Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 29916 | 89971;89972;89973 | chr2:178553154;178553153;178553152 | chr2:179417881;179417880;179417879 |
| N2AB | 28275 | 85048;85049;85050 | chr2:178553154;178553153;178553152 | chr2:179417881;179417880;179417879 |
| N2A | 27348 | 82267;82268;82269 | chr2:178553154;178553153;178553152 | chr2:179417881;179417880;179417879 |
| N2B | 20851 | 62776;62777;62778 | chr2:178553154;178553153;178553152 | chr2:179417881;179417880;179417879 |
| Novex-1 | 20976 | 63151;63152;63153 | chr2:178553154;178553153;178553152 | chr2:179417881;179417880;179417879 |
| Novex-2 | 21043 | 63352;63353;63354 | chr2:178553154;178553153;178553152 | chr2:179417881;179417880;179417879 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/D | rs1308602245  |
-1.62 | 0.999 | D | 0.595 | 0.664 | 0.379366414296 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| N/D | rs1308602245 |
-1.62 | 0.999 | D | 0.595 | 0.664 | 0.379366414296 | gnomAD-4.0.0 | 6.84467E-07 | None | None | None | None | N | None | 0 | 2.23644E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| N/Y | rs1308602245 |
-0.469 | 1.0 | D | 0.723 | 0.714 | 0.745525825506 | gnomAD-2.1.1 | 8.05E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.78E-05 | 0 |
| N/Y | rs1308602245 |
-0.469 | 1.0 | D | 0.723 | 0.714 | 0.745525825506 | gnomAD-4.0.0 | 4.79127E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 6.29875E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/A | 0.9891 | likely_pathogenic | 0.9839 | pathogenic | -0.784 | Destabilizing | 1.0 | D | 0.725 | prob.delet. | None | None | None | None | N |
| N/C | 0.9585 | likely_pathogenic | 0.9464 | pathogenic | -0.028 | Destabilizing | 1.0 | D | 0.691 | prob.neutral | None | None | None | None | N |
| N/D | 0.9784 | likely_pathogenic | 0.9699 | pathogenic | -0.964 | Destabilizing | 0.999 | D | 0.595 | neutral | D | 0.535142205 | None | None | N |
| N/E | 0.9965 | likely_pathogenic | 0.9948 | pathogenic | -0.902 | Destabilizing | 0.999 | D | 0.682 | prob.neutral | None | None | None | None | N |
| N/F | 0.9994 | likely_pathogenic | 0.9991 | pathogenic | -0.713 | Destabilizing | 1.0 | D | 0.734 | prob.delet. | None | None | None | None | N |
| N/G | 0.9724 | likely_pathogenic | 0.9621 | pathogenic | -1.085 | Destabilizing | 0.999 | D | 0.552 | neutral | None | None | None | None | N |
| N/H | 0.9793 | likely_pathogenic | 0.9705 | pathogenic | -1.018 | Destabilizing | 1.0 | D | 0.741 | deleterious | D | 0.559286848 | None | None | N |
| N/I | 0.9934 | likely_pathogenic | 0.9896 | pathogenic | -0.034 | Destabilizing | 1.0 | D | 0.708 | prob.delet. | N | 0.514938036 | None | None | N |
| N/K | 0.9975 | likely_pathogenic | 0.9961 | pathogenic | -0.36 | Destabilizing | 1.0 | D | 0.711 | prob.delet. | D | 0.547258979 | None | None | N |
| N/L | 0.9891 | likely_pathogenic | 0.9836 | pathogenic | -0.034 | Destabilizing | 1.0 | D | 0.71 | prob.delet. | None | None | None | None | N |
| N/M | 0.991 | likely_pathogenic | 0.9861 | pathogenic | 0.529 | Stabilizing | 1.0 | D | 0.723 | prob.delet. | None | None | None | None | N |
| N/P | 0.9971 | likely_pathogenic | 0.9963 | pathogenic | -0.255 | Destabilizing | 1.0 | D | 0.701 | prob.neutral | None | None | None | None | N |
| N/Q | 0.9975 | likely_pathogenic | 0.9962 | pathogenic | -1.054 | Destabilizing | 1.0 | D | 0.743 | deleterious | None | None | None | None | N |
| N/R | 0.9967 | likely_pathogenic | 0.9951 | pathogenic | -0.333 | Destabilizing | 1.0 | D | 0.752 | deleterious | None | None | None | None | N |
| N/S | 0.7953 | likely_pathogenic | 0.7365 | pathogenic | -0.865 | Destabilizing | 0.999 | D | 0.571 | neutral | N | 0.492653045 | None | None | N |
| N/T | 0.9456 | likely_pathogenic | 0.9236 | pathogenic | -0.635 | Destabilizing | 0.999 | D | 0.673 | neutral | D | 0.55827289 | None | None | N |
| N/V | 0.9906 | likely_pathogenic | 0.9852 | pathogenic | -0.255 | Destabilizing | 1.0 | D | 0.711 | prob.delet. | None | None | None | None | N |
| N/W | 0.9994 | likely_pathogenic | 0.9992 | pathogenic | -0.521 | Destabilizing | 1.0 | D | 0.686 | prob.neutral | None | None | None | None | N |
| N/Y | 0.987 | likely_pathogenic | 0.9804 | pathogenic | -0.294 | Destabilizing | 1.0 | D | 0.723 | prob.delet. | D | 0.559286848 | 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.