Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 29762 | 89509;89510;89511 | chr2:178553721;178553720;178553719 | chr2:179418448;179418447;179418446 |
| N2AB | 28121 | 84586;84587;84588 | chr2:178553721;178553720;178553719 | chr2:179418448;179418447;179418446 |
| N2A | 27194 | 81805;81806;81807 | chr2:178553721;178553720;178553719 | chr2:179418448;179418447;179418446 |
| N2B | 20697 | 62314;62315;62316 | chr2:178553721;178553720;178553719 | chr2:179418448;179418447;179418446 |
| Novex-1 | 20822 | 62689;62690;62691 | chr2:178553721;178553720;178553719 | chr2:179418448;179418447;179418446 |
| Novex-2 | 20889 | 62890;62891;62892 | chr2:178553721;178553720;178553719 | chr2:179418448;179418447;179418446 |
| 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/W | rs369701999  |
-1.408 | 1.0 | D | 0.812 | 0.692 | 0.697888366788 | gnomAD-2.1.1 | 8.06E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 6.55E-05 | None | 0 | 0 | 0 |
| G/W | rs369701999 |
-1.408 | 1.0 | D | 0.812 | 0.692 | 0.697888366788 | gnomAD-4.0.0 | 2.05285E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 3.47923E-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 | 0.9514 | likely_pathogenic | 0.9526 | pathogenic | -0.517 | Destabilizing | 1.0 | D | 0.725 | prob.delet. | N | 0.503982897 | None | None | I |
| G/C | 0.9833 | likely_pathogenic | 0.9851 | pathogenic | -0.853 | Destabilizing | 1.0 | D | 0.79 | deleterious | None | None | None | None | I |
| G/D | 0.996 | likely_pathogenic | 0.9965 | pathogenic | -0.681 | Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | I |
| G/E | 0.9972 | likely_pathogenic | 0.9976 | pathogenic | -0.823 | Destabilizing | 1.0 | D | 0.852 | deleterious | N | 0.503222428 | None | None | I |
| G/F | 0.9983 | likely_pathogenic | 0.9986 | pathogenic | -1.152 | Destabilizing | 1.0 | D | 0.787 | deleterious | None | None | None | None | I |
| G/H | 0.997 | likely_pathogenic | 0.9977 | pathogenic | -0.849 | Destabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | I |
| G/I | 0.9985 | likely_pathogenic | 0.9987 | pathogenic | -0.499 | Destabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | I |
| G/K | 0.9963 | likely_pathogenic | 0.9974 | pathogenic | -0.942 | Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | I |
| G/L | 0.998 | likely_pathogenic | 0.9981 | pathogenic | -0.499 | Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | I |
| G/M | 0.9986 | likely_pathogenic | 0.9988 | pathogenic | -0.394 | Destabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | I |
| G/N | 0.9937 | likely_pathogenic | 0.995 | pathogenic | -0.534 | Destabilizing | 1.0 | D | 0.804 | deleterious | None | None | None | None | I |
| G/P | 0.9997 | likely_pathogenic | 0.9997 | pathogenic | -0.468 | Destabilizing | 1.0 | D | 0.83 | deleterious | None | None | None | None | I |
| G/Q | 0.996 | likely_pathogenic | 0.9969 | pathogenic | -0.822 | Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | I |
| G/R | 0.9874 | likely_pathogenic | 0.9896 | pathogenic | -0.496 | Destabilizing | 1.0 | D | 0.835 | deleterious | N | 0.492373102 | None | None | I |
| G/S | 0.9247 | likely_pathogenic | 0.9336 | pathogenic | -0.74 | Destabilizing | 1.0 | D | 0.802 | deleterious | None | None | None | None | I |
| G/T | 0.9927 | likely_pathogenic | 0.9943 | pathogenic | -0.809 | Destabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | I |
| G/V | 0.9967 | likely_pathogenic | 0.9971 | pathogenic | -0.468 | Destabilizing | 1.0 | D | 0.808 | deleterious | N | 0.504743365 | None | None | I |
| G/W | 0.9958 | likely_pathogenic | 0.9963 | pathogenic | -1.329 | Destabilizing | 1.0 | D | 0.812 | deleterious | D | 0.537344251 | None | None | I |
| G/Y | 0.997 | likely_pathogenic | 0.9976 | pathogenic | -0.974 | Destabilizing | 1.0 | D | 0.785 | deleterious | None | None | None | None | I |
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.