Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3510 | 10753;10754;10755 | chr2:178757692;178757691;178757690 | chr2:179622419;179622418;179622417 |
| N2AB | None | None | chr2:None | chr2:None |
| N2A | None | None | chr2:None | chr2:None |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | 3464 | 10615;10616;10617 | chr2:178757692;178757691;178757690 | chr2:179622419;179622418;179622417 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/E | None | None | None | None | None | 0.033 | None | gnomAD-4.0.0 | 1.20034E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.31252E-06 | 0 | 0 |
| D/Y | rs770135769  |
0.71 | None | None | None | 0.24 | 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 |
| D/Y | rs770135769 |
0.71 | None | None | None | 0.24 | None | gnomAD-4.0.0 | 2.56212E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.39287E-06 | 1.33998E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.3644 | ambiguous | None | None | -0.316 | Destabilizing | None | None | None | None | None | None | None | None | N |
| D/C | 0.9011 | likely_pathogenic | None | None | -0.073 | Destabilizing | None | None | None | None | None | None | None | None | N |
| D/E | 0.261 | likely_benign | None | None | -0.434 | Destabilizing | None | None | None | None | None | None | None | None | N |
| D/F | 0.8645 | likely_pathogenic | None | None | -0.213 | Destabilizing | None | None | None | None | None | None | None | None | N |
| D/G | 0.2987 | likely_benign | None | None | -0.56 | Destabilizing | None | None | None | None | None | None | None | None | N |
| D/H | 0.466 | ambiguous | None | None | -0.295 | Destabilizing | None | None | None | None | None | None | None | None | N |
| D/I | 0.7708 | likely_pathogenic | None | None | 0.291 | Stabilizing | None | None | None | None | None | None | None | None | N |
| D/K | 0.5863 | likely_pathogenic | None | None | -0.079 | Destabilizing | None | None | None | None | None | None | None | None | N |
| D/L | 0.7437 | likely_pathogenic | None | None | 0.291 | Stabilizing | None | None | None | None | None | None | None | None | N |
| D/M | 0.8724 | likely_pathogenic | None | None | 0.466 | Stabilizing | None | None | None | None | None | None | None | None | N |
| D/N | 0.1431 | likely_benign | None | None | -0.312 | Destabilizing | None | None | None | None | None | None | None | None | N |
| D/P | 0.9018 | likely_pathogenic | None | None | 0.113 | Stabilizing | None | None | None | None | None | None | None | None | N |
| D/Q | 0.5648 | likely_pathogenic | None | None | -0.243 | Destabilizing | None | None | None | None | None | None | None | None | N |
| D/R | 0.6258 | likely_pathogenic | None | None | 0.087 | Stabilizing | None | None | None | None | None | None | None | None | N |
| D/S | 0.2577 | likely_benign | None | None | -0.453 | Destabilizing | None | None | None | None | None | None | None | None | N |
| D/T | 0.4671 | ambiguous | None | None | -0.272 | Destabilizing | None | None | None | None | None | None | None | None | N |
| D/V | 0.5607 | ambiguous | None | None | 0.113 | Stabilizing | None | None | None | None | None | None | None | None | N |
| D/W | 0.961 | likely_pathogenic | None | None | -0.112 | Destabilizing | None | None | None | None | None | None | None | None | N |
| D/Y | 0.4051 | ambiguous | None | None | -0.007 | 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.