Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 10156 | 30691;30692;30693 | chr2:178702213;178702212;178702211 | chr2:179566940;179566939;179566938 |
| N2AB | 9839 | 29740;29741;29742 | chr2:178702213;178702212;178702211 | chr2:179566940;179566939;179566938 |
| N2A | 8912 | 26959;26960;26961 | chr2:178702213;178702212;178702211 | chr2:179566940;179566939;179566938 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/G | rs2075131070  |
None | 1.0 | None | 0.767 | 0.31 | 0.566121633045 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 6.54E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| R/G | rs2075131070 |
None | 1.0 | None | 0.767 | 0.31 | 0.566121633045 | gnomAD-4.0.0 | 6.57013E-06 | None | None | None | None | N | None | 0 | 6.54279E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| R/S | None | None | 1.0 | None | 0.778 | 0.229 | 0.380730819819 | gnomAD-4.0.0 | 1.59085E-06 | None | None | None | None | N | None | 0 | 2.28624E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| R/T | rs794729403 |
None | 1.0 | None | 0.773 | 0.293 | 0.622442570095 | gnomAD-4.0.0 | 3.1817E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.71491E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/A | 0.92 | likely_pathogenic | 0.9655 | pathogenic | -0.342 | Destabilizing | 0.999 | D | 0.703 | prob.neutral | None | None | None | None | N |
| R/C | 0.8479 | likely_pathogenic | 0.9225 | pathogenic | -0.652 | Destabilizing | 1.0 | D | 0.784 | deleterious | None | None | None | None | N |
| R/D | 0.9803 | likely_pathogenic | 0.991 | pathogenic | -0.36 | Destabilizing | 1.0 | D | 0.779 | deleterious | None | None | None | None | N |
| R/E | 0.8753 | likely_pathogenic | 0.94 | pathogenic | -0.23 | Destabilizing | 0.999 | D | 0.711 | prob.delet. | None | None | None | None | N |
| R/F | 0.9718 | likely_pathogenic | 0.9866 | pathogenic | -0.352 | Destabilizing | 1.0 | D | 0.781 | deleterious | None | None | None | None | N |
| R/G | 0.879 | likely_pathogenic | 0.9388 | pathogenic | -0.597 | Destabilizing | 1.0 | D | 0.767 | deleterious | None | None | None | None | N |
| R/H | 0.6677 | likely_pathogenic | 0.818 | pathogenic | -1.178 | Destabilizing | 1.0 | D | 0.787 | deleterious | None | None | None | None | N |
| R/I | 0.9324 | likely_pathogenic | 0.9683 | pathogenic | 0.324 | Stabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | N |
| R/K | 0.6162 | likely_pathogenic | 0.7693 | pathogenic | -0.388 | Destabilizing | 0.997 | D | 0.597 | neutral | None | None | None | None | N |
| R/L | 0.8591 | likely_pathogenic | 0.9204 | pathogenic | 0.324 | Stabilizing | 1.0 | D | 0.767 | deleterious | None | None | None | None | N |
| R/M | 0.942 | likely_pathogenic | 0.9768 | pathogenic | -0.333 | Destabilizing | 1.0 | D | 0.779 | deleterious | None | None | None | None | N |
| R/N | 0.9738 | likely_pathogenic | 0.9883 | pathogenic | -0.454 | Destabilizing | 1.0 | D | 0.788 | deleterious | None | None | None | None | N |
| R/P | 0.9759 | likely_pathogenic | 0.9876 | pathogenic | 0.123 | Stabilizing | 1.0 | D | 0.773 | deleterious | None | None | None | None | N |
| R/Q | 0.5656 | likely_pathogenic | 0.7541 | pathogenic | -0.39 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | N |
| R/S | 0.9625 | likely_pathogenic | 0.9835 | pathogenic | -0.816 | Destabilizing | 1.0 | D | 0.778 | deleterious | None | None | None | None | N |
| R/T | 0.9315 | likely_pathogenic | 0.9734 | pathogenic | -0.512 | Destabilizing | 1.0 | D | 0.773 | deleterious | None | None | None | None | N |
| R/V | 0.9323 | likely_pathogenic | 0.9666 | pathogenic | 0.123 | Stabilizing | 1.0 | D | 0.781 | deleterious | None | None | None | None | N |
| R/W | 0.7946 | likely_pathogenic | 0.8749 | pathogenic | -0.35 | Destabilizing | 1.0 | D | 0.764 | deleterious | None | None | None | None | N |
| R/Y | 0.9253 | likely_pathogenic | 0.9604 | pathogenic | 0.01 | Stabilizing | 1.0 | D | 0.793 | 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.