Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 34979 | 105160;105161;105162 | chr2:178531680;178531679;178531678 | chr2:179396407;179396406;179396405 |
| N2AB | 33338 | 100237;100238;100239 | chr2:178531680;178531679;178531678 | chr2:179396407;179396406;179396405 |
| N2A | 32411 | 97456;97457;97458 | chr2:178531680;178531679;178531678 | chr2:179396407;179396406;179396405 |
| N2B | 25914 | 77965;77966;77967 | chr2:178531680;178531679;178531678 | chr2:179396407;179396406;179396405 |
| Novex-1 | 26039 | 78340;78341;78342 | chr2:178531680;178531679;178531678 | chr2:179396407;179396406;179396405 |
| Novex-2 | 26106 | 78541;78542;78543 | chr2:178531680;178531679;178531678 | chr2:179396407;179396406;179396405 |
| 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 | rs376634193  |
-0.238 | 0.604 | N | 0.552 | 0.349 | None | gnomAD-2.1.1 | 8.91E-05 | None | None | None | None | N | None | 1.23977E-04 | 5.65E-05 | None | 0 | 0 | None | 0 | None | 7.99E-05 | 1.40296E-04 | 0 |
| G/A | rs376634193 |
-0.238 | 0.604 | N | 0.552 | 0.349 | None | gnomAD-3.1.2 | 1.44587E-04 | None | None | None | None | N | None | 9.66E-05 | 0 | 0 | 0 | 0 | None | 1.88537E-04 | 0 | 2.35218E-04 | 0 | 0 |
| G/A | rs376634193 |
-0.238 | 0.604 | N | 0.552 | 0.349 | None | gnomAD-4.0.0 | 1.30744E-04 | None | None | None | None | N | None | 9.34505E-05 | 0 | None | 0 | 0 | None | 3.1248E-05 | 0 | 1.63577E-04 | 0 | 1.44083E-04 |
| G/D | rs376634193 |
None | 0.999 | N | 0.692 | 0.409 | 0.346315397577 | gnomAD-4.0.0 | 4.10485E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.3964E-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 | 0.4578 | ambiguous | 0.6349 | pathogenic | -0.355 | Destabilizing | 0.604 | D | 0.552 | neutral | N | 0.501839622 | None | None | N |
| G/C | 0.7598 | likely_pathogenic | 0.8702 | pathogenic | -0.913 | Destabilizing | 1.0 | D | 0.713 | prob.delet. | N | 0.514209886 | None | None | N |
| G/D | 0.5532 | ambiguous | 0.8063 | pathogenic | -0.417 | Destabilizing | 0.999 | D | 0.692 | prob.neutral | N | 0.478957621 | None | None | N |
| G/E | 0.6912 | likely_pathogenic | 0.8762 | pathogenic | -0.534 | Destabilizing | 0.999 | D | 0.69 | prob.neutral | None | None | None | None | N |
| G/F | 0.9655 | likely_pathogenic | 0.985 | pathogenic | -0.854 | Destabilizing | 1.0 | D | 0.747 | deleterious | None | None | None | None | N |
| G/H | 0.8251 | likely_pathogenic | 0.9336 | pathogenic | -0.504 | Destabilizing | 1.0 | D | 0.707 | prob.neutral | None | None | None | None | N |
| G/I | 0.9417 | likely_pathogenic | 0.978 | pathogenic | -0.341 | Destabilizing | 1.0 | D | 0.733 | prob.delet. | None | None | None | None | N |
| G/K | 0.882 | likely_pathogenic | 0.9521 | pathogenic | -0.874 | Destabilizing | 0.999 | D | 0.69 | prob.neutral | None | None | None | None | N |
| G/L | 0.9242 | likely_pathogenic | 0.9675 | pathogenic | -0.341 | Destabilizing | 0.999 | D | 0.705 | prob.neutral | None | None | None | None | N |
| G/M | 0.9157 | likely_pathogenic | 0.9651 | pathogenic | -0.544 | Destabilizing | 1.0 | D | 0.725 | prob.delet. | None | None | None | None | N |
| G/N | 0.5148 | ambiguous | 0.7632 | pathogenic | -0.623 | Destabilizing | 0.999 | D | 0.694 | prob.neutral | None | None | None | None | N |
| G/P | 0.9974 | likely_pathogenic | 0.9989 | pathogenic | -0.31 | Destabilizing | 0.999 | D | 0.712 | prob.delet. | None | None | None | None | N |
| G/Q | 0.7256 | likely_pathogenic | 0.8723 | pathogenic | -0.82 | Destabilizing | 1.0 | D | 0.729 | prob.delet. | None | None | None | None | N |
| G/R | 0.7503 | likely_pathogenic | 0.8814 | pathogenic | -0.464 | Destabilizing | 0.999 | D | 0.725 | prob.delet. | N | 0.476733928 | None | None | N |
| G/S | 0.1959 | likely_benign | 0.3742 | ambiguous | -0.831 | Destabilizing | 0.997 | D | 0.667 | neutral | N | 0.485176944 | None | None | N |
| G/T | 0.6659 | likely_pathogenic | 0.8375 | pathogenic | -0.862 | Destabilizing | 0.999 | D | 0.684 | prob.neutral | None | None | None | None | N |
| G/V | 0.8975 | likely_pathogenic | 0.9575 | pathogenic | -0.31 | Destabilizing | 0.997 | D | 0.705 | prob.neutral | N | 0.514209886 | None | None | N |
| G/W | 0.9448 | likely_pathogenic | 0.9693 | pathogenic | -1.06 | Destabilizing | 1.0 | D | 0.703 | prob.neutral | None | None | None | None | N |
| G/Y | 0.9215 | likely_pathogenic | 0.9667 | pathogenic | -0.695 | Destabilizing | 1.0 | D | 0.739 | prob.delet. | 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.