Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3543 | 10852;10853;10854 | chr2:178757593;178757592;178757591 | chr2:179622320;179622319;179622318 |
| N2AB | None | None | chr2:None | chr2:None |
| N2A | None | None | chr2:None | chr2:None |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | 3497 | 10714;10715;10716 | chr2:178757593;178757592;178757591 | chr2:179622320;179622319;179622318 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/S | rs777330837  |
-0.882 | None | None | None | 0.191 | None | gnomAD-2.1.1 | 3.24E-05 | None | None | None | None | N | None | 0 | 2.56717E-04 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| N/S | rs777330837 |
-0.882 | None | None | None | 0.191 | None | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 0 | 6.55E-05 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| N/S | rs777330837 |
-0.882 | None | None | None | 0.191 | None | gnomAD-4.0.0 | 9.95109E-06 | None | None | None | None | N | None | 0 | 1.67218E-04 | None | 0 | 0 | None | 0 | 0 | 5.10402E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/A | 0.9624 | likely_pathogenic | None | None | -0.544 | Destabilizing | None | None | None | None | None | None | None | None | N |
| N/C | 0.889 | likely_pathogenic | None | None | 0.012 | Stabilizing | None | None | None | None | None | None | None | None | N |
| N/D | 0.9085 | likely_pathogenic | None | None | -1.364 | Destabilizing | None | None | None | None | None | None | None | None | N |
| N/E | 0.9948 | likely_pathogenic | None | None | -1.302 | Destabilizing | None | None | None | None | None | None | None | None | N |
| N/F | 0.9947 | likely_pathogenic | None | None | -0.581 | Destabilizing | None | None | None | None | None | None | None | None | N |
| N/G | 0.9239 | likely_pathogenic | None | None | -0.831 | Destabilizing | None | None | None | None | None | None | None | None | N |
| N/H | 0.9124 | likely_pathogenic | None | None | -0.788 | Destabilizing | None | None | None | None | None | None | None | None | N |
| N/I | 0.9685 | likely_pathogenic | None | None | 0.163 | Stabilizing | None | None | None | None | None | None | None | None | N |
| N/K | 0.9925 | likely_pathogenic | None | None | -0.239 | Destabilizing | None | None | None | None | None | None | None | None | N |
| N/L | 0.9429 | likely_pathogenic | None | None | 0.163 | Stabilizing | None | None | None | None | None | None | None | None | N |
| N/M | 0.9828 | likely_pathogenic | None | None | 0.727 | Stabilizing | None | None | None | None | None | None | None | None | N |
| N/P | 0.988 | likely_pathogenic | None | None | -0.044 | Destabilizing | None | None | None | None | None | None | None | None | N |
| N/Q | 0.9934 | likely_pathogenic | None | None | -1.069 | Destabilizing | None | None | None | None | None | None | None | None | N |
| N/R | 0.989 | likely_pathogenic | None | None | -0.137 | Destabilizing | None | None | None | None | None | None | None | None | N |
| N/S | 0.4087 | ambiguous | None | None | -0.767 | Destabilizing | None | None | None | None | None | None | None | None | N |
| N/T | 0.7767 | likely_pathogenic | None | None | -0.551 | Destabilizing | None | None | None | None | None | None | None | None | N |
| N/V | 0.9523 | likely_pathogenic | None | None | -0.044 | Destabilizing | None | None | None | None | None | None | None | None | N |
| N/W | 0.999 | likely_pathogenic | None | None | -0.459 | Destabilizing | None | None | None | None | None | None | None | None | N |
| N/Y | 0.9601 | likely_pathogenic | None | None | -0.157 | 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.