Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 24688 | 74287;74288;74289 | chr2:178572070;178572069;178572068 | chr2:179436797;179436796;179436795 |
| N2AB | 23047 | 69364;69365;69366 | chr2:178572070;178572069;178572068 | chr2:179436797;179436796;179436795 |
| N2A | 22120 | 66583;66584;66585 | chr2:178572070;178572069;178572068 | chr2:179436797;179436796;179436795 |
| N2B | 15623 | 47092;47093;47094 | chr2:178572070;178572069;178572068 | chr2:179436797;179436796;179436795 |
| Novex-1 | 15748 | 47467;47468;47469 | chr2:178572070;178572069;178572068 | chr2:179436797;179436796;179436795 |
| Novex-2 | 15815 | 47668;47669;47670 | chr2:178572070;178572069;178572068 | chr2:179436797;179436796;179436795 |
| 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/C | rs771595253  |
-1.476 | 1.0 | D | 0.804 | 0.584 | 0.643164361049 | gnomAD-2.1.1 | 1.79E-05 | None | None | None | None | N | None | 8.27E-05 | 0 | None | 1.93874E-04 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| R/C | rs771595253 |
-1.476 | 1.0 | D | 0.804 | 0.584 | 0.643164361049 | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | N | None | 4.83E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| R/C | rs771595253 |
-1.476 | 1.0 | D | 0.804 | 0.584 | 0.643164361049 | gnomAD-4.0.0 | 3.40965E-05 | None | None | None | None | N | None | 2.6718E-05 | 0 | None | 2.02812E-04 | 4.47588E-05 | None | 0 | 0 | 3.64544E-05 | 1.09835E-05 | 1.60174E-05 |
| R/H | rs376988498 |
-2.053 | 1.0 | N | 0.806 | 0.571 | None | gnomAD-2.1.1 | 2.82E-05 | None | None | None | None | N | None | 1.29299E-04 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 4.65E-05 | 2.68E-05 | 0 |
| R/H | rs376988498 |
-2.053 | 1.0 | N | 0.806 | 0.571 | None | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 1.9425E-04 | None | 0 | 0 | 0 | 0 | 0 |
| R/H | rs376988498 |
-2.053 | 1.0 | N | 0.806 | 0.571 | None | gnomAD-4.0.0 | 2.7897E-05 | None | None | None | None | N | None | 4.00759E-05 | 1.66789E-05 | None | 0 | 2.90893E-04 | None | 9.3791E-05 | 1.64636E-04 | 1.52598E-05 | 2.19669E-05 | 1.6019E-05 |
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 | 0.9615 | likely_pathogenic | 0.9602 | pathogenic | -1.716 | Destabilizing | 1.0 | D | 0.619 | neutral | None | None | None | None | N |
| R/C | 0.5391 | ambiguous | 0.5556 | ambiguous | -1.682 | Destabilizing | 1.0 | D | 0.804 | deleterious | D | 0.523624997 | None | None | N |
| R/D | 0.998 | likely_pathogenic | 0.9981 | pathogenic | -0.824 | Destabilizing | 1.0 | D | 0.784 | deleterious | None | None | None | None | N |
| R/E | 0.9601 | likely_pathogenic | 0.9612 | pathogenic | -0.628 | Destabilizing | 1.0 | D | 0.669 | neutral | None | None | None | None | N |
| R/F | 0.9767 | likely_pathogenic | 0.9778 | pathogenic | -0.992 | Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | N |
| R/G | 0.9646 | likely_pathogenic | 0.967 | pathogenic | -2.034 | Highly Destabilizing | 1.0 | D | 0.724 | prob.delet. | D | 0.55530083 | None | None | N |
| R/H | 0.4091 | ambiguous | 0.4315 | ambiguous | -2.011 | Highly Destabilizing | 1.0 | D | 0.806 | deleterious | N | 0.521320819 | None | None | N |
| R/I | 0.9225 | likely_pathogenic | 0.9234 | pathogenic | -0.804 | Destabilizing | 1.0 | D | 0.826 | deleterious | None | None | None | None | N |
| R/K | 0.4554 | ambiguous | 0.4847 | ambiguous | -1.245 | Destabilizing | 0.998 | D | 0.642 | neutral | None | None | None | None | N |
| R/L | 0.8867 | likely_pathogenic | 0.886 | pathogenic | -0.804 | Destabilizing | 1.0 | D | 0.724 | prob.delet. | N | 0.512104107 | None | None | N |
| R/M | 0.9254 | likely_pathogenic | 0.9262 | pathogenic | -1.352 | Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | N |
| R/N | 0.9892 | likely_pathogenic | 0.9896 | pathogenic | -1.105 | Destabilizing | 1.0 | D | 0.771 | deleterious | None | None | None | None | N |
| R/P | 0.9995 | likely_pathogenic | 0.9995 | pathogenic | -1.096 | Destabilizing | 1.0 | D | 0.797 | deleterious | D | 0.555807809 | None | None | N |
| R/Q | 0.3423 | ambiguous | 0.3551 | ambiguous | -0.972 | Destabilizing | 1.0 | D | 0.774 | deleterious | None | None | None | None | N |
| R/S | 0.9749 | likely_pathogenic | 0.9738 | pathogenic | -1.911 | Destabilizing | 1.0 | D | 0.726 | prob.delet. | N | 0.512505273 | None | None | N |
| R/T | 0.9519 | likely_pathogenic | 0.9505 | pathogenic | -1.523 | Destabilizing | 1.0 | D | 0.729 | prob.delet. | None | None | None | None | N |
| R/V | 0.9352 | likely_pathogenic | 0.9359 | pathogenic | -1.096 | Destabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | N |
| R/W | 0.7846 | likely_pathogenic | 0.7817 | pathogenic | -0.605 | Destabilizing | 1.0 | D | 0.785 | deleterious | None | None | None | None | N |
| R/Y | 0.9432 | likely_pathogenic | 0.9426 | pathogenic | -0.417 | Destabilizing | 1.0 | D | 0.828 | 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.