Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3720 | 11383;11384;11385 | chr2:178756318;178756317;178756316 | chr2:179621045;179621044;179621043 |
| 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 | 3549 | 10870;10871;10872 | chr2:178756318;178756317;178756316 | chr2:179621045;179621044;179621043 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/S | rs1356555138  |
-0.692 | None | None | None | 0.105 | None | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| C/S | rs1356555138 |
-0.692 | None | None | None | 0.105 | None | gnomAD-4.0.0 | 1.36838E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 2.31863E-05 | 0 |
| C/W | None | None | None | None | None | 0.07 | None | gnomAD-4.0.0 | 2.73683E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 4.63747E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/A | 0.2821 | likely_benign | None | None | -0.974 | Destabilizing | None | None | None | None | None | None | None | None | I |
| C/D | 0.2484 | likely_benign | None | None | -0.551 | Destabilizing | None | None | None | None | None | None | None | None | I |
| C/E | 0.3447 | ambiguous | None | None | -0.485 | Destabilizing | None | None | None | None | None | None | None | None | I |
| C/F | 0.1273 | likely_benign | None | None | -0.869 | Destabilizing | None | None | None | None | None | None | None | None | I |
| C/G | 0.1025 | likely_benign | None | None | -1.215 | Destabilizing | None | None | None | None | None | None | None | None | I |
| C/H | 0.157 | likely_benign | None | None | -1.644 | Destabilizing | None | None | None | None | None | None | None | None | I |
| C/I | 0.3803 | ambiguous | None | None | -0.397 | Destabilizing | None | None | None | None | None | None | None | None | I |
| C/K | 0.3317 | likely_benign | None | None | -0.333 | Destabilizing | None | None | None | None | None | None | None | None | I |
| C/L | 0.3238 | likely_benign | None | None | -0.397 | Destabilizing | None | None | None | None | None | None | None | None | I |
| C/M | 0.5288 | ambiguous | None | None | 0.067 | Stabilizing | None | None | None | None | None | None | None | None | I |
| C/N | 0.2071 | likely_benign | None | None | -0.339 | Destabilizing | None | None | None | None | None | None | None | None | I |
| C/P | 0.7079 | likely_pathogenic | None | None | -0.563 | Destabilizing | None | None | None | None | None | None | None | None | I |
| C/Q | 0.2285 | likely_benign | None | None | -0.386 | Destabilizing | None | None | None | None | None | None | None | None | I |
| C/R | 0.112 | likely_benign | None | None | -0.344 | Destabilizing | None | None | None | None | None | None | None | None | I |
| C/S | 0.1324 | likely_benign | None | None | -0.684 | Destabilizing | None | None | None | None | None | None | None | None | I |
| C/T | 0.262 | likely_benign | None | None | -0.465 | Destabilizing | None | None | None | None | None | None | None | None | I |
| C/V | 0.3667 | ambiguous | None | None | -0.563 | Destabilizing | None | None | None | None | None | None | None | None | I |
| C/W | 0.2168 | likely_benign | None | None | -1.009 | Destabilizing | None | None | None | None | None | None | None | None | I |
| C/Y | 0.1097 | likely_benign | None | None | -0.784 | 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.