Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3516 | 10771;10772;10773 | chr2:178757674;178757673;178757672 | chr2:179622401;179622400;179622399 |
| N2AB | None | None | chr2:None | chr2:None |
| N2A | None | None | chr2:None | chr2:None |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | 3470 | 10633;10634;10635 | chr2:178757674;178757673;178757672 | chr2:179622401;179622400;179622399 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/K | None | None | None | None | None | 0.22 | None | gnomAD-4.0.0 | 2.05257E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.69836E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/A | 0.6103 | likely_pathogenic | None | None | -0.988 | Destabilizing | None | None | None | None | None | None | None | None | I |
| E/C | 0.9805 | likely_pathogenic | None | None | -0.412 | Destabilizing | None | None | None | None | None | None | None | None | I |
| E/D | 0.5228 | ambiguous | None | None | -0.824 | Destabilizing | None | None | None | None | None | None | None | None | I |
| E/F | 0.9799 | likely_pathogenic | None | None | -0.593 | Destabilizing | None | None | None | None | None | None | None | None | I |
| E/G | 0.6541 | likely_pathogenic | None | None | -1.295 | Destabilizing | None | None | None | None | None | None | None | None | I |
| E/H | 0.8609 | likely_pathogenic | None | None | -0.742 | Destabilizing | None | None | None | None | None | None | None | None | I |
| E/I | 0.9041 | likely_pathogenic | None | None | -0.164 | Destabilizing | None | None | None | None | None | None | None | None | I |
| E/K | 0.5348 | ambiguous | None | None | -0.523 | Destabilizing | None | None | None | None | None | None | None | None | I |
| E/L | 0.88 | likely_pathogenic | None | None | -0.164 | Destabilizing | None | None | None | None | None | None | None | None | I |
| E/M | 0.9072 | likely_pathogenic | None | None | 0.29 | Stabilizing | None | None | None | None | None | None | None | None | I |
| E/N | 0.8116 | likely_pathogenic | None | None | -0.904 | Destabilizing | None | None | None | None | None | None | None | None | I |
| E/P | 0.971 | likely_pathogenic | None | None | -0.419 | Destabilizing | None | None | None | None | None | None | None | None | I |
| E/Q | 0.3767 | ambiguous | None | None | -0.805 | Destabilizing | None | None | None | None | None | None | None | None | I |
| E/R | 0.6801 | likely_pathogenic | None | None | -0.24 | Destabilizing | None | None | None | None | None | None | None | None | I |
| E/S | 0.6671 | likely_pathogenic | None | None | -1.17 | Destabilizing | None | None | None | None | None | None | None | None | I |
| E/T | 0.7661 | likely_pathogenic | None | None | -0.92 | Destabilizing | None | None | None | None | None | None | None | None | I |
| E/V | 0.7607 | likely_pathogenic | None | None | -0.419 | Destabilizing | None | None | None | None | None | None | None | None | I |
| E/W | 0.9901 | likely_pathogenic | None | None | -0.332 | Destabilizing | None | None | None | None | None | None | None | None | I |
| E/Y | 0.9612 | likely_pathogenic | None | None | -0.356 | Destabilizing | None | None | None | None | None | None | None | None | I |
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.