Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 24573 | 73942;73943;73944 | chr2:178572415;178572414;178572413 | chr2:179437142;179437141;179437140 |
| N2AB | 22932 | 69019;69020;69021 | chr2:178572415;178572414;178572413 | chr2:179437142;179437141;179437140 |
| N2A | 22005 | 66238;66239;66240 | chr2:178572415;178572414;178572413 | chr2:179437142;179437141;179437140 |
| N2B | 15508 | 46747;46748;46749 | chr2:178572415;178572414;178572413 | chr2:179437142;179437141;179437140 |
| Novex-1 | 15633 | 47122;47123;47124 | chr2:178572415;178572414;178572413 | chr2:179437142;179437141;179437140 |
| Novex-2 | 15700 | 47323;47324;47325 | chr2:178572415;178572414;178572413 | chr2:179437142;179437141;179437140 |
| 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/Y | rs1240637296  |
-1.817 | 0.999 | N | 0.693 | 0.49 | 0.76527377799 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 9.96E-05 | 0 | None | 0 | None | 0 | 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 | 0.8149 | likely_pathogenic | 0.7504 | pathogenic | -1.748 | Destabilizing | 0.879 | D | 0.561 | neutral | None | None | None | None | N |
| C/D | 0.9918 | likely_pathogenic | 0.9864 | pathogenic | -1.543 | Destabilizing | 1.0 | D | 0.736 | prob.delet. | None | None | None | None | N |
| C/E | 0.9939 | likely_pathogenic | 0.9909 | pathogenic | -1.3 | Destabilizing | 1.0 | D | 0.737 | prob.delet. | None | None | None | None | N |
| C/F | 0.7542 | likely_pathogenic | 0.703 | pathogenic | -1.104 | Destabilizing | 0.999 | D | 0.68 | prob.neutral | N | 0.492560458 | None | None | N |
| C/G | 0.7221 | likely_pathogenic | 0.6022 | pathogenic | -2.118 | Highly Destabilizing | 0.993 | D | 0.731 | prob.delet. | N | 0.503047989 | None | None | N |
| C/H | 0.9624 | likely_pathogenic | 0.9446 | pathogenic | -2.335 | Highly Destabilizing | 1.0 | D | 0.727 | prob.delet. | None | None | None | None | N |
| C/I | 0.6368 | likely_pathogenic | 0.599 | pathogenic | -0.737 | Destabilizing | 0.984 | D | 0.605 | neutral | None | None | None | None | N |
| C/K | 0.9954 | likely_pathogenic | 0.9932 | pathogenic | -1.143 | Destabilizing | 1.0 | D | 0.735 | prob.delet. | None | None | None | None | N |
| C/L | 0.7175 | likely_pathogenic | 0.672 | pathogenic | -0.737 | Destabilizing | 0.985 | D | 0.593 | neutral | None | None | None | None | N |
| C/M | 0.869 | likely_pathogenic | 0.8347 | pathogenic | 0.31 | Stabilizing | 1.0 | D | 0.677 | prob.neutral | None | None | None | None | N |
| C/N | 0.9144 | likely_pathogenic | 0.8508 | pathogenic | -1.78 | Destabilizing | 1.0 | D | 0.743 | deleterious | None | None | None | None | N |
| C/P | 0.9767 | likely_pathogenic | 0.9747 | pathogenic | -1.052 | Destabilizing | 1.0 | D | 0.729 | prob.delet. | None | None | None | None | N |
| C/Q | 0.9765 | likely_pathogenic | 0.964 | pathogenic | -1.282 | Destabilizing | 1.0 | D | 0.739 | prob.delet. | None | None | None | None | N |
| C/R | 0.9708 | likely_pathogenic | 0.9575 | pathogenic | -1.6 | Destabilizing | 1.0 | D | 0.741 | deleterious | N | 0.489989564 | None | None | N |
| C/S | 0.7008 | likely_pathogenic | 0.5758 | pathogenic | -2.083 | Highly Destabilizing | 0.982 | D | 0.686 | prob.neutral | N | 0.466107957 | None | None | N |
| C/T | 0.8099 | likely_pathogenic | 0.7205 | pathogenic | -1.65 | Destabilizing | 0.971 | D | 0.67 | neutral | None | None | None | None | N |
| C/V | 0.558 | ambiguous | 0.526 | ambiguous | -1.052 | Destabilizing | 0.128 | N | 0.43 | neutral | None | None | None | None | N |
| C/W | 0.9493 | likely_pathogenic | 0.9301 | pathogenic | -1.495 | Destabilizing | 1.0 | D | 0.691 | prob.neutral | N | 0.518008547 | None | None | N |
| C/Y | 0.8971 | likely_pathogenic | 0.8682 | pathogenic | -1.318 | Destabilizing | 0.999 | D | 0.693 | prob.neutral | N | 0.479077786 | 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.