Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 26432 | 79519;79520;79521 | chr2:178566838;178566837;178566836 | chr2:179431565;179431564;179431563 |
| N2AB | 24791 | 74596;74597;74598 | chr2:178566838;178566837;178566836 | chr2:179431565;179431564;179431563 |
| N2A | 23864 | 71815;71816;71817 | chr2:178566838;178566837;178566836 | chr2:179431565;179431564;179431563 |
| N2B | 17367 | 52324;52325;52326 | chr2:178566838;178566837;178566836 | chr2:179431565;179431564;179431563 |
| Novex-1 | 17492 | 52699;52700;52701 | chr2:178566838;178566837;178566836 | chr2:179431565;179431564;179431563 |
| Novex-2 | 17559 | 52900;52901;52902 | chr2:178566838;178566837;178566836 | chr2:179431565;179431564;179431563 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/Q | rs770752765  |
-0.024 | 1.0 | N | 0.657 | 0.35 | 0.252681307341 | gnomAD-2.1.1 | 3.23E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 7.14E-05 | 0 |
| R/Q | rs770752765 |
-0.024 | 1.0 | N | 0.657 | 0.35 | 0.252681307341 | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | I | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 2.06954E-04 | 0 |
| R/Q | rs770752765 |
-0.024 | 1.0 | N | 0.657 | 0.35 | 0.252681307341 | gnomAD-4.0.0 | 1.54964E-05 | None | None | None | None | I | None | 1.33558E-05 | 0 | None | 0 | 0 | None | 0 | 1.6442E-04 | 1.86493E-05 | 1.09786E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/A | 0.9456 | likely_pathogenic | 0.9525 | pathogenic | 0.122 | Stabilizing | 0.999 | D | 0.582 | neutral | None | None | None | None | I |
| R/C | 0.6555 | likely_pathogenic | 0.678 | pathogenic | -0.283 | Destabilizing | 1.0 | D | 0.761 | deleterious | None | None | None | None | I |
| R/D | 0.9846 | likely_pathogenic | 0.9866 | pathogenic | -0.315 | Destabilizing | 1.0 | D | 0.678 | prob.neutral | None | None | None | None | I |
| R/E | 0.9528 | likely_pathogenic | 0.9547 | pathogenic | -0.255 | Destabilizing | 0.999 | D | 0.622 | neutral | None | None | None | None | I |
| R/F | 0.9591 | likely_pathogenic | 0.9548 | pathogenic | -0.177 | Destabilizing | 1.0 | D | 0.743 | deleterious | None | None | None | None | I |
| R/G | 0.8605 | likely_pathogenic | 0.8843 | pathogenic | -0.036 | Destabilizing | 1.0 | D | 0.574 | neutral | N | 0.513995702 | None | None | I |
| R/H | 0.4098 | ambiguous | 0.4073 | ambiguous | -0.591 | Destabilizing | 1.0 | D | 0.727 | prob.delet. | None | None | None | None | I |
| R/I | 0.9032 | likely_pathogenic | 0.9125 | pathogenic | 0.494 | Stabilizing | 1.0 | D | 0.743 | deleterious | None | None | None | None | I |
| R/K | 0.4164 | ambiguous | 0.3963 | ambiguous | -0.12 | Destabilizing | 0.998 | D | 0.586 | neutral | None | None | None | None | I |
| R/L | 0.8229 | likely_pathogenic | 0.8425 | pathogenic | 0.494 | Stabilizing | 1.0 | D | 0.574 | neutral | N | 0.467152049 | None | None | I |
| R/M | 0.925 | likely_pathogenic | 0.9262 | pathogenic | -0.093 | Destabilizing | 1.0 | D | 0.691 | prob.neutral | None | None | None | None | I |
| R/N | 0.9628 | likely_pathogenic | 0.9615 | pathogenic | -0.145 | Destabilizing | 1.0 | D | 0.668 | neutral | None | None | None | None | I |
| R/P | 0.9728 | likely_pathogenic | 0.9795 | pathogenic | 0.389 | Stabilizing | 1.0 | D | 0.683 | prob.neutral | N | 0.486750788 | None | None | I |
| R/Q | 0.4611 | ambiguous | 0.4889 | ambiguous | -0.125 | Destabilizing | 1.0 | D | 0.657 | neutral | N | 0.520076312 | None | None | I |
| R/S | 0.9502 | likely_pathogenic | 0.9553 | pathogenic | -0.277 | Destabilizing | 1.0 | D | 0.598 | neutral | None | None | None | None | I |
| R/T | 0.916 | likely_pathogenic | 0.9317 | pathogenic | -0.101 | Destabilizing | 1.0 | D | 0.609 | neutral | None | None | None | None | I |
| R/V | 0.9238 | likely_pathogenic | 0.9287 | pathogenic | 0.389 | Stabilizing | 1.0 | D | 0.719 | prob.delet. | None | None | None | None | I |
| R/W | 0.6791 | likely_pathogenic | 0.6873 | pathogenic | -0.384 | Destabilizing | 1.0 | D | 0.775 | deleterious | None | None | None | None | I |
| R/Y | 0.8759 | likely_pathogenic | 0.866 | pathogenic | 0.038 | Stabilizing | 1.0 | D | 0.705 | prob.neutral | 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.