Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3528 | 10807;10808;10809 | chr2:178757638;178757637;178757636 | chr2:179622365;179622364;179622363 |
| N2AB | None | None | chr2:None | chr2:None |
| N2A | None | None | chr2:None | chr2:None |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | 3482 | 10669;10670;10671 | chr2:178757638;178757637;178757636 | chr2:179622365;179622364;179622363 |
| 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/Y | None | None | None | None | None | 0.433 | None | gnomAD-4.0.0 | 1.59155E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85897E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.6332 | likely_pathogenic | None | None | -0.59 | Destabilizing | None | None | None | None | None | None | None | None | N |
| D/C | 0.964 | likely_pathogenic | None | None | -0.253 | Destabilizing | None | None | None | None | None | None | None | None | N |
| D/E | 0.5285 | ambiguous | None | None | -0.676 | Destabilizing | None | None | None | None | None | None | None | None | N |
| D/F | 0.9644 | likely_pathogenic | None | None | -0.294 | Destabilizing | None | None | None | None | None | None | None | None | N |
| D/G | 0.5291 | ambiguous | None | None | -0.911 | Destabilizing | None | None | None | None | None | None | None | None | N |
| D/H | 0.7422 | likely_pathogenic | None | None | -0.589 | Destabilizing | None | None | None | None | None | None | None | None | N |
| D/I | 0.9594 | likely_pathogenic | None | None | 0.248 | Stabilizing | None | None | None | None | None | None | None | None | N |
| D/K | 0.8385 | likely_pathogenic | None | None | -0.528 | Destabilizing | None | None | None | None | None | None | None | None | N |
| D/L | 0.9159 | likely_pathogenic | None | None | 0.248 | Stabilizing | None | None | None | None | None | None | None | None | N |
| D/M | 0.9769 | likely_pathogenic | None | None | 0.682 | Stabilizing | None | None | None | None | None | None | None | None | N |
| D/N | 0.267 | likely_benign | None | None | -0.861 | Destabilizing | None | None | None | None | None | None | None | None | N |
| D/P | 0.9658 | likely_pathogenic | None | None | -0.007 | Destabilizing | None | None | None | None | None | None | None | None | N |
| D/Q | 0.8242 | likely_pathogenic | None | None | -0.733 | Destabilizing | None | None | None | None | None | None | None | None | N |
| D/R | 0.8327 | likely_pathogenic | None | None | -0.326 | Destabilizing | None | None | None | None | None | None | None | None | N |
| D/S | 0.4158 | ambiguous | None | None | -1.081 | Destabilizing | None | None | None | None | None | None | None | None | N |
| D/T | 0.8185 | likely_pathogenic | None | None | -0.829 | Destabilizing | None | None | None | None | None | None | None | None | N |
| D/V | 0.8755 | likely_pathogenic | None | None | -0.007 | Destabilizing | None | None | None | None | None | None | None | None | N |
| D/W | 0.9908 | likely_pathogenic | None | None | -0.145 | Destabilizing | None | None | None | None | None | None | None | None | N |
| D/Y | 0.7532 | 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.