | rs776700723 |
-1.773 | 1.0 | D | 0.864 | 0.867 | 0.826660485515 | gnomAD-4.0.0 | 3.95781E-06 | None | None | None | None | N | None | 1.7258E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 4.87967E-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 | 0.9951 | likely_pathogenic | 0.9972 | pathogenic | -3.575 | Highly Destabilizing | 1.0 | D | 0.832 | deleterious | None | None | None | None | N |
| Y/C | 0.8578 | likely_pathogenic | 0.9289 | pathogenic | -1.746 | Destabilizing | 1.0 | D | 0.864 | deleterious | D | 0.813273124 | None | None | N |
| Y/D | 0.9926 | likely_pathogenic | 0.995 | pathogenic | -3.838 | Highly Destabilizing | 1.0 | D | 0.905 | deleterious | D | 0.84684093 | None | None | N |
| Y/E | 0.9984 | likely_pathogenic | 0.999 | pathogenic | -3.623 | Highly Destabilizing | 1.0 | D | 0.894 | deleterious | None | None | None | None | N |
| Y/F | 0.2472 | likely_benign | 0.3548 | ambiguous | -1.63 | Destabilizing | 0.999 | D | 0.659 | neutral | D | 0.626739015 | None | None | N |
| Y/G | 0.9823 | likely_pathogenic | 0.9877 | pathogenic | -3.959 | Highly Destabilizing | 1.0 | D | 0.908 | deleterious | None | None | None | None | N |
| Y/H | 0.9643 | likely_pathogenic | 0.9796 | pathogenic | -2.794 | Highly Destabilizing | 1.0 | D | 0.797 | deleterious | D | 0.846962188 | None | None | N |
| Y/I | 0.9723 | likely_pathogenic | 0.9845 | pathogenic | -2.257 | Highly Destabilizing | 1.0 | D | 0.844 | deleterious | None | None | None | None | N |
| Y/K | 0.998 | likely_pathogenic | 0.9985 | pathogenic | -2.589 | Highly Destabilizing | 1.0 | D | 0.891 | deleterious | None | None | None | None | N |
| Y/L | 0.9483 | likely_pathogenic | 0.9625 | pathogenic | -2.257 | Highly Destabilizing | 0.999 | D | 0.761 | deleterious | None | None | None | None | N |
| Y/M | 0.9781 | likely_pathogenic | 0.9876 | pathogenic | -1.85 | Destabilizing | 1.0 | D | 0.826 | deleterious | None | None | None | None | N |
| Y/N | 0.9498 | likely_pathogenic | 0.9688 | pathogenic | -3.38 | Highly Destabilizing | 1.0 | D | 0.897 | deleterious | D | 0.84684093 | None | None | N |
| Y/P | 0.9989 | likely_pathogenic | 0.9991 | pathogenic | -2.717 | Highly Destabilizing | 1.0 | D | 0.918 | deleterious | None | None | None | None | N |
| Y/Q | 0.9975 | likely_pathogenic | 0.9986 | pathogenic | -3.099 | Highly Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | N |
| Y/R | 0.993 | likely_pathogenic | 0.9947 | pathogenic | -2.419 | Highly Destabilizing | 1.0 | D | 0.897 | deleterious | None | None | None | None | N |
| Y/S | 0.9786 | likely_pathogenic | 0.988 | pathogenic | -3.624 | Highly Destabilizing | 1.0 | D | 0.891 | deleterious | D | 0.84684093 | None | None | N |
| Y/T | 0.9937 | likely_pathogenic | 0.9964 | pathogenic | -3.296 | Highly Destabilizing | 1.0 | D | 0.896 | deleterious | None | None | None | None | N |
| Y/V | 0.9525 | likely_pathogenic | 0.9689 | pathogenic | -2.717 | Highly Destabilizing | 1.0 | D | 0.792 | deleterious | None | None | None | None | N |
| Y/W | 0.7862 | likely_pathogenic | 0.8443 | pathogenic | -0.866 | Destabilizing | 1.0 | D | 0.784 | 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.