Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3503 | 10732;10733;10734 | chr2:178757713;178757712;178757711 | chr2:179622440;179622439;179622438 |
| N2AB | None | None | chr2:None | chr2:None |
| N2A | None | None | chr2:None | chr2:None |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | 3457 | 10594;10595;10596 | chr2:178757713;178757712;178757711 | chr2:179622440;179622439;179622438 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/K | rs766605515  |
-0.523 | None | None | None | 0.142 | None | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| Q/K | rs766605515 |
-0.523 | None | None | None | 0.142 | None | gnomAD-4.0.0 | 3.18222E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 2.86549E-05 | 0 |
| Q/P | rs2087738229 |
None | None | None | None | 0.205 | 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 |
| Q/P | rs2087738229 |
None | None | None | None | 0.205 | None | gnomAD-4.0.0 | 2.02992E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.40992E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/A | 0.3533 | ambiguous | None | None | -0.425 | Destabilizing | None | None | None | None | None | None | None | None | N |
| Q/C | 0.7344 | likely_pathogenic | None | None | 0.114 | Stabilizing | None | None | None | None | None | None | None | None | N |
| Q/D | 0.4922 | ambiguous | None | None | -0.188 | Destabilizing | None | None | None | None | None | None | None | None | N |
| Q/E | 0.1109 | likely_benign | None | None | -0.154 | Destabilizing | None | None | None | None | None | None | None | None | N |
| Q/F | 0.8098 | likely_pathogenic | None | None | -0.319 | Destabilizing | None | None | None | None | None | None | None | None | N |
| Q/G | 0.4762 | ambiguous | None | None | -0.7 | Destabilizing | None | None | None | None | None | None | None | None | N |
| Q/H | 0.2694 | likely_benign | None | None | -0.54 | Destabilizing | None | None | None | None | None | None | None | None | N |
| Q/I | 0.5211 | ambiguous | None | None | 0.245 | Stabilizing | None | None | None | None | None | None | None | None | N |
| Q/K | 0.1161 | likely_benign | None | None | -0.331 | Destabilizing | None | None | None | None | None | None | None | None | N |
| Q/L | 0.2253 | likely_benign | None | None | 0.245 | Stabilizing | None | None | None | None | None | None | None | None | N |
| Q/M | 0.5105 | ambiguous | None | None | 0.418 | Stabilizing | None | None | None | None | None | None | None | None | N |
| Q/N | 0.3392 | likely_benign | None | None | -0.616 | Destabilizing | None | None | None | None | None | None | None | None | N |
| Q/P | 0.7285 | likely_pathogenic | None | None | 0.051 | Stabilizing | None | None | None | None | None | None | None | None | N |
| Q/R | 0.139 | likely_benign | None | None | -0.199 | Destabilizing | None | None | None | None | None | None | None | None | N |
| Q/S | 0.3665 | ambiguous | None | None | -0.637 | Destabilizing | None | None | None | None | None | None | None | None | N |
| Q/T | 0.2994 | likely_benign | None | None | -0.441 | Destabilizing | None | None | None | None | None | None | None | None | N |
| Q/V | 0.3714 | ambiguous | None | None | 0.051 | Stabilizing | None | None | None | None | None | None | None | None | N |
| Q/W | 0.7465 | likely_pathogenic | None | None | -0.298 | Destabilizing | None | None | None | None | None | None | None | None | N |
| Q/Y | 0.5938 | likely_pathogenic | None | None | -0.09 | 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.