Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 16556 | 49891;49892;49893 | chr2:178613055;178613054;178613053 | chr2:179477782;179477781;179477780 |
| N2AB | 14915 | 44968;44969;44970 | chr2:178613055;178613054;178613053 | chr2:179477782;179477781;179477780 |
| N2A | 13988 | 42187;42188;42189 | chr2:178613055;178613054;178613053 | chr2:179477782;179477781;179477780 |
| N2B | 7491 | 22696;22697;22698 | chr2:178613055;178613054;178613053 | chr2:179477782;179477781;179477780 |
| Novex-1 | 7616 | 23071;23072;23073 | chr2:178613055;178613054;178613053 | chr2:179477782;179477781;179477780 |
| Novex-2 | 7683 | 23272;23273;23274 | chr2:178613055;178613054;178613053 | chr2:179477782;179477781;179477780 |
| 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/E | rs866384387  |
-1.784 | 1.0 | N | 0.819 | 0.435 | 0.40017627803 | 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/E | rs866384387 |
-1.784 | 1.0 | N | 0.819 | 0.435 | 0.40017627803 | gnomAD-4.0.0 | 4.10807E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 5.79952E-05 | 1.65881E-05 |
| G/R | rs1193616870 |
-1.054 | 1.0 | D | 0.802 | 0.482 | 0.534668972696 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.63E-05 | None | 0 | None | 0 | 0 | 0 |
| G/R | rs1193616870 |
-1.054 | 1.0 | D | 0.802 | 0.482 | 0.534668972696 | gnomAD-4.0.0 | 1.59383E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86257E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.3632 | ambiguous | 0.3268 | benign | -0.776 | Destabilizing | 1.0 | D | 0.647 | neutral | D | 0.537924109 | None | None | N |
| G/C | 0.6556 | likely_pathogenic | 0.616 | pathogenic | -1.083 | Destabilizing | 1.0 | D | 0.773 | deleterious | None | None | None | None | N |
| G/D | 0.7561 | likely_pathogenic | 0.7964 | pathogenic | -1.527 | Destabilizing | 1.0 | D | 0.783 | deleterious | None | None | None | None | N |
| G/E | 0.6784 | likely_pathogenic | 0.7164 | pathogenic | -1.514 | Destabilizing | 1.0 | D | 0.819 | deleterious | N | 0.490375497 | None | None | N |
| G/F | 0.9333 | likely_pathogenic | 0.9202 | pathogenic | -0.973 | Destabilizing | 1.0 | D | 0.792 | deleterious | None | None | None | None | N |
| G/H | 0.8867 | likely_pathogenic | 0.8807 | pathogenic | -1.645 | Destabilizing | 1.0 | D | 0.782 | deleterious | None | None | None | None | N |
| G/I | 0.8462 | likely_pathogenic | 0.8178 | pathogenic | -0.152 | Destabilizing | 1.0 | D | 0.79 | deleterious | None | None | None | None | N |
| G/K | 0.8579 | likely_pathogenic | 0.891 | pathogenic | -1.338 | Destabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | None | N |
| G/L | 0.8178 | likely_pathogenic | 0.7841 | pathogenic | -0.152 | Destabilizing | 1.0 | D | 0.812 | deleterious | None | None | None | None | N |
| G/M | 0.8799 | likely_pathogenic | 0.8496 | pathogenic | -0.228 | Destabilizing | 1.0 | D | 0.783 | deleterious | None | None | None | None | N |
| G/N | 0.77 | likely_pathogenic | 0.7366 | pathogenic | -1.15 | Destabilizing | 1.0 | D | 0.69 | prob.neutral | None | None | None | None | N |
| G/P | 0.9814 | likely_pathogenic | 0.9798 | pathogenic | -0.316 | Destabilizing | 1.0 | D | 0.798 | deleterious | None | None | None | None | N |
| G/Q | 0.7384 | likely_pathogenic | 0.7445 | pathogenic | -1.222 | Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | N |
| G/R | 0.7535 | likely_pathogenic | 0.8099 | pathogenic | -1.185 | Destabilizing | 1.0 | D | 0.802 | deleterious | D | 0.535709138 | None | None | N |
| G/S | 0.2593 | likely_benign | 0.2346 | benign | -1.442 | Destabilizing | 1.0 | D | 0.694 | prob.neutral | None | None | None | None | N |
| G/T | 0.5839 | likely_pathogenic | 0.5172 | ambiguous | -1.336 | Destabilizing | 1.0 | D | 0.816 | deleterious | None | None | None | None | N |
| G/V | 0.7227 | likely_pathogenic | 0.6894 | pathogenic | -0.316 | Destabilizing | 1.0 | D | 0.82 | deleterious | D | 0.559351195 | None | None | N |
| G/W | 0.9066 | likely_pathogenic | 0.912 | pathogenic | -1.487 | Destabilizing | 1.0 | D | 0.76 | deleterious | None | None | None | None | N |
| G/Y | 0.9096 | likely_pathogenic | 0.8969 | pathogenic | -1.001 | Destabilizing | 1.0 | D | 0.793 | 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.