Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3556 | 10891;10892;10893 | chr2:178757554;178757553;178757552 | chr2:179622281;179622280;179622279 |
| N2AB | None | None | chr2:None | chr2:None |
| N2A | None | None | chr2:None | chr2:None |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | 3510 | 10753;10754;10755 | chr2:178757554;178757553;178757552 | chr2:179622281;179622280;179622279 |
| 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/M | rs1039409681  |
-0.642 | None | None | None | 0.407 | None | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 6.48E-05 | 0 |
| V/M | rs1039409681 |
-0.642 | None | None | None | 0.407 | None | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| V/M | rs1039409681 |
-0.642 | None | None | None | 0.407 | None | gnomAD-4.0.0 | 5.39533E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.01048E-05 | 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 | 0.812 | likely_pathogenic | None | None | -1.707 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/C | 0.9836 | likely_pathogenic | None | None | -1.254 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/D | 0.9854 | likely_pathogenic | None | None | -1.895 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/E | 0.948 | likely_pathogenic | None | None | -1.896 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/F | 0.8155 | likely_pathogenic | None | None | -1.446 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/G | 0.9015 | likely_pathogenic | None | None | -2.019 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| V/H | 0.992 | likely_pathogenic | None | None | -1.538 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/I | 0.1188 | likely_benign | None | None | -0.936 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/K | 0.9683 | likely_pathogenic | None | None | -1.33 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/L | 0.6476 | likely_pathogenic | None | None | -0.936 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/M | 0.62 | likely_pathogenic | None | None | -0.731 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/N | 0.958 | likely_pathogenic | None | None | -1.185 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/P | 0.9788 | likely_pathogenic | None | None | -1.161 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/Q | 0.9627 | likely_pathogenic | None | None | -1.407 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/R | 0.9541 | likely_pathogenic | None | None | -0.787 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/S | 0.9212 | likely_pathogenic | None | None | -1.686 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/T | 0.8545 | likely_pathogenic | None | None | -1.585 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/W | 0.9975 | likely_pathogenic | None | None | -1.628 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/Y | 0.9853 | likely_pathogenic | None | None | -1.337 | 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.