Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 31601 | 95026;95027;95028 | chr2:178546627;178546626;178546625 | chr2:179411354;179411353;179411352 |
| N2AB | 29960 | 90103;90104;90105 | chr2:178546627;178546626;178546625 | chr2:179411354;179411353;179411352 |
| N2A | 29033 | 87322;87323;87324 | chr2:178546627;178546626;178546625 | chr2:179411354;179411353;179411352 |
| N2B | 22536 | 67831;67832;67833 | chr2:178546627;178546626;178546625 | chr2:179411354;179411353;179411352 |
| Novex-1 | 22661 | 68206;68207;68208 | chr2:178546627;178546626;178546625 | chr2:179411354;179411353;179411352 |
| Novex-2 | 22728 | 68407;68408;68409 | chr2:178546627;178546626;178546625 | chr2:179411354;179411353;179411352 |
| 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/D | rs1411032573  |
-0.053 | 0.803 | N | 0.648 | 0.357 | 0.276482976112 | gnomAD-2.1.1 | 3.18E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 6.48E-05 | 0 |
| G/D | rs1411032573 |
-0.053 | 0.803 | N | 0.648 | 0.357 | 0.276482976112 | gnomAD-4.0.0 | 1.59554E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43419E-05 | 0 |
| G/S | rs768216139 |
-0.485 | 0.999 | N | 0.832 | 0.326 | 0.286848849266 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| G/S | rs768216139 |
-0.485 | 0.999 | N | 0.832 | 0.326 | 0.286848849266 | gnomAD-4.0.0 | 1.59523E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43373E-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 | 0.4023 | ambiguous | 0.3704 | ambiguous | -0.51 | Destabilizing | 0.999 | D | 0.798 | deleterious | N | 0.499850182 | None | None | N |
| G/C | 0.6899 | likely_pathogenic | 0.6372 | pathogenic | -0.984 | Destabilizing | 1.0 | D | 0.845 | deleterious | N | 0.502191562 | None | None | N |
| G/D | 0.6933 | likely_pathogenic | 0.6684 | pathogenic | -0.692 | Destabilizing | 0.803 | D | 0.648 | neutral | N | 0.447767923 | None | None | N |
| G/E | 0.6215 | likely_pathogenic | 0.5861 | pathogenic | -0.809 | Destabilizing | 0.999 | D | 0.855 | deleterious | None | None | None | None | N |
| G/F | 0.889 | likely_pathogenic | 0.8548 | pathogenic | -1.002 | Destabilizing | 1.0 | D | 0.891 | deleterious | None | None | None | None | N |
| G/H | 0.8854 | likely_pathogenic | 0.8564 | pathogenic | -0.862 | Destabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | N |
| G/I | 0.7713 | likely_pathogenic | 0.7173 | pathogenic | -0.4 | Destabilizing | 1.0 | D | 0.884 | deleterious | None | None | None | None | N |
| G/K | 0.8373 | likely_pathogenic | 0.7992 | pathogenic | -1.06 | Destabilizing | 1.0 | D | 0.832 | deleterious | None | None | None | None | N |
| G/L | 0.7601 | likely_pathogenic | 0.7203 | pathogenic | -0.4 | Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | N |
| G/M | 0.8482 | likely_pathogenic | 0.8129 | pathogenic | -0.422 | Destabilizing | 1.0 | D | 0.824 | deleterious | None | None | None | None | N |
| G/N | 0.7857 | likely_pathogenic | 0.7478 | pathogenic | -0.749 | Destabilizing | 1.0 | D | 0.826 | deleterious | None | None | None | None | N |
| G/P | 0.8991 | likely_pathogenic | 0.8978 | pathogenic | -0.398 | Destabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | N |
| G/Q | 0.7411 | likely_pathogenic | 0.7039 | pathogenic | -0.986 | Destabilizing | 1.0 | D | 0.875 | deleterious | None | None | None | None | N |
| G/R | 0.77 | likely_pathogenic | 0.7269 | pathogenic | -0.652 | Destabilizing | 1.0 | D | 0.881 | deleterious | N | 0.461677412 | None | None | N |
| G/S | 0.3268 | likely_benign | 0.2889 | benign | -0.979 | Destabilizing | 0.999 | D | 0.832 | deleterious | N | 0.515723711 | None | None | N |
| G/T | 0.5982 | likely_pathogenic | 0.5518 | ambiguous | -1.014 | Destabilizing | 1.0 | D | 0.83 | deleterious | None | None | None | None | N |
| G/V | 0.655 | likely_pathogenic | 0.5983 | pathogenic | -0.398 | Destabilizing | 1.0 | D | 0.849 | deleterious | N | 0.504295996 | None | None | N |
| G/W | 0.8722 | likely_pathogenic | 0.8441 | pathogenic | -1.227 | Destabilizing | 1.0 | D | 0.802 | deleterious | None | None | None | None | N |
| G/Y | 0.8661 | likely_pathogenic | 0.8274 | pathogenic | -0.852 | Destabilizing | 1.0 | D | 0.878 | 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.