Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 19485 | 58678;58679;58680 | chr2:178593847;178593846;178593845 | chr2:179458574;179458573;179458572 |
| N2AB | 17844 | 53755;53756;53757 | chr2:178593847;178593846;178593845 | chr2:179458574;179458573;179458572 |
| N2A | 16917 | 50974;50975;50976 | chr2:178593847;178593846;178593845 | chr2:179458574;179458573;179458572 |
| N2B | 10420 | 31483;31484;31485 | chr2:178593847;178593846;178593845 | chr2:179458574;179458573;179458572 |
| Novex-1 | 10545 | 31858;31859;31860 | chr2:178593847;178593846;178593845 | chr2:179458574;179458573;179458572 |
| Novex-2 | 10612 | 32059;32060;32061 | chr2:178593847;178593846;178593845 | chr2:179458574;179458573;179458572 |
| 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 | None | None | 1.0 | N | 0.743 | 0.472 | 0.3571064206 | gnomAD-4.0.0 | 6.84572E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99658E-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 | 0.6881 | likely_pathogenic | 0.6774 | pathogenic | -0.359 | Destabilizing | 1.0 | D | 0.62 | neutral | N | 0.468013152 | None | None | N |
| G/C | 0.9089 | likely_pathogenic | 0.9168 | pathogenic | -0.917 | Destabilizing | 1.0 | D | 0.723 | prob.delet. | None | None | None | None | N |
| G/D | 0.9413 | likely_pathogenic | 0.9468 | pathogenic | -0.795 | Destabilizing | 1.0 | D | 0.755 | deleterious | None | None | None | None | N |
| G/E | 0.9448 | likely_pathogenic | 0.9461 | pathogenic | -0.925 | Destabilizing | 1.0 | D | 0.765 | deleterious | N | 0.49349724 | None | None | N |
| G/F | 0.9662 | likely_pathogenic | 0.9641 | pathogenic | -0.922 | Destabilizing | 1.0 | D | 0.703 | prob.neutral | None | None | None | None | N |
| G/H | 0.9869 | likely_pathogenic | 0.988 | pathogenic | -0.576 | Destabilizing | 1.0 | D | 0.702 | prob.neutral | None | None | None | None | N |
| G/I | 0.9481 | likely_pathogenic | 0.9519 | pathogenic | -0.39 | Destabilizing | 1.0 | D | 0.717 | prob.delet. | None | None | None | None | N |
| G/K | 0.9877 | likely_pathogenic | 0.988 | pathogenic | -1.049 | Destabilizing | 1.0 | D | 0.764 | deleterious | None | None | None | None | N |
| G/L | 0.9453 | likely_pathogenic | 0.9431 | pathogenic | -0.39 | Destabilizing | 1.0 | D | 0.747 | deleterious | None | None | None | None | N |
| G/M | 0.9758 | likely_pathogenic | 0.9769 | pathogenic | -0.581 | Destabilizing | 1.0 | D | 0.717 | prob.delet. | None | None | None | None | N |
| G/N | 0.9705 | likely_pathogenic | 0.9733 | pathogenic | -0.72 | Destabilizing | 1.0 | D | 0.691 | prob.neutral | None | None | None | None | N |
| G/P | 0.97 | likely_pathogenic | 0.9613 | pathogenic | -0.346 | Destabilizing | 1.0 | D | 0.747 | deleterious | None | None | None | None | N |
| G/Q | 0.9795 | likely_pathogenic | 0.9808 | pathogenic | -0.965 | Destabilizing | 1.0 | D | 0.741 | deleterious | None | None | None | None | N |
| G/R | 0.9799 | likely_pathogenic | 0.9815 | pathogenic | -0.582 | Destabilizing | 1.0 | D | 0.743 | deleterious | N | 0.471798587 | None | None | N |
| G/S | 0.7217 | likely_pathogenic | 0.7369 | pathogenic | -0.849 | Destabilizing | 1.0 | D | 0.681 | prob.neutral | None | None | None | None | N |
| G/T | 0.925 | likely_pathogenic | 0.9305 | pathogenic | -0.909 | Destabilizing | 1.0 | D | 0.76 | deleterious | None | None | None | None | N |
| G/V | 0.9313 | likely_pathogenic | 0.9346 | pathogenic | -0.346 | Destabilizing | 1.0 | D | 0.753 | deleterious | N | 0.507806514 | None | None | N |
| G/W | 0.9561 | likely_pathogenic | 0.9583 | pathogenic | -1.125 | Destabilizing | 1.0 | D | 0.714 | prob.delet. | None | None | None | None | N |
| G/Y | 0.961 | likely_pathogenic | 0.9577 | pathogenic | -0.774 | Destabilizing | 1.0 | D | 0.697 | prob.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.