Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3513 | 10762;10763;10764 | chr2:178757683;178757682;178757681 | chr2:179622410;179622409;179622408 |
| N2AB | None | None | chr2:None | chr2:None |
| N2A | None | None | chr2:None | chr2:None |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | 3467 | 10624;10625;10626 | chr2:178757683;178757682;178757681 | chr2:179622410;179622409;179622408 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/L | rs771751290  |
-1.655 | None | None | None | 0.131 | None | gnomAD-2.1.1 | 1.39142E-04 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.00041E-03 | None | 0 | None | 0 | 0 | 0 |
| F/L | rs771751290 |
-1.655 | None | None | None | 0.131 | None | gnomAD-3.1.2 | 2.63E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 7.72499E-04 | None | 0 | 0 | 0 | 0 | 0 |
| F/L | rs771751290 |
-1.655 | None | None | None | 0.131 | None | gnomAD-4.0.0 | 1.98297E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 6.2422E-04 | None | 0 | 0 | 8.47587E-07 | 0 | 4.80292E-05 |
| F/V | rs771751290 |
None | None | None | None | 0.159 | None | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| F/V | rs771751290 |
None | None | None | None | 0.159 | None | gnomAD-4.0.0 | 6.57237E-06 | None | None | None | None | N | None | 2.41383E-05 | 0 | None | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/A | 0.7943 | likely_pathogenic | None | None | -2.378 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| F/C | 0.4308 | ambiguous | None | None | -1.394 | Destabilizing | None | None | None | None | None | None | None | None | N |
| F/D | 0.9659 | likely_pathogenic | None | None | -2.342 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| F/E | 0.9547 | likely_pathogenic | None | None | -2.194 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| F/G | 0.9239 | likely_pathogenic | None | None | -2.752 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| F/H | 0.8356 | likely_pathogenic | None | None | -1.065 | Destabilizing | None | None | None | None | None | None | None | None | N |
| F/I | 0.2617 | likely_benign | None | None | -1.198 | Destabilizing | None | None | None | None | None | None | None | None | N |
| F/K | 0.9537 | likely_pathogenic | None | None | -1.859 | Destabilizing | None | None | None | None | None | None | None | None | N |
| F/L | 0.8232 | likely_pathogenic | None | None | -1.198 | Destabilizing | None | None | None | None | None | None | None | None | N |
| F/M | 0.6202 | likely_pathogenic | None | None | -0.821 | Destabilizing | None | None | None | None | None | None | None | None | N |
| F/N | 0.8834 | likely_pathogenic | None | None | -2.21 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| F/P | 0.9806 | likely_pathogenic | None | None | -1.594 | Destabilizing | None | None | None | None | None | None | None | None | N |
| F/Q | 0.9092 | likely_pathogenic | None | None | -2.224 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| F/R | 0.9027 | likely_pathogenic | None | None | -1.254 | Destabilizing | None | None | None | None | None | None | None | None | N |
| F/S | 0.7002 | likely_pathogenic | None | None | -2.829 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| F/T | 0.6999 | likely_pathogenic | None | None | -2.581 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| F/V | 0.298 | likely_benign | None | None | -1.594 | Destabilizing | None | None | None | None | None | None | None | None | N |
| F/W | 0.715 | likely_pathogenic | None | None | -0.341 | Destabilizing | None | None | None | None | None | None | None | None | N |
| F/Y | 0.3096 | likely_benign | None | None | -0.62 | Destabilizing | None | None | None | None | 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.