Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3542 | 10849;10850;10851 | chr2:178757596;178757595;178757594 | chr2:179622323;179622322;179622321 |
| N2AB | None | None | chr2:None | chr2:None |
| N2A | None | None | chr2:None | chr2:None |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | 3496 | 10711;10712;10713 | chr2:178757596;178757595;178757594 | chr2:179622323;179622322;179622321 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/V | None | None | None | None | None | 0.143 | None | gnomAD-4.0.0 | 3.21352E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.78851E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.4316 | ambiguous | None | None | -1.21 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/D | 0.3334 | likely_benign | None | None | -2.3 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| A/E | 0.2157 | likely_benign | None | None | -2.339 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| A/F | 0.2346 | likely_benign | None | None | -1.319 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/G | 0.1769 | likely_benign | None | None | -1.393 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/H | 0.3948 | ambiguous | None | None | -1.473 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/I | 0.1669 | likely_benign | None | None | -0.666 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/K | 0.2714 | likely_benign | None | None | -1.47 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/L | 0.161 | likely_benign | None | None | -0.666 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/M | 0.1707 | likely_benign | None | None | -0.516 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/N | 0.2243 | likely_benign | None | None | -1.305 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/P | 0.8197 | likely_pathogenic | None | None | -0.794 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/Q | 0.25 | likely_benign | None | None | -1.555 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/R | 0.219 | likely_benign | None | None | -0.998 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/S | 0.0937 | likely_benign | None | None | -1.521 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/T | 0.0642 | likely_benign | None | None | -1.492 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/V | 0.1036 | likely_benign | None | None | -0.794 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/W | 0.6396 | likely_pathogenic | None | None | -1.645 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/Y | 0.4042 | ambiguous | None | None | -1.288 | 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.