Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3517 | 10774;10775;10776 | chr2:178757671;178757670;178757669 | chr2:179622398;179622397;179622396 |
| N2AB | None | None | chr2:None | chr2:None |
| N2A | None | None | chr2:None | chr2:None |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | 3471 | 10636;10637;10638 | chr2:178757671;178757670;178757669 | chr2:179622398;179622397;179622396 |
| 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 | 0.124 | None | gnomAD-4.0.0 | 6.84192E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99454E-07 | 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 | 0.2084 | likely_benign | None | None | -0.63 | Destabilizing | None | None | None | None | None | None | None | None | N |
| E/C | 0.9606 | likely_pathogenic | None | None | -0.26 | Destabilizing | None | None | None | None | None | None | None | None | N |
| E/D | 0.1779 | likely_benign | None | None | -0.507 | Destabilizing | None | None | None | None | None | None | None | None | N |
| E/F | 0.9247 | likely_pathogenic | None | None | -0.255 | Destabilizing | None | None | None | None | None | None | None | None | N |
| E/G | 0.2402 | likely_benign | None | None | -0.869 | Destabilizing | None | None | None | None | None | None | None | None | N |
| E/H | 0.7309 | likely_pathogenic | None | None | -0.005 | Destabilizing | None | None | None | None | None | None | None | None | N |
| E/I | 0.6694 | likely_pathogenic | None | None | -0.015 | Destabilizing | None | None | None | None | None | None | None | None | N |
| E/K | 0.2544 | likely_benign | None | None | 0.177 | Stabilizing | None | None | None | None | None | None | None | None | N |
| E/L | 0.7 | likely_pathogenic | None | None | -0.015 | Destabilizing | None | None | None | None | None | None | None | None | N |
| E/M | 0.7572 | likely_pathogenic | None | None | 0.11 | Stabilizing | None | None | None | None | None | None | None | None | N |
| E/N | 0.4066 | ambiguous | None | None | -0.373 | Destabilizing | None | None | None | None | None | None | None | None | N |
| E/P | 0.4986 | ambiguous | None | None | -0.2 | Destabilizing | None | None | None | None | None | None | None | None | N |
| E/Q | 0.2747 | likely_benign | None | None | -0.288 | Destabilizing | None | None | None | None | None | None | None | None | N |
| E/R | 0.4577 | ambiguous | None | None | 0.473 | Stabilizing | None | None | None | None | None | None | None | None | N |
| E/S | 0.3149 | likely_benign | None | None | -0.515 | Destabilizing | None | None | None | None | None | None | None | None | N |
| E/T | 0.3988 | ambiguous | None | None | -0.304 | Destabilizing | None | None | None | None | None | None | None | None | N |
| E/V | 0.4296 | ambiguous | None | None | -0.2 | Destabilizing | None | None | None | None | None | None | None | None | N |
| E/W | 0.9742 | likely_pathogenic | None | None | 0.009 | Stabilizing | None | None | None | None | None | None | None | None | N |
| E/Y | 0.8108 | likely_pathogenic | None | None | 0.015 | Stabilizing | 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.