Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3673 | 11242;11243;11244 | chr2:178756459;178756458;178756457 | chr2:179621186;179621185;179621184 |
| N2AB | None | None | chr2:None | chr2:None |
| N2A | None | None | chr2:None | chr2:None |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | 3502 | 10729;10730;10731 | chr2:178756459;178756458;178756457 | chr2:179621186;179621185;179621184 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/Y | None | None | None | None | None | 0.061 | None | gnomAD-4.0.0 | 2.40066E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.62502E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/A | 0.2961 | likely_benign | None | None | -1.083 | Destabilizing | None | None | None | None | None | None | None | None | I |
| C/D | 0.4517 | ambiguous | None | None | 0.239 | Stabilizing | None | None | None | None | None | None | None | None | I |
| C/E | 0.4961 | ambiguous | None | None | 0.24 | Stabilizing | None | None | None | None | None | None | None | None | I |
| C/F | 0.1843 | likely_benign | None | None | -0.824 | Destabilizing | None | None | None | None | None | None | None | None | I |
| C/G | 0.1522 | likely_benign | None | None | -1.283 | Destabilizing | None | None | None | None | None | None | None | None | I |
| C/H | 0.3274 | likely_benign | None | None | -1.243 | Destabilizing | None | None | None | None | None | None | None | None | I |
| C/I | 0.3852 | ambiguous | None | None | -0.623 | Destabilizing | None | None | None | None | None | None | None | None | I |
| C/K | 0.5352 | ambiguous | None | None | -0.311 | Destabilizing | None | None | None | None | None | None | None | None | I |
| C/L | 0.3774 | ambiguous | None | None | -0.623 | Destabilizing | None | None | None | None | None | None | None | None | I |
| C/M | 0.5678 | likely_pathogenic | None | None | -0.037 | Destabilizing | None | None | None | None | None | None | None | None | I |
| C/N | 0.3374 | likely_benign | None | None | -0.011 | Destabilizing | None | None | None | None | None | None | None | None | I |
| C/P | 0.5384 | ambiguous | None | None | -0.751 | Destabilizing | None | None | None | None | None | None | None | None | I |
| C/Q | 0.3942 | ambiguous | None | None | -0.134 | Destabilizing | None | None | None | None | None | None | None | None | I |
| C/R | 0.2114 | likely_benign | None | None | 0.019 | Stabilizing | None | None | None | None | None | None | None | None | I |
| C/S | 0.2072 | likely_benign | None | None | -0.543 | Destabilizing | None | None | None | None | None | None | None | None | I |
| C/T | 0.3523 | ambiguous | None | None | -0.396 | Destabilizing | None | None | None | None | None | None | None | None | I |
| C/V | 0.3479 | ambiguous | None | None | -0.751 | Destabilizing | None | None | None | None | None | None | None | None | I |
| C/W | 0.3128 | likely_benign | None | None | -0.741 | Destabilizing | None | None | None | None | None | None | None | None | I |
| C/Y | 0.1547 | likely_benign | None | None | -0.681 | 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.