Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 16668 | 50227;50228;50229 | chr2:178612523;178612522;178612521 | chr2:179477250;179477249;179477248 |
| N2AB | 15027 | 45304;45305;45306 | chr2:178612523;178612522;178612521 | chr2:179477250;179477249;179477248 |
| N2A | 14100 | 42523;42524;42525 | chr2:178612523;178612522;178612521 | chr2:179477250;179477249;179477248 |
| N2B | 7603 | 23032;23033;23034 | chr2:178612523;178612522;178612521 | chr2:179477250;179477249;179477248 |
| Novex-1 | 7728 | 23407;23408;23409 | chr2:178612523;178612522;178612521 | chr2:179477250;179477249;179477248 |
| Novex-2 | 7795 | 23608;23609;23610 | chr2:178612523;178612522;178612521 | chr2:179477250;179477249;179477248 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/E | None | None | 1.0 | D | 0.845 | 0.512 | 0.533759884177 | gnomAD-4.0.0 | 1.59546E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.8629E-06 | 0 | 0 |
| A/P | None | None | 1.0 | D | 0.861 | 0.571 | 0.365892764245 | gnomAD-4.0.0 | 6.84984E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99939E-07 | 0 | 0 |
| A/S | None | None | 1.0 | D | 0.651 | 0.346 | 0.232513804876 | gnomAD-4.0.0 | 6.84984E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99939E-07 | 0 | 0 |
| A/V | None | None | 1.0 | N | 0.702 | 0.342 | 0.27855597813 | gnomAD-4.0.0 | 1.59546E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.8629E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.6006 | likely_pathogenic | 0.6348 | pathogenic | -1.867 | Destabilizing | 1.0 | D | 0.773 | deleterious | None | None | None | None | N |
| A/D | 0.9976 | likely_pathogenic | 0.999 | pathogenic | -2.309 | Highly Destabilizing | 1.0 | D | 0.856 | deleterious | None | None | None | None | N |
| A/E | 0.9924 | likely_pathogenic | 0.9971 | pathogenic | -2.131 | Highly Destabilizing | 1.0 | D | 0.845 | deleterious | D | 0.600153903 | None | None | N |
| A/F | 0.9782 | likely_pathogenic | 0.9896 | pathogenic | -0.958 | Destabilizing | 1.0 | D | 0.879 | deleterious | None | None | None | None | N |
| A/G | 0.6151 | likely_pathogenic | 0.6419 | pathogenic | -1.653 | Destabilizing | 1.0 | D | 0.65 | neutral | D | 0.574094825 | None | None | N |
| A/H | 0.9964 | likely_pathogenic | 0.9984 | pathogenic | -1.991 | Destabilizing | 1.0 | D | 0.864 | deleterious | None | None | None | None | N |
| A/I | 0.7635 | likely_pathogenic | 0.8365 | pathogenic | 0.044 | Stabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | N |
| A/K | 0.9975 | likely_pathogenic | 0.9992 | pathogenic | -1.324 | Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | N |
| A/L | 0.7528 | likely_pathogenic | 0.8318 | pathogenic | 0.044 | Stabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | N |
| A/M | 0.8356 | likely_pathogenic | 0.9064 | pathogenic | -0.459 | Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | N |
| A/N | 0.9928 | likely_pathogenic | 0.9963 | pathogenic | -1.644 | Destabilizing | 1.0 | D | 0.872 | deleterious | None | None | None | None | N |
| A/P | 0.9957 | likely_pathogenic | 0.9982 | pathogenic | -0.322 | Destabilizing | 1.0 | D | 0.861 | deleterious | D | 0.639375663 | None | None | N |
| A/Q | 0.9842 | likely_pathogenic | 0.993 | pathogenic | -1.495 | Destabilizing | 1.0 | D | 0.869 | deleterious | None | None | None | None | N |
| A/R | 0.9897 | likely_pathogenic | 0.9961 | pathogenic | -1.38 | Destabilizing | 1.0 | D | 0.86 | deleterious | None | None | None | None | N |
| A/S | 0.5114 | ambiguous | 0.5922 | pathogenic | -2.129 | Highly Destabilizing | 1.0 | D | 0.651 | neutral | D | 0.524429764 | None | None | N |
| A/T | 0.4944 | ambiguous | 0.5924 | pathogenic | -1.808 | Destabilizing | 1.0 | D | 0.785 | deleterious | D | 0.574879811 | None | None | N |
| A/V | 0.3926 | ambiguous | 0.4989 | ambiguous | -0.322 | Destabilizing | 1.0 | D | 0.702 | prob.neutral | N | 0.379224691 | None | None | N |
| A/W | 0.9985 | likely_pathogenic | 0.9994 | pathogenic | -1.588 | Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | N |
| A/Y | 0.9936 | likely_pathogenic | 0.9971 | pathogenic | -1.055 | Destabilizing | 1.0 | D | 0.884 | 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.