Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3738 | 11437;11438;11439 | chr2:178756264;178756263;178756262 | chr2:179620991;179620990;179620989 |
| 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 | 3567 | 10924;10925;10926 | chr2:178756264;178756263;178756262 | chr2:179620991;179620990;179620989 |
| 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/F | rs1216398376  |
-0.744 | None | None | None | 0.13 | 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 |
| C/F | rs1216398376 |
-0.744 | None | None | None | 0.13 | None | gnomAD-4.0.0 | 2.05309E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 2.51991E-05 | None | 0 | 0 | 1.79935E-06 | 0 | 0 |
| C/Y | None | None | None | None | None | 0.131 | None | gnomAD-4.0.0 | 2.05309E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.69902E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/A | 0.1918 | likely_benign | None | None | -0.563 | Destabilizing | None | None | None | None | None | None | None | None | I |
| C/D | 0.1549 | likely_benign | None | None | 0.223 | Stabilizing | None | None | None | None | None | None | None | None | I |
| C/E | 0.279 | likely_benign | None | None | 0.167 | Stabilizing | None | None | None | None | None | None | None | None | I |
| C/F | 0.0751 | likely_benign | None | None | -0.666 | Destabilizing | None | None | None | None | None | None | None | None | I |
| C/G | 0.0924 | likely_benign | None | None | -0.654 | Destabilizing | None | None | None | None | None | None | None | None | I |
| C/H | 0.104 | likely_benign | None | None | -0.517 | Destabilizing | None | None | None | None | None | None | None | None | I |
| C/I | 0.2172 | likely_benign | None | None | -0.407 | Destabilizing | None | None | None | None | None | None | None | None | I |
| C/K | 0.2541 | likely_benign | None | None | 0.056 | Stabilizing | None | None | None | None | None | None | None | None | I |
| C/L | 0.2105 | likely_benign | None | None | -0.407 | Destabilizing | None | None | None | None | None | None | None | None | I |
| C/M | 0.3619 | ambiguous | None | None | 0.038 | Stabilizing | None | None | None | None | None | None | None | None | I |
| C/N | 0.1465 | likely_benign | None | None | 0.466 | Stabilizing | None | None | None | None | None | None | None | None | I |
| C/P | 0.743 | likely_pathogenic | None | None | -0.438 | Destabilizing | None | None | None | None | None | None | None | None | I |
| C/Q | 0.171 | likely_benign | None | None | 0.249 | Stabilizing | None | None | None | None | None | None | None | None | I |
| C/R | 0.0912 | likely_benign | None | None | 0.456 | Stabilizing | None | None | None | None | None | None | None | None | I |
| C/S | 0.1126 | likely_benign | None | None | 0.031 | Stabilizing | None | None | None | None | None | None | None | None | I |
| C/T | 0.2112 | likely_benign | None | None | 0.072 | Stabilizing | None | None | None | None | None | None | None | None | I |
| C/V | 0.2371 | likely_benign | None | None | -0.438 | Destabilizing | None | None | None | None | None | None | None | None | I |
| C/W | 0.1391 | likely_benign | None | None | -0.625 | Destabilizing | None | None | None | None | None | None | None | None | I |
| C/Y | 0.0638 | likely_benign | None | None | -0.476 | 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.