Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 7591 | 22996;22997;22998 | chr2:178721892;178721891;178721890 | chr2:179586619;179586618;179586617 |
| N2AB | 7274 | 22045;22046;22047 | chr2:178721892;178721891;178721890 | chr2:179586619;179586618;179586617 |
| N2A | 6347 | 19264;19265;19266 | chr2:178721892;178721891;178721890 | chr2:179586619;179586618;179586617 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/S | rs368750726  |
-0.656 | 0.999 | N | 0.587 | 0.568 | 0.29132392195 | gnomAD-2.1.1 | 8.06E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 6.56E-05 | None | 0 | 0 | 0 |
| N/S | rs368750726 |
-0.656 | 0.999 | N | 0.587 | 0.568 | 0.29132392195 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | I | None | 4.82E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| N/S | rs368750726 |
-0.656 | 0.999 | N | 0.587 | 0.568 | 0.29132392195 | gnomAD-4.0.0 | 1.2399E-05 | None | None | None | None | I | None | 8.01004E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 9.32682E-06 | 2.19945E-05 | 1.6019E-05 |
| N/T | rs368750726 |
-0.419 | 1.0 | N | 0.705 | 0.702 | None | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.91E-06 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/A | 0.977 | likely_pathogenic | 0.9688 | pathogenic | -0.358 | Destabilizing | 1.0 | D | 0.755 | deleterious | None | None | None | None | I |
| N/C | 0.9551 | likely_pathogenic | 0.9437 | pathogenic | 0.168 | Stabilizing | 1.0 | D | 0.709 | prob.delet. | None | None | None | None | I |
| N/D | 0.9063 | likely_pathogenic | 0.8628 | pathogenic | -1.44 | Destabilizing | 0.999 | D | 0.62 | neutral | D | 0.558183984 | None | None | I |
| N/E | 0.9964 | likely_pathogenic | 0.9949 | pathogenic | -1.374 | Destabilizing | 1.0 | D | 0.715 | prob.delet. | None | None | None | None | I |
| N/F | 0.9989 | likely_pathogenic | 0.9984 | pathogenic | -0.395 | Destabilizing | 1.0 | D | 0.751 | deleterious | None | None | None | None | I |
| N/G | 0.9383 | likely_pathogenic | 0.9093 | pathogenic | -0.652 | Destabilizing | 1.0 | D | 0.561 | neutral | None | None | None | None | I |
| N/H | 0.9463 | likely_pathogenic | 0.9325 | pathogenic | -0.668 | Destabilizing | 1.0 | D | 0.743 | deleterious | D | 0.559451432 | None | None | I |
| N/I | 0.9912 | likely_pathogenic | 0.9878 | pathogenic | 0.367 | Stabilizing | 1.0 | D | 0.735 | prob.delet. | D | 0.559704921 | None | None | I |
| N/K | 0.9965 | likely_pathogenic | 0.9947 | pathogenic | -0.181 | Destabilizing | 1.0 | D | 0.737 | prob.delet. | D | 0.558944453 | None | None | I |
| N/L | 0.9748 | likely_pathogenic | 0.9666 | pathogenic | 0.367 | Stabilizing | 1.0 | D | 0.74 | deleterious | None | None | None | None | I |
| N/M | 0.9884 | likely_pathogenic | 0.9834 | pathogenic | 0.937 | Stabilizing | 1.0 | D | 0.743 | deleterious | None | None | None | None | I |
| N/P | 0.9951 | likely_pathogenic | 0.9934 | pathogenic | 0.155 | Stabilizing | 1.0 | D | 0.736 | prob.delet. | None | None | None | None | I |
| N/Q | 0.9946 | likely_pathogenic | 0.9926 | pathogenic | -0.997 | Destabilizing | 1.0 | D | 0.737 | prob.delet. | None | None | None | None | I |
| N/R | 0.9926 | likely_pathogenic | 0.9901 | pathogenic | -0.112 | Destabilizing | 1.0 | D | 0.748 | deleterious | None | None | None | None | I |
| N/S | 0.3938 | ambiguous | 0.3468 | ambiguous | -0.674 | Destabilizing | 0.999 | D | 0.587 | neutral | N | 0.494134302 | None | None | I |
| N/T | 0.8516 | likely_pathogenic | 0.8191 | pathogenic | -0.457 | Destabilizing | 1.0 | D | 0.705 | prob.neutral | N | 0.518937281 | None | None | I |
| N/V | 0.9841 | likely_pathogenic | 0.9796 | pathogenic | 0.155 | Stabilizing | 1.0 | D | 0.739 | prob.delet. | None | None | None | None | I |
| N/W | 0.9992 | likely_pathogenic | 0.9987 | pathogenic | -0.323 | Destabilizing | 1.0 | D | 0.704 | prob.neutral | None | None | None | None | I |
| N/Y | 0.9874 | likely_pathogenic | 0.9818 | pathogenic | 0.008 | Stabilizing | 1.0 | D | 0.75 | deleterious | D | 0.547930542 | None | None | I |
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.