Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 28714 | 86365;86366;86367 | chr2:178559992;178559991;178559990 | chr2:179424719;179424718;179424717 |
| N2AB | 27073 | 81442;81443;81444 | chr2:178559992;178559991;178559990 | chr2:179424719;179424718;179424717 |
| N2A | 26146 | 78661;78662;78663 | chr2:178559992;178559991;178559990 | chr2:179424719;179424718;179424717 |
| N2B | 19649 | 59170;59171;59172 | chr2:178559992;178559991;178559990 | chr2:179424719;179424718;179424717 |
| Novex-1 | 19774 | 59545;59546;59547 | chr2:178559992;178559991;178559990 | chr2:179424719;179424718;179424717 |
| Novex-2 | 19841 | 59746;59747;59748 | chr2:178559992;178559991;178559990 | chr2:179424719;179424718;179424717 |
| 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/R | rs532818379  |
-0.004 | 0.998 | D | 0.695 | 0.409 | 0.691364277267 | gnomAD-2.1.1 | 3.22E-05 | None | None | None | None | N | None | 1.24069E-04 | 8.49E-05 | None | 0 | 0 | None | 9.81E-05 | None | 0 | 0 | 0 |
| G/R | rs532818379 |
-0.004 | 0.998 | D | 0.695 | 0.409 | 0.691364277267 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 2.41E-05 | 1.31044E-04 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/R | rs532818379 |
-0.004 | 0.998 | D | 0.695 | 0.409 | 0.691364277267 | 1000 genomes | 3.99361E-04 | None | None | None | None | N | None | 0 | 2.9E-03 | None | None | 0 | 0 | None | None | None | 0 | None |
| G/R | rs532818379 |
-0.004 | 0.998 | D | 0.695 | 0.409 | 0.691364277267 | gnomAD-4.0.0 | 1.30139E-05 | None | None | None | None | N | None | 3.99925E-05 | 1.00007E-04 | None | 3.37815E-05 | 0 | None | 0 | 0 | 3.39043E-06 | 6.58819E-05 | 1.60087E-05 |
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 | 0.1488 | likely_benign | 0.152 | benign | -0.182 | Destabilizing | 0.235 | N | 0.318 | neutral | N | 0.498990283 | None | None | N |
| G/C | 0.2352 | likely_benign | 0.2195 | benign | -0.881 | Destabilizing | 1.0 | D | 0.735 | prob.delet. | None | None | None | None | N |
| G/D | 0.1698 | likely_benign | 0.165 | benign | -0.039 | Destabilizing | 0.998 | D | 0.705 | prob.neutral | None | None | None | None | N |
| G/E | 0.217 | likely_benign | 0.2222 | benign | -0.175 | Destabilizing | 0.993 | D | 0.711 | prob.delet. | D | 0.523007548 | None | None | N |
| G/F | 0.5711 | likely_pathogenic | 0.5549 | ambiguous | -0.817 | Destabilizing | 1.0 | D | 0.759 | deleterious | None | None | None | None | N |
| G/H | 0.329 | likely_benign | 0.2963 | benign | -0.4 | Destabilizing | 1.0 | D | 0.709 | prob.delet. | None | None | None | None | N |
| G/I | 0.3905 | ambiguous | 0.3921 | ambiguous | -0.255 | Destabilizing | 0.995 | D | 0.743 | deleterious | None | None | None | None | N |
| G/K | 0.3884 | ambiguous | 0.3619 | ambiguous | -0.577 | Destabilizing | 0.635 | D | 0.373 | neutral | None | None | None | None | N |
| G/L | 0.4256 | ambiguous | 0.413 | ambiguous | -0.255 | Destabilizing | 0.995 | D | 0.717 | prob.delet. | None | None | None | None | N |
| G/M | 0.4598 | ambiguous | 0.4468 | ambiguous | -0.465 | Destabilizing | 1.0 | D | 0.731 | prob.delet. | None | None | None | None | N |
| G/N | 0.1874 | likely_benign | 0.1746 | benign | -0.292 | Destabilizing | 0.998 | D | 0.743 | deleterious | None | None | None | None | N |
| G/P | 0.8049 | likely_pathogenic | 0.8377 | pathogenic | -0.198 | Destabilizing | 0.998 | D | 0.711 | prob.delet. | None | None | None | None | N |
| G/Q | 0.2921 | likely_benign | 0.2792 | benign | -0.479 | Destabilizing | 0.995 | D | 0.726 | prob.delet. | None | None | None | None | N |
| G/R | 0.3015 | likely_benign | 0.2917 | benign | -0.27 | Destabilizing | 0.998 | D | 0.695 | prob.neutral | D | 0.529973593 | None | None | N |
| G/S | 0.0996 | likely_benign | 0.0986 | benign | -0.527 | Destabilizing | 0.966 | D | 0.663 | neutral | None | None | None | None | N |
| G/T | 0.1786 | likely_benign | 0.1744 | benign | -0.568 | Destabilizing | 0.995 | D | 0.701 | prob.neutral | None | None | None | None | N |
| G/V | 0.2826 | likely_benign | 0.2862 | benign | -0.198 | Destabilizing | 0.987 | D | 0.717 | prob.delet. | N | 0.517855006 | None | None | N |
| G/W | 0.4978 | ambiguous | 0.489 | ambiguous | -0.991 | Destabilizing | 1.0 | D | 0.712 | prob.delet. | None | None | None | None | N |
| G/Y | 0.4345 | ambiguous | 0.41 | ambiguous | -0.618 | Destabilizing | 1.0 | D | 0.758 | deleterious | 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.