Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3530 | 10813;10814;10815 | chr2:178757632;178757631;178757630 | chr2:179622359;179622358;179622357 |
| N2AB | None | None | chr2:None | chr2:None |
| N2A | None | None | chr2:None | chr2:None |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | 3484 | 10675;10676;10677 | chr2:178757632;178757631;178757630 | chr2:179622359;179622358;179622357 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Y/C | None | None | None | None | None | 0.212 | None | gnomAD-4.0.0 | 2.05276E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.69859E-06 | 0 | 0 |
| Y/F | rs755931621  |
-0.614 | None | None | None | 0.103 | None | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 2.67E-05 | 0 |
| Y/F | rs755931621 |
-0.614 | None | None | None | 0.103 | 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 |
| Y/F | rs755931621 |
-0.614 | None | None | None | 0.103 | None | gnomAD-4.0.0 | 2.47891E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.39063E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Y/A | 0.4929 | ambiguous | None | None | -1.633 | Destabilizing | None | None | None | None | None | None | None | None | N |
| Y/C | 0.1877 | likely_benign | None | None | -0.111 | Destabilizing | None | None | None | None | None | None | None | None | N |
| Y/D | 0.2932 | likely_benign | None | None | 0.047 | Stabilizing | None | None | None | None | None | None | None | None | N |
| Y/E | 0.6607 | likely_pathogenic | None | None | 0.06 | Stabilizing | None | None | None | None | None | None | None | None | N |
| Y/F | 0.1125 | likely_benign | None | None | -0.949 | Destabilizing | None | None | None | None | None | None | None | None | N |
| Y/G | 0.4117 | ambiguous | None | None | -1.895 | Destabilizing | None | None | None | None | None | None | None | None | N |
| Y/H | 0.1897 | likely_benign | None | None | -0.586 | Destabilizing | None | None | None | None | None | None | None | None | N |
| Y/I | 0.6337 | likely_pathogenic | None | None | -0.893 | Destabilizing | None | None | None | None | None | None | None | None | N |
| Y/K | 0.5763 | likely_pathogenic | None | None | -0.332 | Destabilizing | None | None | None | None | None | None | None | None | N |
| Y/L | 0.4968 | ambiguous | None | None | -0.893 | Destabilizing | None | None | None | None | None | None | None | None | N |
| Y/M | 0.7348 | likely_pathogenic | None | None | -0.386 | Destabilizing | None | None | None | None | None | None | None | None | N |
| Y/N | 0.1907 | likely_benign | None | None | -0.392 | Destabilizing | None | None | None | None | None | None | None | None | N |
| Y/P | 0.8524 | likely_pathogenic | None | None | -1.126 | Destabilizing | None | None | None | None | None | None | None | None | N |
| Y/Q | 0.5086 | ambiguous | None | None | -0.427 | Destabilizing | None | None | None | None | None | None | None | None | N |
| Y/R | 0.3414 | ambiguous | None | None | 0.117 | Stabilizing | None | None | None | None | None | None | None | None | N |
| Y/S | 0.1588 | likely_benign | None | None | -0.912 | Destabilizing | None | None | None | None | None | None | None | None | N |
| Y/T | 0.4226 | ambiguous | None | None | -0.807 | Destabilizing | None | None | None | None | None | None | None | None | N |
| Y/V | 0.4672 | ambiguous | None | None | -1.126 | Destabilizing | None | None | None | None | None | None | None | None | N |
| Y/W | 0.4876 | ambiguous | None | None | -0.829 | 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.