Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3549 | 10870;10871;10872 | chr2:178757575;178757574;178757573 | chr2:179622302;179622301;179622300 |
| N2AB | None | None | chr2:None | chr2:None |
| N2A | None | None | chr2:None | chr2:None |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | 3503 | 10732;10733;10734 | chr2:178757575;178757574;178757573 | chr2:179622302;179622301;179622300 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/I | rs770691573  |
-0.05 | None | None | None | 0.146 | None | gnomAD-2.1.1 | 4.18E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 9.19E-06 | 0 |
| T/I | rs770691573 |
-0.05 | None | None | None | 0.146 | None | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
| T/I | rs770691573 |
-0.05 | None | None | None | 0.146 | None | gnomAD-4.0.0 | 2.25601E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 4.4827E-05 | None | 0 | 0 | 2.48186E-05 | 0 | 8.1182E-05 |
| T/S | rs770691573 |
-0.608 | None | None | None | 0.096 | None | gnomAD-2.1.1 | 4.18E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.51E-05 | None | 0 | 0 | 0 |
| T/S | rs770691573 |
-0.608 | None | None | None | 0.096 | None | gnomAD-4.0.0 | 6.92721E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.19042E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.0834 | likely_benign | None | None | -0.646 | Destabilizing | None | None | None | None | None | None | None | None | N |
| T/C | 0.4481 | ambiguous | None | None | -0.364 | Destabilizing | None | None | None | None | None | None | None | None | N |
| T/D | 0.392 | ambiguous | None | None | 0.024 | Stabilizing | None | None | None | None | None | None | None | None | N |
| T/E | 0.3334 | likely_benign | None | None | -0.011 | Destabilizing | None | None | None | None | None | None | None | None | N |
| T/F | 0.1988 | likely_benign | None | None | -0.878 | Destabilizing | None | None | None | None | None | None | None | None | N |
| T/G | 0.3097 | likely_benign | None | None | -0.852 | Destabilizing | None | None | None | None | None | None | None | None | N |
| T/H | 0.2622 | likely_benign | None | None | -1.062 | Destabilizing | None | None | None | None | None | None | None | None | N |
| T/I | 0.1134 | likely_benign | None | None | -0.203 | Destabilizing | None | None | None | None | None | None | None | None | N |
| T/K | 0.275 | likely_benign | None | None | -0.632 | Destabilizing | None | None | None | None | None | None | None | None | N |
| T/L | 0.1075 | likely_benign | None | None | -0.203 | Destabilizing | None | None | None | None | None | None | None | None | N |
| T/M | 0.1148 | likely_benign | None | None | -0.027 | Destabilizing | None | None | None | None | None | None | None | None | N |
| T/N | 0.1378 | likely_benign | None | None | -0.445 | Destabilizing | None | None | None | None | None | None | None | None | N |
| T/P | 0.2915 | likely_benign | None | None | -0.319 | Destabilizing | None | None | None | None | None | None | None | None | N |
| T/Q | 0.2743 | likely_benign | None | None | -0.619 | Destabilizing | None | None | None | None | None | None | None | None | N |
| T/R | 0.2062 | likely_benign | None | None | -0.337 | Destabilizing | None | None | None | None | None | None | None | None | N |
| T/S | 0.1082 | likely_benign | None | None | -0.699 | Destabilizing | None | None | None | None | None | None | None | None | N |
| T/V | 0.1165 | likely_benign | None | None | -0.319 | Destabilizing | None | None | None | None | None | None | None | None | N |
| T/W | 0.6094 | likely_pathogenic | None | None | -0.848 | Destabilizing | None | None | None | None | None | None | None | None | N |
| T/Y | 0.2686 | likely_benign | None | None | -0.61 | Destabilizing | None | None | None | None | None | None | None | None | N |
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.