Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 35657 | 107194;107195;107196 | chr2:178528782;178528781;178528780 | chr2:179393509;179393508;179393507 |
| N2AB | 34016 | 102271;102272;102273 | chr2:178528782;178528781;178528780 | chr2:179393509;179393508;179393507 |
| N2A | 33089 | 99490;99491;99492 | chr2:178528782;178528781;178528780 | chr2:179393509;179393508;179393507 |
| N2B | 26592 | 79999;80000;80001 | chr2:178528782;178528781;178528780 | chr2:179393509;179393508;179393507 |
| Novex-1 | 26717 | 80374;80375;80376 | chr2:178528782;178528781;178528780 | chr2:179393509;179393508;179393507 |
| Novex-2 | 26784 | 80575;80576;80577 | chr2:178528782;178528781;178528780 | chr2:179393509;179393508;179393507 |
| 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/D | None | None | 1.0 | N | 0.613 | 0.533 | 0.171388866994 | gnomAD-4.0.0 | 1.59445E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86623E-06 | 0 | 0 |
| G/S | rs2154131322  |
None | 1.0 | N | 0.618 | 0.497 | 0.152612264143 | gnomAD-4.0.0 | 1.59416E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86569E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.2859 | likely_benign | 0.2802 | benign | -0.255 | Destabilizing | 1.0 | D | 0.555 | neutral | N | 0.465852251 | None | None | N |
| G/C | 0.6021 | likely_pathogenic | 0.6054 | pathogenic | -0.966 | Destabilizing | 1.0 | D | 0.663 | neutral | N | 0.46706576 | None | None | N |
| G/D | 0.3966 | ambiguous | 0.3871 | ambiguous | -0.427 | Destabilizing | 1.0 | D | 0.613 | neutral | N | 0.46394531 | None | None | N |
| G/E | 0.4192 | ambiguous | 0.4076 | ambiguous | -0.577 | Destabilizing | 1.0 | D | 0.646 | neutral | None | None | None | None | N |
| G/F | 0.8493 | likely_pathogenic | 0.8437 | pathogenic | -0.979 | Destabilizing | 1.0 | D | 0.647 | neutral | None | None | None | None | N |
| G/H | 0.6798 | likely_pathogenic | 0.6746 | pathogenic | -0.301 | Destabilizing | 1.0 | D | 0.619 | neutral | None | None | None | None | N |
| G/I | 0.6609 | likely_pathogenic | 0.6568 | pathogenic | -0.508 | Destabilizing | 1.0 | D | 0.651 | neutral | None | None | None | None | N |
| G/K | 0.6136 | likely_pathogenic | 0.6231 | pathogenic | -0.542 | Destabilizing | 1.0 | D | 0.646 | neutral | None | None | None | None | N |
| G/L | 0.7543 | likely_pathogenic | 0.7429 | pathogenic | -0.508 | Destabilizing | 1.0 | D | 0.673 | neutral | None | None | None | None | N |
| G/M | 0.8291 | likely_pathogenic | 0.8161 | pathogenic | -0.621 | Destabilizing | 1.0 | D | 0.655 | neutral | None | None | None | None | N |
| G/N | 0.492 | ambiguous | 0.4689 | ambiguous | -0.309 | Destabilizing | 1.0 | D | 0.611 | neutral | None | None | None | None | N |
| G/P | 0.9181 | likely_pathogenic | 0.919 | pathogenic | -0.4 | Destabilizing | 1.0 | D | 0.643 | neutral | None | None | None | None | N |
| G/Q | 0.547 | ambiguous | 0.5411 | ambiguous | -0.55 | Destabilizing | 1.0 | D | 0.639 | neutral | None | None | None | None | N |
| G/R | 0.4422 | ambiguous | 0.4481 | ambiguous | -0.168 | Destabilizing | 1.0 | D | 0.637 | neutral | N | 0.465852251 | None | None | N |
| G/S | 0.1683 | likely_benign | 0.1624 | benign | -0.479 | Destabilizing | 1.0 | D | 0.618 | neutral | N | 0.464465385 | None | None | N |
| G/T | 0.4528 | ambiguous | 0.4464 | ambiguous | -0.561 | Destabilizing | 1.0 | D | 0.645 | neutral | None | None | None | None | N |
| G/V | 0.5168 | ambiguous | 0.5044 | ambiguous | -0.4 | Destabilizing | 1.0 | D | 0.671 | neutral | N | 0.466719043 | None | None | N |
| G/W | 0.7354 | likely_pathogenic | 0.741 | pathogenic | -1.063 | Destabilizing | 1.0 | D | 0.635 | neutral | None | None | None | None | N |
| G/Y | 0.7613 | likely_pathogenic | 0.7549 | pathogenic | -0.762 | Destabilizing | 1.0 | D | 0.645 | 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.