Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3541 | 10846;10847;10848 | chr2:178757599;178757598;178757597 | chr2:179622326;179622325;179622324 |
| N2AB | None | None | chr2:None | chr2:None |
| N2A | None | None | chr2:None | chr2:None |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | 3495 | 10708;10709;10710 | chr2:178757599;178757598;178757597 | chr2:179622326;179622325;179622324 |
| 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/P | rs762211144  |
-0.854 | None | None | None | 0.451 | None | gnomAD-4.0.0 | 1.6053E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 1.89251E-04 | 0 | 0 | 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 | 0.9419 | likely_pathogenic | None | None | -1.551 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/D | 0.9948 | likely_pathogenic | None | None | -2.923 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| A/E | 0.9857 | likely_pathogenic | None | None | -2.779 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| A/F | 0.9616 | likely_pathogenic | None | None | -0.871 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/G | 0.4866 | ambiguous | None | None | -1.816 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/H | 0.9971 | likely_pathogenic | None | None | -1.997 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/I | 0.7794 | likely_pathogenic | None | None | -0.369 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/K | 0.9976 | likely_pathogenic | None | None | -1.54 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/L | 0.7455 | likely_pathogenic | None | None | -0.369 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/M | 0.8642 | likely_pathogenic | None | None | -0.622 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/N | 0.9926 | likely_pathogenic | None | None | -1.776 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/P | 0.9924 | likely_pathogenic | None | None | -0.681 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/Q | 0.9891 | likely_pathogenic | None | None | -1.685 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/R | 0.9918 | likely_pathogenic | None | None | -1.428 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/S | 0.5655 | likely_pathogenic | None | None | -2.096 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| A/T | 0.6747 | likely_pathogenic | None | None | -1.859 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/V | 0.4472 | ambiguous | None | None | -0.681 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/W | 0.998 | likely_pathogenic | None | None | -1.562 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/Y | 0.9899 | likely_pathogenic | None | None | -1.141 | 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.