Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 15633 | 47122;47123;47124 | chr2:178618653;178618652;178618651 | chr2:179483380;179483379;179483378 |
| N2AB | 13992 | 42199;42200;42201 | chr2:178618653;178618652;178618651 | chr2:179483380;179483379;179483378 |
| N2A | 13065 | 39418;39419;39420 | chr2:178618653;178618652;178618651 | chr2:179483380;179483379;179483378 |
| N2B | 6568 | 19927;19928;19929 | chr2:178618653;178618652;178618651 | chr2:179483380;179483379;179483378 |
| Novex-1 | 6693 | 20302;20303;20304 | chr2:178618653;178618652;178618651 | chr2:179483380;179483379;179483378 |
| Novex-2 | 6760 | 20503;20504;20505 | chr2:178618653;178618652;178618651 | chr2:179483380;179483379;179483378 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/R | rs1189365839  |
-0.577 | 1.0 | D | 0.846 | 0.701 | 0.611713948683 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 6.57895E-04 | None | 0 | None | 0 | 0 | 0 |
| G/R | rs1189365839 |
-0.577 | 1.0 | D | 0.846 | 0.701 | 0.611713948683 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 1.94628E-04 | None | 0 | 0 | 0 | 0 | 0 |
| G/R | rs1189365839 |
-0.577 | 1.0 | D | 0.846 | 0.701 | 0.611713948683 | gnomAD-4.0.0 | 6.58215E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 1.94628E-04 | None | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.3764 | ambiguous | 0.4541 | ambiguous | -0.721 | Destabilizing | 1.0 | D | 0.757 | deleterious | D | 0.571995186 | None | None | I |
| G/C | 0.7411 | likely_pathogenic | 0.7836 | pathogenic | -0.748 | Destabilizing | 1.0 | D | 0.76 | deleterious | None | None | None | None | I |
| G/D | 0.6942 | likely_pathogenic | 0.7679 | pathogenic | -1.421 | Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | I |
| G/E | 0.8198 | likely_pathogenic | 0.8535 | pathogenic | -1.412 | Destabilizing | 1.0 | D | 0.839 | deleterious | D | 0.569500844 | None | None | I |
| G/F | 0.963 | likely_pathogenic | 0.9747 | pathogenic | -0.865 | Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | I |
| G/H | 0.9544 | likely_pathogenic | 0.9693 | pathogenic | -1.581 | Destabilizing | 1.0 | D | 0.755 | deleterious | None | None | None | None | I |
| G/I | 0.9404 | likely_pathogenic | 0.9602 | pathogenic | -0.106 | Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | I |
| G/K | 0.9591 | likely_pathogenic | 0.9686 | pathogenic | -1.342 | Destabilizing | 1.0 | D | 0.84 | deleterious | None | None | None | None | I |
| G/L | 0.9238 | likely_pathogenic | 0.9536 | pathogenic | -0.106 | Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | I |
| G/M | 0.9461 | likely_pathogenic | 0.9669 | pathogenic | -0.047 | Destabilizing | 1.0 | D | 0.756 | deleterious | None | None | None | None | I |
| G/N | 0.847 | likely_pathogenic | 0.8914 | pathogenic | -1.078 | Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | I |
| G/P | 0.9934 | likely_pathogenic | 0.9954 | pathogenic | -0.268 | Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | I |
| G/Q | 0.9023 | likely_pathogenic | 0.9257 | pathogenic | -1.153 | Destabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | I |
| G/R | 0.9264 | likely_pathogenic | 0.9381 | pathogenic | -1.134 | Destabilizing | 1.0 | D | 0.846 | deleterious | D | 0.569356567 | None | None | I |
| G/S | 0.4054 | ambiguous | 0.4858 | ambiguous | -1.352 | Destabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | None | I |
| G/T | 0.781 | likely_pathogenic | 0.8477 | pathogenic | -1.259 | Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | I |
| G/V | 0.8711 | likely_pathogenic | 0.9091 | pathogenic | -0.268 | Destabilizing | 1.0 | D | 0.801 | deleterious | D | 0.569500844 | None | None | I |
| G/W | 0.9438 | likely_pathogenic | 0.9545 | pathogenic | -1.413 | Destabilizing | 1.0 | D | 0.78 | deleterious | D | 0.568994542 | None | None | I |
| G/Y | 0.9366 | likely_pathogenic | 0.9547 | pathogenic | -0.93 | Destabilizing | 1.0 | D | 0.779 | deleterious | None | None | None | None | I |
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.