Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 31725 | 95398;95399;95400 | chr2:178546063;178546062;178546061 | chr2:179410790;179410789;179410788 |
| N2AB | 30084 | 90475;90476;90477 | chr2:178546063;178546062;178546061 | chr2:179410790;179410789;179410788 |
| N2A | 29157 | 87694;87695;87696 | chr2:178546063;178546062;178546061 | chr2:179410790;179410789;179410788 |
| N2B | 22660 | 68203;68204;68205 | chr2:178546063;178546062;178546061 | chr2:179410790;179410789;179410788 |
| Novex-1 | 22785 | 68578;68579;68580 | chr2:178546063;178546062;178546061 | chr2:179410790;179410789;179410788 |
| Novex-2 | 22852 | 68779;68780;68781 | chr2:178546063;178546062;178546061 | chr2:179410790;179410789;179410788 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/G | None | None | 1.0 | N | 0.841 | 0.595 | 0.848252707701 | gnomAD-4.0.0 | 6.84342E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99603E-07 | 0 | 0 |
| C/R | rs1295856798  |
None | 1.0 | N | 0.886 | 0.608 | 0.840290290131 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| C/R | rs1295856798 |
None | 1.0 | N | 0.886 | 0.608 | 0.840290290131 | gnomAD-4.0.0 | 1.85936E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.54318E-06 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/A | 0.5551 | ambiguous | 0.566 | pathogenic | -1.432 | Destabilizing | 0.998 | D | 0.638 | neutral | None | None | None | None | N |
| C/D | 0.9986 | likely_pathogenic | 0.9991 | pathogenic | -0.912 | Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | N |
| C/E | 0.9991 | likely_pathogenic | 0.9993 | pathogenic | -0.693 | Destabilizing | 1.0 | D | 0.882 | deleterious | None | None | None | None | N |
| C/F | 0.8324 | likely_pathogenic | 0.8664 | pathogenic | -0.946 | Destabilizing | 1.0 | D | 0.876 | deleterious | N | 0.477036643 | None | None | N |
| C/G | 0.6022 | likely_pathogenic | 0.6873 | pathogenic | -1.795 | Destabilizing | 1.0 | D | 0.841 | deleterious | N | 0.51953903 | None | None | N |
| C/H | 0.9966 | likely_pathogenic | 0.9977 | pathogenic | -2.115 | Highly Destabilizing | 1.0 | D | 0.883 | deleterious | None | None | None | None | N |
| C/I | 0.689 | likely_pathogenic | 0.6685 | pathogenic | -0.468 | Destabilizing | 1.0 | D | 0.816 | deleterious | None | None | None | None | N |
| C/K | 0.9995 | likely_pathogenic | 0.9997 | pathogenic | -0.634 | Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | N |
| C/L | 0.6838 | likely_pathogenic | 0.7044 | pathogenic | -0.468 | Destabilizing | 0.999 | D | 0.742 | deleterious | None | None | None | None | N |
| C/M | 0.8191 | likely_pathogenic | 0.8229 | pathogenic | 0.083 | Stabilizing | 1.0 | D | 0.842 | deleterious | None | None | None | None | N |
| C/N | 0.9907 | likely_pathogenic | 0.9935 | pathogenic | -1.172 | Destabilizing | 1.0 | D | 0.883 | deleterious | None | None | None | None | N |
| C/P | 0.9993 | likely_pathogenic | 0.9995 | pathogenic | -0.764 | Destabilizing | 1.0 | D | 0.881 | deleterious | None | None | None | None | N |
| C/Q | 0.9967 | likely_pathogenic | 0.9975 | pathogenic | -0.751 | Destabilizing | 1.0 | D | 0.888 | deleterious | None | None | None | None | N |
| C/R | 0.9956 | likely_pathogenic | 0.997 | pathogenic | -1.096 | Destabilizing | 1.0 | D | 0.886 | deleterious | N | 0.520552988 | None | None | N |
| C/S | 0.8102 | likely_pathogenic | 0.8436 | pathogenic | -1.511 | Destabilizing | 1.0 | D | 0.807 | deleterious | N | 0.508525119 | None | None | N |
| C/T | 0.8469 | likely_pathogenic | 0.8612 | pathogenic | -1.084 | Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | N |
| C/V | 0.4945 | ambiguous | 0.4544 | ambiguous | -0.764 | Destabilizing | 0.999 | D | 0.765 | deleterious | None | None | None | None | N |
| C/W | 0.9925 | likely_pathogenic | 0.9952 | pathogenic | -1.256 | Destabilizing | 1.0 | D | 0.879 | deleterious | N | 0.509032099 | None | None | N |
| C/Y | 0.9635 | likely_pathogenic | 0.9757 | pathogenic | -1.027 | Destabilizing | 1.0 | D | 0.893 | deleterious | N | 0.520046009 | 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.