Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3479 | 10660;10661;10662 | chr2:178757785;178757784;178757783 | chr2:179622512;179622511;179622510 |
| N2AB | None | None | chr2:None | chr2:None |
| N2A | None | None | chr2:None | chr2:None |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | 3433 | 10522;10523;10524 | chr2:178757785;178757784;178757783 | chr2:179622512;179622511;179622510 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/R | rs746691102  |
-0.861 | None | None | None | 0.598 | None | gnomAD-2.1.1 | 6.79E-05 | None | None | None | None | I | None | 0 | 2.83014E-04 | None | 0 | 5.12E-05 | None | 3.27E-05 | None | 0 | 4.69E-05 | 1.40528E-04 |
| G/R | rs746691102 |
-0.861 | None | None | None | 0.598 | None | gnomAD-3.1.2 | 5.26E-05 | None | None | None | None | I | None | 0 | 6.54E-05 | 0 | 0 | 0 | None | 0 | 0 | 1.02905E-04 | 0 | 0 |
| G/R | rs746691102 |
-0.861 | None | None | None | 0.598 | None | gnomAD-4.0.0 | 7.1275E-05 | None | None | None | None | I | None | 0 | 2.66658E-04 | None | 0 | 0 | None | 0 | 0 | 8.22276E-05 | 1.09842E-05 | 1.60128E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.5196 | ambiguous | None | None | -0.697 | Destabilizing | None | None | None | None | None | None | None | None | I |
| G/C | 0.5778 | likely_pathogenic | None | None | -0.985 | Destabilizing | None | None | None | None | None | None | None | None | I |
| G/D | 0.5261 | ambiguous | None | None | -0.965 | Destabilizing | None | None | None | None | None | None | None | None | I |
| G/E | 0.5381 | ambiguous | None | None | -1.087 | Destabilizing | None | None | None | None | None | None | None | None | I |
| G/F | 0.947 | likely_pathogenic | None | None | -1.249 | Destabilizing | None | None | None | None | None | None | None | None | I |
| G/H | 0.6544 | likely_pathogenic | None | None | -1.038 | Destabilizing | None | None | None | None | None | None | None | None | I |
| G/I | 0.9389 | likely_pathogenic | None | None | -0.581 | Destabilizing | None | None | None | None | None | None | None | None | I |
| G/K | 0.5466 | ambiguous | None | None | -1.123 | Destabilizing | None | None | None | None | None | None | None | None | I |
| G/L | 0.9062 | likely_pathogenic | None | None | -0.581 | Destabilizing | None | None | None | None | None | None | None | None | I |
| G/M | 0.912 | likely_pathogenic | None | None | -0.437 | Destabilizing | None | None | None | None | None | None | None | None | I |
| G/N | 0.597 | likely_pathogenic | None | None | -0.778 | Destabilizing | None | None | None | None | None | None | None | None | I |
| G/P | 0.9935 | likely_pathogenic | None | None | -0.582 | Destabilizing | None | None | None | None | None | None | None | None | I |
| G/Q | 0.5339 | ambiguous | None | None | -1.061 | Destabilizing | None | None | None | None | None | None | None | None | I |
| G/R | 0.3786 | ambiguous | None | None | -0.667 | Destabilizing | None | None | None | None | None | None | None | None | I |
| G/S | 0.2709 | likely_benign | None | None | -1.005 | Destabilizing | None | None | None | None | None | None | None | None | I |
| G/T | 0.6779 | likely_pathogenic | None | None | -1.053 | Destabilizing | None | None | None | None | None | None | None | None | I |
| G/V | 0.8723 | likely_pathogenic | None | None | -0.582 | Destabilizing | None | None | None | None | None | None | None | None | I |
| G/W | 0.8094 | likely_pathogenic | None | None | -1.45 | Destabilizing | None | None | None | None | None | None | None | None | I |
| G/Y | 0.8645 | likely_pathogenic | None | None | -1.092 | 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.