Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3512 | 10759;10760;10761 | chr2:178757686;178757685;178757684 | chr2:179622413;179622412;179622411 |
| N2AB | None | None | chr2:None | chr2:None |
| N2A | None | None | chr2:None | chr2:None |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | 3466 | 10621;10622;10623 | chr2:178757686;178757685;178757684 | chr2:179622413;179622412;179622411 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | rs200918396  |
-1.87 | None | None | None | 0.209 | None | gnomAD-2.1.1 | 4.64E-05 | None | None | None | None | I | None | 5.37234E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| V/A | rs200918396 |
-1.87 | None | None | None | 0.209 | None | gnomAD-3.1.2 | 1.05193E-04 | None | None | None | None | I | None | 3.86231E-04 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/A | rs200918396 |
-1.87 | None | None | None | 0.209 | None | gnomAD-4.0.0 | 1.61122E-05 | None | None | None | None | I | None | 3.33769E-04 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 1.60108E-05 |
| V/I | rs748663632 |
-0.811 | None | None | None | 0.14 | None | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 1.65453E-04 |
| V/I | rs748663632 |
-0.811 | None | None | None | 0.14 | None | gnomAD-4.0.0 | 3.18228E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43275E-05 | 3.02371E-05 |
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 | 0.3744 | ambiguous | None | None | -1.056 | Destabilizing | None | None | None | None | None | None | None | None | I |
| V/C | 0.9033 | likely_pathogenic | None | None | -0.794 | Destabilizing | None | None | None | None | None | None | None | None | I |
| V/D | 0.6828 | likely_pathogenic | None | None | -0.324 | Destabilizing | None | None | None | None | None | None | None | None | I |
| V/E | 0.5607 | ambiguous | None | None | -0.279 | Destabilizing | None | None | None | None | None | None | None | None | I |
| V/F | 0.3148 | likely_benign | None | None | -0.636 | Destabilizing | None | None | None | None | None | None | None | None | I |
| V/G | 0.5411 | ambiguous | None | None | -1.408 | Destabilizing | None | None | None | None | None | None | None | None | I |
| V/H | 0.7854 | likely_pathogenic | None | None | -0.917 | Destabilizing | None | None | None | None | None | None | None | None | I |
| V/I | 0.0968 | likely_benign | None | None | -0.192 | Destabilizing | None | None | None | None | None | None | None | None | I |
| V/K | 0.6325 | likely_pathogenic | None | None | -0.742 | Destabilizing | None | None | None | None | None | None | None | None | I |
| V/L | 0.3147 | likely_benign | None | None | -0.192 | Destabilizing | None | None | None | None | None | None | None | None | I |
| V/M | 0.3082 | likely_benign | None | None | -0.264 | Destabilizing | None | None | None | None | None | None | None | None | I |
| V/N | 0.5606 | ambiguous | None | None | -0.663 | Destabilizing | None | None | None | None | None | None | None | None | I |
| V/P | 0.9101 | likely_pathogenic | None | None | -0.443 | Destabilizing | None | None | None | None | None | None | None | None | I |
| V/Q | 0.5741 | likely_pathogenic | None | None | -0.695 | Destabilizing | None | None | None | None | None | None | None | None | I |
| V/R | 0.5289 | ambiguous | None | None | -0.439 | Destabilizing | None | None | None | None | None | None | None | None | I |
| V/S | 0.4268 | ambiguous | None | None | -1.306 | Destabilizing | None | None | None | None | None | None | None | None | I |
| V/T | 0.3421 | ambiguous | None | None | -1.13 | Destabilizing | None | None | None | None | None | None | None | None | I |
| V/W | 0.9497 | likely_pathogenic | None | None | -0.867 | Destabilizing | None | None | None | None | None | None | None | None | I |
| V/Y | 0.7578 | likely_pathogenic | None | None | -0.508 | Destabilizing | None | None | None | None | 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.