Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3533 | 10822;10823;10824 | chr2:178757623;178757622;178757621 | chr2:179622350;179622349;179622348 |
| N2AB | None | None | chr2:None | chr2:None |
| N2A | None | None | chr2:None | chr2:None |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | 3487 | 10684;10685;10686 | chr2:178757623;178757622;178757621 | chr2:179622350;179622349;179622348 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| H/P | None | None | None | None | None | 0.302 | None | gnomAD-4.0.0 | 1.59176E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85954E-06 | 0 | 0 |
| H/Q | rs1351766559  |
None | None | None | None | 0.216 | None | gnomAD-4.0.0 | 1.59185E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85974E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| H/A | 0.8342 | likely_pathogenic | None | None | -1.786 | Destabilizing | None | None | None | None | None | None | None | None | N |
| H/C | 0.7256 | likely_pathogenic | None | None | -0.767 | Destabilizing | None | None | None | None | None | None | None | None | N |
| H/D | 0.3494 | ambiguous | None | None | -1.809 | Destabilizing | None | None | None | None | None | None | None | None | N |
| H/E | 0.7467 | likely_pathogenic | None | None | -1.628 | Destabilizing | None | None | None | None | None | None | None | None | N |
| H/F | 0.7051 | likely_pathogenic | None | None | 0.036 | Stabilizing | None | None | None | None | None | None | None | None | N |
| H/G | 0.8663 | likely_pathogenic | None | None | -2.213 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| H/I | 0.8584 | likely_pathogenic | None | None | -0.527 | Destabilizing | None | None | None | None | None | None | None | None | N |
| H/K | 0.7643 | likely_pathogenic | None | None | -1.149 | Destabilizing | None | None | None | None | None | None | None | None | N |
| H/L | 0.4968 | ambiguous | None | None | -0.527 | Destabilizing | None | None | None | None | None | None | None | None | N |
| H/M | 0.8326 | likely_pathogenic | None | None | -0.606 | Destabilizing | None | None | None | None | None | None | None | None | N |
| H/N | 0.1959 | likely_benign | None | None | -1.786 | Destabilizing | None | None | None | None | None | None | None | None | N |
| H/P | 0.8435 | likely_pathogenic | None | None | -0.937 | Destabilizing | None | None | None | None | None | None | None | None | N |
| H/Q | 0.5452 | ambiguous | None | None | -1.448 | Destabilizing | None | None | None | None | None | None | None | None | N |
| H/R | 0.6328 | likely_pathogenic | None | None | -1.474 | Destabilizing | None | None | None | None | None | None | None | None | N |
| H/S | 0.684 | likely_pathogenic | None | None | -1.819 | Destabilizing | None | None | None | None | None | None | None | None | N |
| H/T | 0.8154 | likely_pathogenic | None | None | -1.515 | Destabilizing | None | None | None | None | None | None | None | None | N |
| H/V | 0.8294 | likely_pathogenic | None | None | -0.937 | Destabilizing | None | None | None | None | None | None | None | None | N |
| H/W | 0.8433 | likely_pathogenic | None | None | 0.614 | Stabilizing | None | None | None | None | None | None | None | None | N |
| H/Y | 0.2676 | likely_benign | None | None | 0.395 | Stabilizing | 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.