Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 13889 | 41890;41891;41892 | chr2:178635659;178635658;178635657 | chr2:179500386;179500385;179500384 |
| N2AB | 12248 | 36967;36968;36969 | chr2:178635659;178635658;178635657 | chr2:179500386;179500385;179500384 |
| N2A | 11321 | 34186;34187;34188 | chr2:178635659;178635658;178635657 | chr2:179500386;179500385;179500384 |
| N2B | 4824 | 14695;14696;14697 | chr2:178635659;178635658;178635657 | chr2:179500386;179500385;179500384 |
| Novex-1 | 4949 | 15070;15071;15072 | chr2:178635659;178635658;178635657 | chr2:179500386;179500385;179500384 |
| Novex-2 | 5016 | 15271;15272;15273 | chr2:178635659;178635658;178635657 | chr2:179500386;179500385;179500384 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | rs1029116705  |
None | None | N | 0.15 | 0.106 | 0.0846915920261 | gnomAD-4.0.0 | 3.45193E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 1.73913E-04 | 1.80995E-06 | 1.18881E-05 | 1.66856E-05 |
| G/E | rs1029116705 |
-1.447 | 0.001 | N | 0.364 | 0.1 | 0.187945064343 | gnomAD-2.1.1 | 4.39E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 9.83E-06 | 0 |
| G/E | rs1029116705 |
-1.447 | 0.001 | N | 0.364 | 0.1 | 0.187945064343 | gnomAD-4.0.0 | 6.90386E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.04976E-07 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.3486 | ambiguous | 0.3875 | ambiguous | -0.543 | Destabilizing | None | N | 0.15 | neutral | N | 0.429942256 | None | None | N |
| G/C | 0.8879 | likely_pathogenic | 0.8946 | pathogenic | -0.911 | Destabilizing | 0.685 | D | 0.542 | neutral | None | None | None | None | N |
| G/D | 0.7071 | likely_pathogenic | 0.7565 | pathogenic | -0.973 | Destabilizing | 0.039 | N | 0.487 | neutral | None | None | None | None | N |
| G/E | 0.7209 | likely_pathogenic | 0.7822 | pathogenic | -1.128 | Destabilizing | 0.001 | N | 0.364 | neutral | N | 0.434197855 | None | None | N |
| G/F | 0.976 | likely_pathogenic | 0.9785 | pathogenic | -1.272 | Destabilizing | 0.366 | N | 0.562 | neutral | None | None | None | None | N |
| G/H | 0.96 | likely_pathogenic | 0.9676 | pathogenic | -0.892 | Destabilizing | 0.869 | D | 0.483 | neutral | None | None | None | None | N |
| G/I | 0.9477 | likely_pathogenic | 0.9517 | pathogenic | -0.58 | Destabilizing | 0.221 | N | 0.549 | neutral | None | None | None | None | N |
| G/K | 0.9604 | likely_pathogenic | 0.9711 | pathogenic | -0.998 | Destabilizing | 0.075 | N | 0.417 | neutral | None | None | None | None | N |
| G/L | 0.9454 | likely_pathogenic | 0.9509 | pathogenic | -0.58 | Destabilizing | 0.039 | N | 0.465 | neutral | None | None | None | None | N |
| G/M | 0.9277 | likely_pathogenic | 0.9384 | pathogenic | -0.397 | Destabilizing | 0.685 | D | 0.545 | neutral | None | None | None | None | N |
| G/N | 0.8188 | likely_pathogenic | 0.8334 | pathogenic | -0.633 | Destabilizing | 0.075 | N | 0.558 | neutral | None | None | None | None | N |
| G/P | 0.9987 | likely_pathogenic | 0.9989 | pathogenic | -0.533 | Destabilizing | 0.221 | N | 0.454 | neutral | None | None | None | None | N |
| G/Q | 0.8598 | likely_pathogenic | 0.8867 | pathogenic | -0.966 | Destabilizing | 0.221 | N | 0.465 | neutral | None | None | None | None | N |
| G/R | 0.9476 | likely_pathogenic | 0.9584 | pathogenic | -0.53 | Destabilizing | 0.177 | N | 0.455 | neutral | N | 0.450739982 | None | None | N |
| G/S | 0.3432 | ambiguous | 0.3742 | ambiguous | -0.78 | Destabilizing | 0.003 | N | 0.33 | neutral | None | None | None | None | N |
| G/T | 0.6908 | likely_pathogenic | 0.7271 | pathogenic | -0.873 | Destabilizing | 0.001 | N | 0.361 | neutral | None | None | None | None | N |
| G/V | 0.8743 | likely_pathogenic | 0.8867 | pathogenic | -0.533 | Destabilizing | 0.03 | N | 0.452 | neutral | N | 0.453785179 | None | None | N |
| G/W | 0.9725 | likely_pathogenic | 0.9735 | pathogenic | -1.433 | Destabilizing | 0.833 | D | 0.531 | neutral | N | 0.454907728 | None | None | N |
| G/Y | 0.95 | likely_pathogenic | 0.9546 | pathogenic | -1.082 | Destabilizing | 0.366 | N | 0.569 | neutral | 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.