Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 30424 | 91495;91496;91497 | chr2:178551630;178551260;178551259 | chr2:179416357;179415987;179415986 |
| N2AB | 28783 | 86572;86573;86574 | chr2:178551630;178551260;178551259 | chr2:179416357;179415987;179415986 |
| N2A | 27856 | 83791;83792;83793 | chr2:178551630;178551260;178551259 | chr2:179416357;179415987;179415986 |
| N2B | 21359 | 64300;64301;64302 | chr2:178551630;178551260;178551259 | chr2:179416357;179415987;179415986 |
| Novex-1 | 21484 | 64675;64676;64677 | chr2:178551630;178551260;178551259 | chr2:179416357;179415987;179415986 |
| Novex-2 | 21551 | 64876;64877;64878 | chr2:178551630;178551260;178551259 | chr2:179416357;179415987;179415986 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/E | rs1699307394  |
None | 1.0 | N | 0.683 | None | 0.221019684889 | gnomAD-4.0.0 | 4.83532E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.78893E-05 | None | 0 | 0 | 5.74769E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.778 | likely_pathogenic | 0.7452 | pathogenic | -0.482 | Destabilizing | 1.0 | D | 0.85 | deleterious | N | 0.487511257 | None | None | N |
| D/C | 0.9714 | likely_pathogenic | 0.963 | pathogenic | -0.39 | Destabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | None | N |
| D/E | 0.7808 | likely_pathogenic | 0.7441 | pathogenic | -0.792 | Destabilizing | 1.0 | D | 0.683 | prob.neutral | N | 0.469660491 | None | None | N |
| D/F | 0.948 | likely_pathogenic | 0.9452 | pathogenic | -0.16 | Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | N |
| D/G | 0.8087 | likely_pathogenic | 0.7635 | pathogenic | -0.853 | Destabilizing | 1.0 | D | 0.814 | deleterious | N | 0.475229457 | None | None | N |
| D/H | 0.9281 | likely_pathogenic | 0.9118 | pathogenic | -0.691 | Destabilizing | 1.0 | D | 0.819 | deleterious | N | 0.519253223 | None | None | N |
| D/I | 0.9691 | likely_pathogenic | 0.9755 | pathogenic | 0.501 | Stabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | N |
| D/K | 0.983 | likely_pathogenic | 0.9817 | pathogenic | -0.829 | Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | N |
| D/L | 0.9082 | likely_pathogenic | 0.9116 | pathogenic | 0.501 | Stabilizing | 1.0 | D | 0.84 | deleterious | None | None | None | None | N |
| D/M | 0.975 | likely_pathogenic | 0.9744 | pathogenic | 0.91 | Stabilizing | 1.0 | D | 0.808 | deleterious | None | None | None | None | N |
| D/N | 0.6992 | likely_pathogenic | 0.6497 | pathogenic | -1.118 | Destabilizing | 1.0 | D | 0.863 | deleterious | N | 0.495526654 | None | None | N |
| D/P | 0.9931 | likely_pathogenic | 0.9949 | pathogenic | 0.199 | Stabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | N |
| D/Q | 0.9524 | likely_pathogenic | 0.9466 | pathogenic | -0.935 | Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | N |
| D/R | 0.9806 | likely_pathogenic | 0.9821 | pathogenic | -0.731 | Destabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | N |
| D/S | 0.6329 | likely_pathogenic | 0.5836 | pathogenic | -1.432 | Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | N |
| D/T | 0.9318 | likely_pathogenic | 0.9338 | pathogenic | -1.134 | Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | N |
| D/V | 0.9274 | likely_pathogenic | 0.9359 | pathogenic | 0.199 | Stabilizing | 1.0 | D | 0.838 | deleterious | N | 0.500806573 | None | None | N |
| D/W | 0.9923 | likely_pathogenic | 0.9927 | pathogenic | -0.116 | Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | N |
| D/Y | 0.8039 | likely_pathogenic | 0.7915 | pathogenic | 0.015 | Stabilizing | 1.0 | D | 0.85 | deleterious | N | 0.507643428 | 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.