Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3728 | 11407;11408;11409 | chr2:178756294;178756293;178756292 | chr2:179621021;179621020;179621019 |
| N2AB | None | None | chr2:None | chr2:None |
| N2A | None | None | chr2:None | chr2:None |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | 3557 | 10894;10895;10896 | chr2:178756294;178756293;178756292 | chr2:179621021;179621020;179621019 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/R | None | None | None | None | None | 0.41 | None | gnomAD-4.0.0 | 1.59119E-06 | None | None | None | None | I | None | 0 | 2.28655E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.5437 | ambiguous | None | None | -0.571 | Destabilizing | None | None | None | None | None | None | None | None | I |
| G/C | 0.8399 | likely_pathogenic | None | None | -0.545 | Destabilizing | None | None | None | None | None | None | None | None | I |
| G/D | 0.7805 | likely_pathogenic | None | None | -1.545 | Destabilizing | None | None | None | None | None | None | None | None | I |
| G/E | 0.8438 | likely_pathogenic | None | None | -1.452 | Destabilizing | None | None | None | None | None | None | None | None | I |
| G/F | 0.9663 | likely_pathogenic | None | None | -0.67 | Destabilizing | None | None | None | None | None | None | None | None | I |
| G/H | 0.9586 | likely_pathogenic | None | None | -1.641 | Destabilizing | None | None | None | None | None | None | None | None | I |
| G/I | 0.9368 | likely_pathogenic | None | None | 0.287 | Stabilizing | None | None | None | None | None | None | None | None | I |
| G/K | 0.9382 | likely_pathogenic | None | None | -1.012 | Destabilizing | None | None | None | None | None | None | None | None | I |
| G/L | 0.9503 | likely_pathogenic | None | None | 0.287 | Stabilizing | None | None | None | None | None | None | None | None | I |
| G/M | 0.9678 | likely_pathogenic | None | None | 0.279 | Stabilizing | None | None | None | None | None | None | None | None | I |
| G/N | 0.9064 | likely_pathogenic | None | None | -0.992 | Destabilizing | None | None | None | None | None | None | None | None | I |
| G/P | 0.9935 | likely_pathogenic | None | None | 0.045 | Stabilizing | None | None | None | None | None | None | None | None | I |
| G/Q | 0.9306 | likely_pathogenic | None | None | -0.935 | Destabilizing | None | None | None | None | None | None | None | None | I |
| G/R | 0.8906 | likely_pathogenic | None | None | -1.012 | Destabilizing | None | None | None | None | None | None | None | None | I |
| G/S | 0.5399 | ambiguous | None | None | -1.301 | Destabilizing | None | None | None | None | None | None | None | None | I |
| G/T | 0.8789 | likely_pathogenic | None | None | -1.11 | Destabilizing | None | None | None | None | None | None | None | None | I |
| G/V | 0.8674 | likely_pathogenic | None | None | 0.045 | Stabilizing | None | None | None | None | None | None | None | None | I |
| G/W | 0.9533 | likely_pathogenic | None | None | -1.417 | Destabilizing | None | None | None | None | None | None | None | None | I |
| G/Y | 0.9382 | likely_pathogenic | None | None | -0.806 | 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.