Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 31449 | 94570;94571;94572 | chr2:178547180;178547179;178547178 | chr2:179411907;179411906;179411905 |
| N2AB | 29808 | 89647;89648;89649 | chr2:178547180;178547179;178547178 | chr2:179411907;179411906;179411905 |
| N2A | 28881 | 86866;86867;86868 | chr2:178547180;178547179;178547178 | chr2:179411907;179411906;179411905 |
| N2B | 22384 | 67375;67376;67377 | chr2:178547180;178547179;178547178 | chr2:179411907;179411906;179411905 |
| Novex-1 | 22509 | 67750;67751;67752 | chr2:178547180;178547179;178547178 | chr2:179411907;179411906;179411905 |
| Novex-2 | 22576 | 67951;67952;67953 | chr2:178547180;178547179;178547178 | chr2:179411907;179411906;179411905 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/K | rs374474093  |
-0.659 | 0.999 | N | 0.576 | 0.41 | 0.392855499163 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.87E-06 | 0 |
| E/K | rs374474093 |
-0.659 | 0.999 | N | 0.576 | 0.41 | 0.392855499163 | gnomAD-4.0.0 | 6.84196E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99468E-07 | 0 | 0 |
| E/Q | rs374474093 |
-0.915 | 1.0 | N | 0.619 | 0.423 | None | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 6.46E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/A | 0.9517 | likely_pathogenic | 0.9402 | pathogenic | -0.64 | Destabilizing | 0.999 | D | 0.649 | neutral | N | 0.49166554 | None | None | N |
| E/C | 0.9973 | likely_pathogenic | 0.9961 | pathogenic | -0.393 | Destabilizing | 1.0 | D | 0.711 | prob.delet. | None | None | None | None | N |
| E/D | 0.7698 | likely_pathogenic | 0.6712 | pathogenic | -1.28 | Destabilizing | 0.999 | D | 0.426 | neutral | N | 0.471151789 | None | None | N |
| E/F | 0.9989 | likely_pathogenic | 0.9987 | pathogenic | 0.1 | Stabilizing | 1.0 | D | 0.73 | prob.delet. | None | None | None | None | N |
| E/G | 0.9514 | likely_pathogenic | 0.9456 | pathogenic | -1.071 | Destabilizing | 1.0 | D | 0.673 | neutral | N | 0.495312844 | None | None | N |
| E/H | 0.9955 | likely_pathogenic | 0.9936 | pathogenic | -0.282 | Destabilizing | 1.0 | D | 0.669 | neutral | None | None | None | None | N |
| E/I | 0.9932 | likely_pathogenic | 0.992 | pathogenic | 0.553 | Stabilizing | 1.0 | D | 0.771 | deleterious | None | None | None | None | N |
| E/K | 0.9831 | likely_pathogenic | 0.9811 | pathogenic | -0.703 | Destabilizing | 0.999 | D | 0.576 | neutral | N | 0.508629954 | None | None | N |
| E/L | 0.9897 | likely_pathogenic | 0.9867 | pathogenic | 0.553 | Stabilizing | 1.0 | D | 0.769 | deleterious | None | None | None | None | N |
| E/M | 0.9905 | likely_pathogenic | 0.9898 | pathogenic | 1.034 | Stabilizing | 1.0 | D | 0.652 | neutral | None | None | None | None | N |
| E/N | 0.9832 | likely_pathogenic | 0.9769 | pathogenic | -1.296 | Destabilizing | 1.0 | D | 0.737 | prob.delet. | None | None | None | None | N |
| E/P | 0.9933 | likely_pathogenic | 0.9882 | pathogenic | 0.178 | Stabilizing | 1.0 | D | 0.767 | deleterious | None | None | None | None | N |
| E/Q | 0.9153 | likely_pathogenic | 0.9105 | pathogenic | -1.058 | Destabilizing | 1.0 | D | 0.619 | neutral | N | 0.475407709 | None | None | N |
| E/R | 0.9863 | likely_pathogenic | 0.9845 | pathogenic | -0.447 | Destabilizing | 1.0 | D | 0.733 | prob.delet. | None | None | None | None | N |
| E/S | 0.9793 | likely_pathogenic | 0.9745 | pathogenic | -1.64 | Destabilizing | 0.999 | D | 0.629 | neutral | None | None | None | None | N |
| E/T | 0.9921 | likely_pathogenic | 0.9902 | pathogenic | -1.269 | Destabilizing | 1.0 | D | 0.764 | deleterious | None | None | None | None | N |
| E/V | 0.9802 | likely_pathogenic | 0.9766 | pathogenic | 0.178 | Stabilizing | 1.0 | D | 0.751 | deleterious | N | 0.495312844 | None | None | N |
| E/W | 0.9995 | likely_pathogenic | 0.9993 | pathogenic | 0.305 | Stabilizing | 1.0 | D | 0.716 | prob.delet. | None | None | None | None | N |
| E/Y | 0.9972 | likely_pathogenic | 0.9966 | pathogenic | 0.343 | Stabilizing | 1.0 | D | 0.717 | prob.delet. | 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.