Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3744 | 11455;11456;11457 | chr2:178756246;178756245;178756244 | chr2:179620973;179620972;179620971 |
| 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 | 3573 | 10942;10943;10944 | chr2:178756246;178756245;178756244 | chr2:179620973;179620972;179620971 |
| 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 | rs794729387  |
None | None | None | None | 0.134 | None | gnomAD-4.0.0 | 6.85115E-07 | None | None | None | None | I | None | 2.99079E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 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 | 0.0865 | likely_benign | None | None | -0.718 | Destabilizing | None | None | None | None | None | None | None | None | I |
| S/C | 0.1603 | likely_benign | None | None | -0.46 | Destabilizing | None | None | None | None | None | None | None | None | I |
| S/D | 0.3834 | ambiguous | None | None | -0.021 | Destabilizing | None | None | None | None | None | None | None | None | I |
| S/E | 0.3905 | ambiguous | None | None | -0.06 | Destabilizing | None | None | None | None | None | None | None | None | I |
| S/F | 0.2221 | likely_benign | None | None | -1.049 | Destabilizing | None | None | None | None | None | None | None | None | I |
| S/G | 0.1349 | likely_benign | None | None | -0.919 | Destabilizing | None | None | None | None | None | None | None | None | I |
| S/H | 0.3231 | likely_benign | None | None | -1.414 | Destabilizing | None | None | None | None | None | None | None | None | I |
| S/I | 0.2309 | likely_benign | None | None | -0.3 | Destabilizing | None | None | None | None | None | None | None | None | I |
| S/K | 0.498 | ambiguous | None | None | -0.628 | Destabilizing | None | None | None | None | None | None | None | None | I |
| S/L | 0.1374 | likely_benign | None | None | -0.3 | Destabilizing | None | None | None | None | None | None | None | None | I |
| S/M | 0.2472 | likely_benign | None | None | 0.032 | Stabilizing | None | None | None | None | None | None | None | None | I |
| S/N | 0.171 | likely_benign | None | None | -0.476 | Destabilizing | None | None | None | None | None | None | None | None | I |
| S/P | 0.666 | likely_pathogenic | None | None | -0.407 | Destabilizing | None | None | None | None | None | None | None | None | I |
| S/Q | 0.4263 | ambiguous | None | None | -0.7 | Destabilizing | None | None | None | None | None | None | None | None | I |
| S/R | 0.3608 | ambiguous | None | None | -0.47 | Destabilizing | None | None | None | None | None | None | None | None | I |
| S/T | 0.0766 | likely_benign | None | None | -0.572 | Destabilizing | None | None | None | None | None | None | None | None | I |
| S/V | 0.2034 | likely_benign | None | None | -0.407 | Destabilizing | None | None | None | None | None | None | None | None | I |
| S/W | 0.3809 | ambiguous | None | None | -0.984 | Destabilizing | None | None | None | None | None | None | None | None | I |
| S/Y | 0.1845 | likely_benign | None | None | -0.733 | 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.