Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3488 | 10687;10688;10689 | chr2:178757758;178757757;178757756 | chr2:179622485;179622484;179622483 |
| N2AB | None | None | chr2:None | chr2:None |
| N2A | None | None | chr2:None | chr2:None |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | 3442 | 10549;10550;10551 | chr2:178757758;178757757;178757756 | chr2:179622485;179622484;179622483 |
| 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/F | None | None | None | None | None | 0.451 | None | gnomAD-4.0.0 | 1.59129E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85847E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.7771 | likely_pathogenic | None | None | -1.976 | Destabilizing | None | None | None | None | None | None | None | None | I |
| V/C | 0.9558 | likely_pathogenic | None | None | -1.525 | Destabilizing | None | None | None | None | None | None | None | None | I |
| V/D | 0.9941 | likely_pathogenic | None | None | -2.002 | Highly Destabilizing | None | None | None | None | None | None | None | None | I |
| V/E | 0.9842 | likely_pathogenic | None | None | -1.762 | Destabilizing | None | None | None | None | None | None | None | None | I |
| V/F | 0.7184 | likely_pathogenic | None | None | -1.109 | Destabilizing | None | None | None | None | None | None | None | None | I |
| V/G | 0.8762 | likely_pathogenic | None | None | -2.54 | Highly Destabilizing | None | None | None | None | None | None | None | None | I |
| V/H | 0.9948 | likely_pathogenic | None | None | -2.194 | Highly Destabilizing | None | None | None | None | None | None | None | None | I |
| V/I | 0.1179 | likely_benign | None | None | -0.395 | Destabilizing | None | None | None | None | None | None | None | None | I |
| V/K | 0.9885 | likely_pathogenic | None | None | -1.383 | Destabilizing | None | None | None | None | None | None | None | None | I |
| V/L | 0.6163 | likely_pathogenic | None | None | -0.395 | Destabilizing | None | None | None | None | None | None | None | None | I |
| V/M | 0.6959 | likely_pathogenic | None | None | -0.555 | Destabilizing | None | None | None | None | None | None | None | None | I |
| V/N | 0.9843 | likely_pathogenic | None | None | -1.707 | Destabilizing | None | None | None | None | None | None | None | None | I |
| V/P | 0.9884 | likely_pathogenic | None | None | -0.895 | Destabilizing | None | None | None | None | None | None | None | None | I |
| V/Q | 0.9833 | likely_pathogenic | None | None | -1.496 | Destabilizing | None | None | None | None | None | None | None | None | I |
| V/R | 0.9791 | likely_pathogenic | None | None | -1.365 | Destabilizing | None | None | None | None | None | None | None | None | I |
| V/S | 0.9417 | likely_pathogenic | None | None | -2.446 | Highly Destabilizing | None | None | None | None | None | None | None | None | I |
| V/T | 0.8741 | likely_pathogenic | None | None | -2.046 | Highly Destabilizing | None | None | None | None | None | None | None | None | I |
| V/W | 0.9956 | likely_pathogenic | None | None | -1.53 | Destabilizing | None | None | None | None | None | None | None | None | I |
| V/Y | 0.971 | likely_pathogenic | None | None | -1.152 | 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.