Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 27023 | 81292;81293;81294 | chr2:178565065;178565064;178565063 | chr2:179429792;179429791;179429790 |
| N2AB | 25382 | 76369;76370;76371 | chr2:178565065;178565064;178565063 | chr2:179429792;179429791;179429790 |
| N2A | 24455 | 73588;73589;73590 | chr2:178565065;178565064;178565063 | chr2:179429792;179429791;179429790 |
| N2B | 17958 | 54097;54098;54099 | chr2:178565065;178565064;178565063 | chr2:179429792;179429791;179429790 |
| Novex-1 | 18083 | 54472;54473;54474 | chr2:178565065;178565064;178565063 | chr2:179429792;179429791;179429790 |
| Novex-2 | 18150 | 54673;54674;54675 | chr2:178565065;178565064;178565063 | chr2:179429792;179429791;179429790 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/I | None | None | 0.997 | N | 0.493 | 0.282 | 0.638950937581 | gnomAD-4.0.0 | 4.80129E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.25001E-06 | 0 | 0 |
| V/L | rs2154163928  |
None | 0.997 | N | 0.552 | 0.369 | 0.55563304408 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 1.93573E-04 | None | 0 | 0 | 0 | 0 | 0 |
| V/L | rs2154163928 |
None | 0.997 | N | 0.552 | 0.369 | 0.55563304408 | gnomAD-4.0.0 | 6.56978E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.94024E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.4914 | ambiguous | 0.4483 | ambiguous | -1.373 | Destabilizing | 0.999 | D | 0.579 | neutral | N | 0.51913495 | None | None | N |
| V/C | 0.9179 | likely_pathogenic | 0.9021 | pathogenic | -0.998 | Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | N |
| V/D | 0.969 | likely_pathogenic | 0.9743 | pathogenic | -1.139 | Destabilizing | 1.0 | D | 0.856 | deleterious | None | None | None | None | N |
| V/E | 0.9261 | likely_pathogenic | 0.9327 | pathogenic | -1.122 | Destabilizing | 1.0 | D | 0.809 | deleterious | N | 0.49679042 | None | None | N |
| V/F | 0.6994 | likely_pathogenic | 0.7107 | pathogenic | -1.028 | Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | N |
| V/G | 0.7866 | likely_pathogenic | 0.7924 | pathogenic | -1.703 | Destabilizing | 1.0 | D | 0.811 | deleterious | N | 0.519707295 | None | None | N |
| V/H | 0.9782 | likely_pathogenic | 0.9795 | pathogenic | -1.184 | Destabilizing | 1.0 | D | 0.846 | deleterious | None | None | None | None | N |
| V/I | 0.112 | likely_benign | 0.0961 | benign | -0.569 | Destabilizing | 0.997 | D | 0.493 | neutral | N | 0.507397803 | None | None | N |
| V/K | 0.9724 | likely_pathogenic | 0.9764 | pathogenic | -1.224 | Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | N |
| V/L | 0.6086 | likely_pathogenic | 0.5406 | ambiguous | -0.569 | Destabilizing | 0.997 | D | 0.552 | neutral | N | 0.518633517 | None | None | N |
| V/M | 0.5682 | likely_pathogenic | 0.4936 | ambiguous | -0.486 | Destabilizing | 1.0 | D | 0.711 | prob.delet. | None | None | None | None | N |
| V/N | 0.9187 | likely_pathogenic | 0.9093 | pathogenic | -1.091 | Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | N |
| V/P | 0.966 | likely_pathogenic | 0.9643 | pathogenic | -0.802 | Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | N |
| V/Q | 0.9352 | likely_pathogenic | 0.9352 | pathogenic | -1.205 | Destabilizing | 1.0 | D | 0.842 | deleterious | None | None | None | None | N |
| V/R | 0.9617 | likely_pathogenic | 0.9678 | pathogenic | -0.73 | Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | N |
| V/S | 0.7872 | likely_pathogenic | 0.7506 | pathogenic | -1.614 | Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | N |
| V/T | 0.6482 | likely_pathogenic | 0.5892 | pathogenic | -1.474 | Destabilizing | 0.999 | D | 0.601 | neutral | None | None | None | None | N |
| V/W | 0.9937 | likely_pathogenic | 0.9938 | pathogenic | -1.235 | Destabilizing | 1.0 | D | 0.838 | deleterious | None | None | None | None | N |
| V/Y | 0.9527 | likely_pathogenic | 0.9589 | pathogenic | -0.925 | Destabilizing | 1.0 | D | 0.838 | 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.