Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 32801 | 98626;98627;98628 | chr2:178539664;178539663;178539662 | chr2:179404391;179404390;179404389 |
| N2AB | 31160 | 93703;93704;93705 | chr2:178539664;178539663;178539662 | chr2:179404391;179404390;179404389 |
| N2A | 30233 | 90922;90923;90924 | chr2:178539664;178539663;178539662 | chr2:179404391;179404390;179404389 |
| N2B | 23736 | 71431;71432;71433 | chr2:178539664;178539663;178539662 | chr2:179404391;179404390;179404389 |
| Novex-1 | 23861 | 71806;71807;71808 | chr2:178539664;178539663;178539662 | chr2:179404391;179404390;179404389 |
| Novex-2 | 23928 | 72007;72008;72009 | chr2:178539664;178539663;178539662 | chr2:179404391;179404390;179404389 |
| 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/A | None | None | 0.45 | N | 0.494 | 0.216 | 0.156986980423 | gnomAD-4.0.0 | 6.84241E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.9945E-07 | 0 | 0 |
| G/E | None | None | 0.997 | N | 0.8 | 0.445 | 0.309839678437 | gnomAD-4.0.0 | 1.36848E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 2.31863E-05 | 0 |
| G/R | rs1351373936  |
-0.911 | 0.999 | N | 0.825 | 0.361 | 0.437314048365 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| G/R | rs1351373936 |
-0.911 | 0.999 | N | 0.825 | 0.361 | 0.437314048365 | gnomAD-4.0.0 | 3.18283E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 2.86541E-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 | 0.5312 | ambiguous | 0.4899 | ambiguous | -0.471 | Destabilizing | 0.45 | N | 0.494 | neutral | N | 0.516470286 | None | None | N |
| G/C | 0.8065 | likely_pathogenic | 0.7912 | pathogenic | -0.888 | Destabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | N |
| G/D | 0.8655 | likely_pathogenic | 0.861 | pathogenic | -0.93 | Destabilizing | 0.999 | D | 0.815 | deleterious | None | None | None | None | N |
| G/E | 0.8175 | likely_pathogenic | 0.8198 | pathogenic | -1.069 | Destabilizing | 0.997 | D | 0.8 | deleterious | N | 0.47917842 | None | None | N |
| G/F | 0.9388 | likely_pathogenic | 0.9322 | pathogenic | -1.021 | Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | N |
| G/H | 0.9724 | likely_pathogenic | 0.9684 | pathogenic | -0.773 | Destabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | N |
| G/I | 0.8611 | likely_pathogenic | 0.8518 | pathogenic | -0.467 | Destabilizing | 0.999 | D | 0.831 | deleterious | None | None | None | None | N |
| G/K | 0.9493 | likely_pathogenic | 0.9503 | pathogenic | -1.176 | Destabilizing | 0.998 | D | 0.799 | deleterious | None | None | None | None | N |
| G/L | 0.9094 | likely_pathogenic | 0.9039 | pathogenic | -0.467 | Destabilizing | 0.996 | D | 0.813 | deleterious | None | None | None | None | N |
| G/M | 0.9368 | likely_pathogenic | 0.9319 | pathogenic | -0.504 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | N |
| G/N | 0.9143 | likely_pathogenic | 0.908 | pathogenic | -0.754 | Destabilizing | 0.999 | D | 0.796 | deleterious | None | None | None | None | N |
| G/P | 0.9766 | likely_pathogenic | 0.9713 | pathogenic | -0.433 | Destabilizing | 0.999 | D | 0.821 | deleterious | None | None | None | None | N |
| G/Q | 0.9387 | likely_pathogenic | 0.9354 | pathogenic | -1.038 | Destabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | N |
| G/R | 0.945 | likely_pathogenic | 0.9443 | pathogenic | -0.67 | Destabilizing | 0.999 | D | 0.825 | deleterious | N | 0.468013152 | None | None | N |
| G/S | 0.5598 | ambiguous | 0.5232 | ambiguous | -0.889 | Destabilizing | 0.996 | D | 0.763 | deleterious | None | None | None | None | N |
| G/T | 0.7953 | likely_pathogenic | 0.7769 | pathogenic | -0.964 | Destabilizing | 0.998 | D | 0.788 | deleterious | None | None | None | None | N |
| G/V | 0.7998 | likely_pathogenic | 0.7848 | pathogenic | -0.433 | Destabilizing | 0.995 | D | 0.807 | deleterious | N | 0.497108545 | None | None | N |
| G/W | 0.9307 | likely_pathogenic | 0.9213 | pathogenic | -1.216 | Destabilizing | 1.0 | D | 0.777 | deleterious | N | 0.52023923 | None | None | N |
| G/Y | 0.9182 | likely_pathogenic | 0.9048 | pathogenic | -0.879 | Destabilizing | 1.0 | D | 0.823 | 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.