Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 29564 | 88915;88916;88917 | chr2:178554657;178554656;178554655 | chr2:179419384;179419383;179419382 |
| N2AB | 27923 | 83992;83993;83994 | chr2:178554657;178554656;178554655 | chr2:179419384;179419383;179419382 |
| N2A | 26996 | 81211;81212;81213 | chr2:178554657;178554656;178554655 | chr2:179419384;179419383;179419382 |
| N2B | 20499 | 61720;61721;61722 | chr2:178554657;178554656;178554655 | chr2:179419384;179419383;179419382 |
| Novex-1 | 20624 | 62095;62096;62097 | chr2:178554657;178554656;178554655 | chr2:179419384;179419383;179419382 |
| Novex-2 | 20691 | 62296;62297;62298 | chr2:178554657;178554656;178554655 | chr2:179419384;179419383;179419382 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/G | None | None | 1.0 | N | 0.655 | 0.273 | 0.252162846088 | gnomAD-4.0.0 | 1.59109E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 2.41196E-04 | 0 | 0 | 0 |
| A/P | None | None | 1.0 | N | 0.849 | 0.416 | 0.351180957027 | gnomAD-4.0.0 | 1.59108E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85783E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.4875 | ambiguous | 0.4459 | ambiguous | -0.877 | Destabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | N |
| A/D | 0.4348 | ambiguous | 0.3459 | ambiguous | -0.941 | Destabilizing | 1.0 | D | 0.85 | deleterious | None | None | None | None | N |
| A/E | 0.538 | ambiguous | 0.4963 | ambiguous | -0.996 | Destabilizing | 1.0 | D | 0.841 | deleterious | N | 0.521308463 | None | None | N |
| A/F | 0.6534 | likely_pathogenic | 0.6631 | pathogenic | -1.168 | Destabilizing | 1.0 | D | 0.854 | deleterious | None | None | None | None | N |
| A/G | 0.2059 | likely_benign | 0.2066 | benign | -1.175 | Destabilizing | 1.0 | D | 0.655 | neutral | N | 0.476397319 | None | None | N |
| A/H | 0.7124 | likely_pathogenic | 0.6999 | pathogenic | -1.295 | Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | N |
| A/I | 0.731 | likely_pathogenic | 0.741 | pathogenic | -0.486 | Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | N |
| A/K | 0.8842 | likely_pathogenic | 0.8817 | pathogenic | -1.08 | Destabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | None | N |
| A/L | 0.5001 | ambiguous | 0.5059 | ambiguous | -0.486 | Destabilizing | 1.0 | D | 0.798 | deleterious | None | None | None | None | N |
| A/M | 0.4949 | ambiguous | 0.5012 | ambiguous | -0.343 | Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | N |
| A/N | 0.4556 | ambiguous | 0.4198 | ambiguous | -0.75 | Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | N |
| A/P | 0.9826 | likely_pathogenic | 0.9818 | pathogenic | -0.599 | Destabilizing | 1.0 | D | 0.849 | deleterious | N | 0.475282805 | None | None | N |
| A/Q | 0.6094 | likely_pathogenic | 0.6096 | pathogenic | -0.942 | Destabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | None | N |
| A/R | 0.8181 | likely_pathogenic | 0.8216 | pathogenic | -0.715 | Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | N |
| A/S | 0.0814 | likely_benign | 0.0785 | benign | -1.126 | Destabilizing | 1.0 | D | 0.686 | prob.neutral | N | 0.390994707 | None | None | N |
| A/T | 0.188 | likely_benign | 0.1938 | benign | -1.085 | Destabilizing | 1.0 | D | 0.793 | deleterious | N | 0.464532461 | None | None | N |
| A/V | 0.3951 | ambiguous | 0.4152 | ambiguous | -0.599 | Destabilizing | 1.0 | D | 0.725 | prob.delet. | N | 0.521828538 | None | None | N |
| A/W | 0.9227 | likely_pathogenic | 0.9168 | pathogenic | -1.442 | Destabilizing | 1.0 | D | 0.826 | deleterious | None | None | None | None | N |
| A/Y | 0.7425 | likely_pathogenic | 0.7251 | pathogenic | -1.06 | Destabilizing | 1.0 | D | 0.854 | 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.