Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 26777 | 80554;80555;80556 | chr2:178565803;178565802;178565801 | chr2:179430530;179430529;179430528 |
| N2AB | 25136 | 75631;75632;75633 | chr2:178565803;178565802;178565801 | chr2:179430530;179430529;179430528 |
| N2A | 24209 | 72850;72851;72852 | chr2:178565803;178565802;178565801 | chr2:179430530;179430529;179430528 |
| N2B | 17712 | 53359;53360;53361 | chr2:178565803;178565802;178565801 | chr2:179430530;179430529;179430528 |
| Novex-1 | 17837 | 53734;53735;53736 | chr2:178565803;178565802;178565801 | chr2:179430530;179430529;179430528 |
| Novex-2 | 17904 | 53935;53936;53937 | chr2:178565803;178565802;178565801 | chr2:179430530;179430529;179430528 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/G | None | None | 0.974 | N | 0.565 | 0.346 | 0.342631996419 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 0 |
| A/T | None | None | 0.981 | N | 0.334 | 0.159 | 0.236890367714 | gnomAD-4.0.0 | 1.36854E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99562E-07 | 0 | 1.65711E-05 |
| A/V | rs1477186864  |
-0.555 | 0.999 | N | 0.554 | 0.369 | 0.349204839081 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 6.48E-05 | 0 |
| A/V | rs1477186864 |
-0.555 | 0.999 | N | 0.554 | 0.369 | 0.349204839081 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| A/V | rs1477186864 |
-0.555 | 0.999 | N | 0.554 | 0.369 | 0.349204839081 | gnomAD-4.0.0 | 6.57505E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.47046E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.6084 | likely_pathogenic | 0.6651 | pathogenic | -1.528 | Destabilizing | 1.0 | D | 0.757 | deleterious | None | None | None | None | N |
| A/D | 0.9902 | likely_pathogenic | 0.9914 | pathogenic | -2.663 | Highly Destabilizing | 1.0 | D | 0.809 | deleterious | N | 0.512155516 | None | None | N |
| A/E | 0.9786 | likely_pathogenic | 0.9801 | pathogenic | -2.527 | Highly Destabilizing | 1.0 | D | 0.749 | deleterious | None | None | None | None | N |
| A/F | 0.8645 | likely_pathogenic | 0.8914 | pathogenic | -0.871 | Destabilizing | 1.0 | D | 0.816 | deleterious | None | None | None | None | N |
| A/G | 0.5054 | ambiguous | 0.527 | ambiguous | -1.663 | Destabilizing | 0.974 | D | 0.565 | neutral | N | 0.46656571 | None | None | N |
| A/H | 0.9902 | likely_pathogenic | 0.9917 | pathogenic | -1.87 | Destabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | N |
| A/I | 0.2916 | likely_benign | 0.3013 | benign | -0.24 | Destabilizing | 1.0 | D | 0.751 | deleterious | None | None | None | None | N |
| A/K | 0.9942 | likely_pathogenic | 0.9946 | pathogenic | -1.366 | Destabilizing | 1.0 | D | 0.75 | deleterious | None | None | None | None | N |
| A/L | 0.3984 | ambiguous | 0.4527 | ambiguous | -0.24 | Destabilizing | 0.999 | D | 0.7 | prob.delet. | None | None | None | None | N |
| A/M | 0.4643 | ambiguous | 0.5375 | ambiguous | -0.561 | Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | N |
| A/N | 0.9411 | likely_pathogenic | 0.95 | pathogenic | -1.582 | Destabilizing | 1.0 | D | 0.81 | deleterious | None | None | None | None | N |
| A/P | 0.7465 | likely_pathogenic | 0.7364 | pathogenic | -0.543 | Destabilizing | 1.0 | D | 0.78 | deleterious | N | 0.491828131 | None | None | N |
| A/Q | 0.9692 | likely_pathogenic | 0.9748 | pathogenic | -1.519 | Destabilizing | 1.0 | D | 0.771 | deleterious | None | None | None | None | N |
| A/R | 0.9849 | likely_pathogenic | 0.9861 | pathogenic | -1.29 | Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | N |
| A/S | 0.3137 | likely_benign | 0.3346 | benign | -1.933 | Destabilizing | 0.995 | D | 0.556 | neutral | N | 0.472148344 | None | None | N |
| A/T | 0.2641 | likely_benign | 0.303 | benign | -1.695 | Destabilizing | 0.981 | D | 0.334 | neutral | N | 0.48315272 | None | None | N |
| A/V | 0.1285 | likely_benign | 0.1363 | benign | -0.543 | Destabilizing | 0.999 | D | 0.554 | neutral | N | 0.466548472 | None | None | N |
| A/W | 0.9919 | likely_pathogenic | 0.9936 | pathogenic | -1.512 | Destabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | N |
| A/Y | 0.9671 | likely_pathogenic | 0.9729 | pathogenic | -1.049 | Destabilizing | 1.0 | D | 0.813 | 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.