Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3531 | 10816;10817;10818 | chr2:178757629;178757628;178757627 | chr2:179622356;179622355;179622354 |
| N2AB | None | None | chr2:None | chr2:None |
| N2A | None | None | chr2:None | chr2:None |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | 3485 | 10678;10679;10680 | chr2:178757629;178757628;178757627 | chr2:179622356;179622355;179622354 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/L | None | None | None | None | None | 0.116 | None | gnomAD-4.0.0 | 1.59152E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85894E-06 | 0 | 0 |
| S/T | rs1422997760  |
-0.034 | None | None | None | 0.09 | None | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.89E-06 | 0 |
| S/T | rs1422997760 |
-0.034 | None | None | None | 0.09 | None | gnomAD-4.0.0 | 3.18301E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.71788E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.094 | likely_benign | None | None | -0.392 | Destabilizing | None | None | None | None | None | None | None | None | I |
| S/C | 0.2077 | likely_benign | None | None | -0.334 | Destabilizing | None | None | None | None | None | None | None | None | I |
| S/D | 0.5272 | ambiguous | None | None | -0.148 | Destabilizing | None | None | None | None | None | None | None | None | I |
| S/E | 0.5755 | likely_pathogenic | None | None | -0.207 | Destabilizing | None | None | None | None | None | None | None | None | I |
| S/F | 0.4494 | ambiguous | None | None | -0.749 | Destabilizing | None | None | None | None | None | None | None | None | I |
| S/G | 0.1474 | likely_benign | None | None | -0.569 | Destabilizing | None | None | None | None | None | None | None | None | I |
| S/H | 0.4763 | ambiguous | None | None | -0.986 | Destabilizing | None | None | None | None | None | None | None | None | I |
| S/I | 0.3344 | likely_benign | None | None | -0.047 | Destabilizing | None | None | None | None | None | None | None | None | I |
| S/K | 0.7537 | likely_pathogenic | None | None | -0.772 | Destabilizing | None | None | None | None | None | None | None | None | I |
| S/L | 0.187 | likely_benign | None | None | -0.047 | Destabilizing | None | None | None | None | None | None | None | None | I |
| S/M | 0.4039 | ambiguous | None | None | 0.065 | Stabilizing | None | None | None | None | None | None | None | None | I |
| S/N | 0.2551 | likely_benign | None | None | -0.512 | Destabilizing | None | None | None | None | None | None | None | None | I |
| S/P | 0.158 | likely_benign | None | None | -0.131 | Destabilizing | None | None | None | None | None | None | None | None | I |
| S/Q | 0.5713 | likely_pathogenic | None | None | -0.693 | Destabilizing | None | None | None | None | None | None | None | None | I |
| S/R | 0.6028 | likely_pathogenic | None | None | -0.52 | Destabilizing | None | None | None | None | None | None | None | None | I |
| S/T | 0.1408 | likely_benign | None | None | -0.548 | Destabilizing | None | None | None | None | None | None | None | None | I |
| S/V | 0.3353 | likely_benign | None | None | -0.131 | Destabilizing | None | None | None | None | None | None | None | None | I |
| S/W | 0.5333 | ambiguous | None | None | -0.796 | Destabilizing | None | None | None | None | None | None | None | None | I |
| S/Y | 0.3906 | ambiguous | None | None | -0.536 | 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.