Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3715 | 11368;11369;11370 | chr2:178756333;178756332;178756331 | chr2:179621060;179621059;179621058 |
| 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 | 3544 | 10855;10856;10857 | chr2:178756333;178756332;178756331 | chr2:179621060;179621059;179621058 |
| 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/H | None | None | None | None | None | 0.043 | None | gnomAD-4.0.0 | 1.20033E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.31251E-06 | 0 | 0 |
| Q/P | None | None | None | None | None | 0.058 | None | gnomAD-4.0.0 | 1.59117E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85811E-06 | 0 | 0 |
| Q/R | rs912850872  |
None | None | None | None | 0.071 | None | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| Q/R | rs912850872 |
None | None | None | None | 0.071 | None | gnomAD-4.0.0 | 6.56978E-06 | None | None | None | None | N | None | 2.41173E-05 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/A | 0.295 | likely_benign | None | None | -1.253 | Destabilizing | None | None | None | None | None | None | None | None | N |
| Q/C | 0.5217 | ambiguous | None | None | -0.641 | Destabilizing | None | None | None | None | None | None | None | None | N |
| Q/D | 0.5867 | likely_pathogenic | None | None | -2.208 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| Q/E | 0.1253 | likely_benign | None | None | -1.845 | Destabilizing | None | None | None | None | None | None | None | None | N |
| Q/F | 0.6286 | likely_pathogenic | None | None | -0.591 | Destabilizing | None | None | None | None | None | None | None | None | N |
| Q/G | 0.4433 | ambiguous | None | None | -1.737 | Destabilizing | None | None | None | None | None | None | None | None | N |
| Q/H | 0.1814 | likely_benign | None | None | -1.223 | Destabilizing | None | None | None | None | None | None | None | None | N |
| Q/I | 0.3618 | ambiguous | None | None | 0.106 | Stabilizing | None | None | None | None | None | None | None | None | N |
| Q/K | 0.1587 | likely_benign | None | None | -0.42 | Destabilizing | None | None | None | None | None | None | None | None | N |
| Q/L | 0.1556 | likely_benign | None | None | 0.106 | Stabilizing | None | None | None | None | None | None | None | None | N |
| Q/M | 0.4412 | ambiguous | None | None | 0.135 | Stabilizing | None | None | None | None | None | None | None | None | N |
| Q/N | 0.3964 | ambiguous | None | None | -1.418 | Destabilizing | None | None | None | None | None | None | None | None | N |
| Q/P | 0.4845 | ambiguous | None | None | -0.325 | Destabilizing | None | None | None | None | None | None | None | None | N |
| Q/R | 0.1234 | likely_benign | None | None | -0.802 | Destabilizing | None | None | None | None | None | None | None | None | N |
| Q/S | 0.3293 | likely_benign | None | None | -1.73 | Destabilizing | None | None | None | None | None | None | None | None | N |
| Q/T | 0.2558 | likely_benign | None | None | -1.181 | Destabilizing | None | None | None | None | None | None | None | None | N |
| Q/V | 0.2628 | likely_benign | None | None | -0.325 | Destabilizing | None | None | None | None | None | None | None | None | N |
| Q/W | 0.5203 | ambiguous | None | None | -0.75 | Destabilizing | None | None | None | None | None | None | None | None | N |
| Q/Y | 0.3606 | ambiguous | None | None | -0.328 | 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.