Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 18041 | 54346;54347;54348 | chr2:178605056;178605055;178605054 | chr2:179469783;179469782;179469781 |
| N2AB | 16400 | 49423;49424;49425 | chr2:178605056;178605055;178605054 | chr2:179469783;179469782;179469781 |
| N2A | 15473 | 46642;46643;46644 | chr2:178605056;178605055;178605054 | chr2:179469783;179469782;179469781 |
| N2B | 8976 | 27151;27152;27153 | chr2:178605056;178605055;178605054 | chr2:179469783;179469782;179469781 |
| Novex-1 | 9101 | 27526;27527;27528 | chr2:178605056;178605055;178605054 | chr2:179469783;179469782;179469781 |
| Novex-2 | 9168 | 27727;27728;27729 | chr2:178605056;178605055;178605054 | chr2:179469783;179469782;179469781 |
| 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 | 0.974 | D | 0.622 | 0.58 | 0.404733080969 | gnomAD-4.0.0 | 1.36982E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.80033E-06 | 0 | 0 |
| G/R | None | None | 1.0 | D | 0.835 | 0.863 | 0.864363141975 | gnomAD-4.0.0 | 1.08029E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.18125E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.5104 | ambiguous | 0.4849 | ambiguous | -0.811 | Destabilizing | 0.974 | D | 0.622 | neutral | D | 0.547538467 | None | None | N |
| G/C | 0.9059 | likely_pathogenic | 0.9107 | pathogenic | -0.811 | Destabilizing | 1.0 | D | 0.773 | deleterious | D | 0.631621355 | None | None | N |
| G/D | 0.9092 | likely_pathogenic | 0.9254 | pathogenic | -1.677 | Destabilizing | 1.0 | D | 0.827 | deleterious | D | 0.589660274 | None | None | N |
| G/E | 0.9732 | likely_pathogenic | 0.9735 | pathogenic | -1.692 | Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | N |
| G/F | 0.9906 | likely_pathogenic | 0.9916 | pathogenic | -1.067 | Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | N |
| G/H | 0.9922 | likely_pathogenic | 0.994 | pathogenic | -1.647 | Destabilizing | 1.0 | D | 0.792 | deleterious | None | None | None | None | N |
| G/I | 0.9907 | likely_pathogenic | 0.9911 | pathogenic | -0.263 | Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | N |
| G/K | 0.9952 | likely_pathogenic | 0.9956 | pathogenic | -1.339 | Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | N |
| G/L | 0.9807 | likely_pathogenic | 0.9813 | pathogenic | -0.263 | Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | N |
| G/M | 0.9831 | likely_pathogenic | 0.984 | pathogenic | -0.08 | Destabilizing | 1.0 | D | 0.787 | deleterious | None | None | None | None | N |
| G/N | 0.9405 | likely_pathogenic | 0.9616 | pathogenic | -1.061 | Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | N |
| G/P | 0.9993 | likely_pathogenic | 0.9993 | pathogenic | -0.404 | Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | N |
| G/Q | 0.9806 | likely_pathogenic | 0.9835 | pathogenic | -1.19 | Destabilizing | 1.0 | D | 0.842 | deleterious | None | None | None | None | N |
| G/R | 0.9892 | likely_pathogenic | 0.9896 | pathogenic | -1.088 | Destabilizing | 1.0 | D | 0.835 | deleterious | D | 0.631419551 | None | None | N |
| G/S | 0.6364 | likely_pathogenic | 0.6667 | pathogenic | -1.296 | Destabilizing | 1.0 | D | 0.812 | deleterious | D | 0.598745056 | None | None | N |
| G/T | 0.9367 | likely_pathogenic | 0.9467 | pathogenic | -1.237 | Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | N |
| G/V | 0.9717 | likely_pathogenic | 0.972 | pathogenic | -0.404 | Destabilizing | 1.0 | D | 0.836 | deleterious | D | 0.615601994 | None | None | N |
| G/W | 0.9918 | likely_pathogenic | 0.9929 | pathogenic | -1.577 | Destabilizing | 1.0 | D | 0.781 | deleterious | None | None | None | None | N |
| G/Y | 0.9875 | likely_pathogenic | 0.9895 | pathogenic | -1.13 | Destabilizing | 1.0 | D | 0.836 | 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.