Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 9133 | 27622;27623;27624 | chr2:178712525;178712524;178712523 | chr2:179577252;179577251;179577250 |
| N2AB | 8816 | 26671;26672;26673 | chr2:178712525;178712524;178712523 | chr2:179577252;179577251;179577250 |
| N2A | 7889 | 23890;23891;23892 | chr2:178712525;178712524;178712523 | chr2:179577252;179577251;179577250 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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 | None | None | 0.022 | N | 0.305 | 0.192 | 0.132336055621 | gnomAD-4.0.0 | 6.84281E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99517E-07 | 0 | 0 |
| G/D | None | None | 0.966 | N | 0.763 | 0.265 | 0.273938319068 | gnomAD-4.0.0 | 6.84282E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99518E-07 | 0 | 0 |
| G/S | None | None | 0.669 | N | 0.643 | 0.134 | 0.177238962908 | gnomAD-4.0.0 | 8.89577E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.16937E-05 | 0 | 0 |
| G/V | rs773438838  |
0.471 | 0.051 | N | 0.594 | 0.23 | None | gnomAD-2.1.1 | 8.05E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 6.54E-05 | None | 0 | 0 | 0 |
| G/V | rs773438838 |
0.471 | 0.051 | N | 0.594 | 0.23 | None | gnomAD-4.0.0 | 1.36856E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 2.31911E-05 | 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 | 0.0766 | likely_benign | 0.0757 | benign | -0.419 | Destabilizing | 0.022 | N | 0.305 | neutral | N | 0.406392942 | None | None | N |
| G/C | 0.1507 | likely_benign | 0.1513 | benign | -0.598 | Destabilizing | 0.005 | N | 0.537 | neutral | N | 0.28125764 | None | None | N |
| G/D | 0.835 | likely_pathogenic | 0.8266 | pathogenic | -1.838 | Destabilizing | 0.966 | D | 0.763 | deleterious | N | 0.455652434 | None | None | N |
| G/E | 0.8096 | likely_pathogenic | 0.8001 | pathogenic | -1.636 | Destabilizing | 0.974 | D | 0.781 | deleterious | None | None | None | None | N |
| G/F | 0.8625 | likely_pathogenic | 0.8496 | pathogenic | -0.333 | Destabilizing | 0.974 | D | 0.824 | deleterious | None | None | None | None | N |
| G/H | 0.9251 | likely_pathogenic | 0.9177 | pathogenic | -1.762 | Destabilizing | 0.998 | D | 0.799 | deleterious | None | None | None | None | N |
| G/I | 0.3214 | likely_benign | 0.3167 | benign | 0.76 | Stabilizing | 0.728 | D | 0.78 | deleterious | None | None | None | None | N |
| G/K | 0.9727 | likely_pathogenic | 0.9687 | pathogenic | -0.684 | Destabilizing | 0.949 | D | 0.783 | deleterious | None | None | None | None | N |
| G/L | 0.5449 | ambiguous | 0.5183 | ambiguous | 0.76 | Stabilizing | 0.525 | D | 0.749 | deleterious | None | None | None | None | N |
| G/M | 0.5633 | ambiguous | 0.5407 | ambiguous | 0.398 | Stabilizing | 0.974 | D | 0.824 | deleterious | None | None | None | None | N |
| G/N | 0.6902 | likely_pathogenic | 0.6763 | pathogenic | -0.982 | Destabilizing | 0.991 | D | 0.701 | prob.neutral | None | None | None | None | N |
| G/P | 0.9895 | likely_pathogenic | 0.9877 | pathogenic | 0.412 | Stabilizing | 0.974 | D | 0.775 | deleterious | None | None | None | None | N |
| G/Q | 0.8951 | likely_pathogenic | 0.8837 | pathogenic | -0.729 | Destabilizing | 0.991 | D | 0.795 | deleterious | None | None | None | None | N |
| G/R | 0.9394 | likely_pathogenic | 0.9345 | pathogenic | -1.016 | Destabilizing | 0.966 | D | 0.789 | deleterious | N | 0.455652434 | None | None | N |
| G/S | 0.1009 | likely_benign | 0.0996 | benign | -1.293 | Destabilizing | 0.669 | D | 0.643 | neutral | N | 0.440969663 | None | None | N |
| G/T | 0.1584 | likely_benign | 0.1523 | benign | -0.97 | Destabilizing | 0.842 | D | 0.748 | deleterious | None | None | None | None | N |
| G/V | 0.1619 | likely_benign | 0.1615 | benign | 0.412 | Stabilizing | 0.051 | N | 0.594 | neutral | N | 0.399253539 | None | None | N |
| G/W | 0.8923 | likely_pathogenic | 0.8808 | pathogenic | -1.264 | Destabilizing | 0.998 | D | 0.797 | deleterious | None | None | None | None | N |
| G/Y | 0.8136 | likely_pathogenic | 0.8084 | pathogenic | -0.571 | Destabilizing | 0.991 | D | 0.823 | 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.