Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3480 | 10663;10664;10665 | chr2:178757782;178757781;178757780 | chr2:179622509;179622508;179622507 |
| N2AB | None | None | chr2:None | chr2:None |
| N2A | None | None | chr2:None | chr2:None |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | 3434 | 10525;10526;10527 | chr2:178757782;178757781;178757780 | chr2:179622509;179622508;179622507 |
| 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/D | rs267599081  |
-0.53 | None | None | None | 0.171 | None | gnomAD-2.1.1 | 8.04E-06 | None | None | None | None | I | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 8.89E-06 | 0 |
| E/D | rs267599081 |
-0.53 | None | None | None | 0.171 | None | gnomAD-4.0.0 | 2.05275E-06 | None | None | None | None | I | None | 0 | 4.47207E-05 | None | 0 | 0 | None | 0 | 0 | 8.99536E-07 | 0 | 0 |
| E/V | rs1023713962 |
-0.275 | None | None | None | 0.194 | None | gnomAD-2.1.1 | 8.04E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.78E-05 | 0 |
| E/V | rs1023713962 |
-0.275 | None | None | None | 0.194 | None | gnomAD-4.0.0 | 1.77899E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.33873E-05 | 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 | 0.4741 | ambiguous | None | None | -0.501 | Destabilizing | None | None | None | None | None | None | None | None | I |
| E/C | 0.9716 | likely_pathogenic | None | None | 0.009 | Stabilizing | None | None | None | None | None | None | None | None | I |
| E/D | 0.2836 | likely_benign | None | None | -0.686 | Destabilizing | None | None | None | None | None | None | None | None | I |
| E/F | 0.9611 | likely_pathogenic | None | None | -0.521 | Destabilizing | None | None | None | None | None | None | None | None | I |
| E/G | 0.4653 | ambiguous | None | None | -0.754 | Destabilizing | None | None | None | None | None | None | None | None | I |
| E/H | 0.8312 | likely_pathogenic | None | None | -0.714 | Destabilizing | None | None | None | None | None | None | None | None | I |
| E/I | 0.8899 | likely_pathogenic | None | None | 0.149 | Stabilizing | None | None | None | None | None | None | None | None | I |
| E/K | 0.3756 | ambiguous | None | None | -0.105 | Destabilizing | None | None | None | None | None | None | None | None | I |
| E/L | 0.8854 | likely_pathogenic | None | None | 0.149 | Stabilizing | None | None | None | None | None | None | None | None | I |
| E/M | 0.8349 | likely_pathogenic | None | None | 0.534 | Stabilizing | None | None | None | None | None | None | None | None | I |
| E/N | 0.5687 | likely_pathogenic | None | None | -0.308 | Destabilizing | None | None | None | None | None | None | None | None | I |
| E/P | 0.9921 | likely_pathogenic | None | None | -0.046 | Destabilizing | None | None | None | None | None | None | None | None | I |
| E/Q | 0.3021 | likely_benign | None | None | -0.257 | Destabilizing | None | None | None | None | None | None | None | None | I |
| E/R | 0.6003 | likely_pathogenic | None | None | -0.003 | Destabilizing | None | None | None | None | None | None | None | None | I |
| E/S | 0.5303 | ambiguous | None | None | -0.52 | Destabilizing | None | None | None | None | None | None | None | None | I |
| E/T | 0.6763 | likely_pathogenic | None | None | -0.326 | Destabilizing | None | None | None | None | None | None | None | None | I |
| E/V | 0.7136 | likely_pathogenic | None | None | -0.046 | Destabilizing | None | None | None | None | None | None | None | None | I |
| E/W | 0.9897 | likely_pathogenic | None | None | -0.445 | Destabilizing | None | None | None | None | None | None | None | None | I |
| E/Y | 0.9197 | likely_pathogenic | None | None | -0.312 | 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.