Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3669 | 11230;11231;11232 | chr2:178756471;178756470;178756469 | chr2:179621198;179621197;179621196 |
| 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 | 3498 | 10717;10718;10719 | chr2:178756471;178756470;178756469 | chr2:179621198;179621197;179621196 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | None | None | None | None | None | 0.257 | None | gnomAD-4.0.0 | 1.59131E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 2.77546E-05 | None | 0 | 0 | 0 | 0 | 0 |
| V/F | rs748260785  |
-1.22 | None | None | None | 0.146 | None | gnomAD-2.1.1 | 3.18E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 6.48E-05 | 0 |
| V/F | rs748260785 |
-1.22 | None | None | None | 0.146 | None | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| V/F | rs748260785 |
-1.22 | None | None | None | 0.146 | None | gnomAD-4.0.0 | 1.2394E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.69519E-06 | 0 | 0 |
| V/I | rs748260785 |
-0.44 | None | None | None | 0.152 | None | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | I | None | 1.29166E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.88E-06 | 0 |
| V/I | rs748260785 |
-0.44 | None | None | None | 0.152 | None | gnomAD-3.1.2 | 3.29E-05 | None | None | None | None | I | None | 7.24E-05 | 0 | 0 | 0 | 0 | None | 0 | 3.16456E-03 | 1.47E-05 | 0 | 0 |
| V/I | rs748260785 |
-0.44 | None | None | None | 0.152 | None | gnomAD-4.0.0 | 3.34613E-05 | None | None | None | None | I | None | 5.33006E-05 | 0 | None | 1.68873E-04 | 0 | None | 0 | 1.65071E-04 | 3.3904E-05 | 2.19568E-05 | 3.20102E-05 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.1555 | likely_benign | None | None | -1.353 | Destabilizing | None | None | None | None | None | None | None | None | I |
| V/C | 0.5787 | likely_pathogenic | None | None | -0.947 | Destabilizing | None | None | None | None | None | None | None | None | I |
| V/D | 0.2865 | likely_benign | None | None | -0.777 | Destabilizing | None | None | None | None | None | None | None | None | I |
| V/E | 0.2077 | likely_benign | None | None | -0.748 | Destabilizing | None | None | None | None | None | None | None | None | I |
| V/F | 0.114 | likely_benign | None | None | -1.002 | Destabilizing | None | None | None | None | None | None | None | None | I |
| V/G | 0.2458 | likely_benign | None | None | -1.698 | Destabilizing | None | None | None | None | None | None | None | None | I |
| V/H | 0.3353 | likely_benign | None | None | -1.25 | Destabilizing | None | None | None | None | None | None | None | None | I |
| V/I | 0.0573 | likely_benign | None | None | -0.501 | Destabilizing | None | None | None | None | None | None | None | None | I |
| V/K | 0.182 | likely_benign | None | None | -0.969 | Destabilizing | None | None | None | None | None | None | None | None | I |
| V/L | 0.0814 | likely_benign | None | None | -0.501 | Destabilizing | None | None | None | None | None | None | None | None | I |
| V/M | 0.0829 | likely_benign | None | None | -0.443 | Destabilizing | None | None | None | None | None | None | None | None | I |
| V/N | 0.1879 | likely_benign | None | None | -0.825 | Destabilizing | None | None | None | None | None | None | None | None | I |
| V/P | 0.808 | likely_pathogenic | None | None | -0.749 | Destabilizing | None | None | None | None | None | None | None | None | I |
| V/Q | 0.2016 | likely_benign | None | None | -0.918 | Destabilizing | None | None | None | None | None | None | None | None | I |
| V/R | 0.1538 | likely_benign | None | None | -0.596 | Destabilizing | None | None | None | None | None | None | None | None | I |
| V/S | 0.188 | likely_benign | None | None | -1.442 | Destabilizing | None | None | None | None | None | None | None | None | I |
| V/T | 0.1397 | likely_benign | None | None | -1.288 | Destabilizing | None | None | None | None | None | None | None | None | I |
| V/W | 0.5906 | likely_pathogenic | None | None | -1.209 | Destabilizing | None | None | None | None | None | None | None | None | I |
| V/Y | 0.3659 | ambiguous | None | None | -0.871 | 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.