Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 29408 | 88447;88448;88449 | chr2:178556932;178556931;178556930 | chr2:179421659;179421658;179421657 |
| N2AB | 27767 | 83524;83525;83526 | chr2:178556932;178556931;178556930 | chr2:179421659;179421658;179421657 |
| N2A | 26840 | 80743;80744;80745 | chr2:178556932;178556931;178556930 | chr2:179421659;179421658;179421657 |
| N2B | 20343 | 61252;61253;61254 | chr2:178556932;178556931;178556930 | chr2:179421659;179421658;179421657 |
| Novex-1 | 20468 | 61627;61628;61629 | chr2:178556932;178556931;178556930 | chr2:179421659;179421658;179421657 |
| Novex-2 | 20535 | 61828;61829;61830 | chr2:178556932;178556931;178556930 | chr2:179421659;179421658;179421657 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/I | None | None | 1.0 | N | 0.773 | 0.534 | 0.478068462777 | gnomAD-4.0.0 | 1.59127E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43275E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/A | 0.9914 | likely_pathogenic | 0.9882 | pathogenic | -2.435 | Highly Destabilizing | 1.0 | D | 0.81 | deleterious | None | None | None | None | N |
| F/C | 0.9355 | likely_pathogenic | 0.9146 | pathogenic | -1.604 | Destabilizing | 1.0 | D | 0.865 | deleterious | D | 0.570014951 | None | None | N |
| F/D | 0.9993 | likely_pathogenic | 0.9993 | pathogenic | -3.581 | Highly Destabilizing | 1.0 | D | 0.832 | deleterious | None | None | None | None | N |
| F/E | 0.9993 | likely_pathogenic | 0.9993 | pathogenic | -3.353 | Highly Destabilizing | 1.0 | D | 0.834 | deleterious | None | None | None | None | N |
| F/G | 0.9938 | likely_pathogenic | 0.9925 | pathogenic | -2.858 | Highly Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | N |
| F/H | 0.9938 | likely_pathogenic | 0.9935 | pathogenic | -2.125 | Highly Destabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | N |
| F/I | 0.7873 | likely_pathogenic | 0.7398 | pathogenic | -1.036 | Destabilizing | 1.0 | D | 0.773 | deleterious | N | 0.506833734 | None | None | N |
| F/K | 0.9993 | likely_pathogenic | 0.9993 | pathogenic | -2.47 | Highly Destabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | N |
| F/L | 0.9827 | likely_pathogenic | 0.9761 | pathogenic | -1.036 | Destabilizing | 0.999 | D | 0.674 | neutral | N | 0.514849131 | None | None | N |
| F/M | 0.9258 | likely_pathogenic | 0.9075 | pathogenic | -0.788 | Destabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | N |
| F/N | 0.9967 | likely_pathogenic | 0.9964 | pathogenic | -3.224 | Highly Destabilizing | 1.0 | D | 0.877 | deleterious | None | None | None | None | N |
| F/P | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -1.517 | Destabilizing | 1.0 | D | 0.885 | deleterious | None | None | None | None | N |
| F/Q | 0.9987 | likely_pathogenic | 0.9987 | pathogenic | -2.971 | Highly Destabilizing | 1.0 | D | 0.882 | deleterious | None | None | None | None | N |
| F/R | 0.9982 | likely_pathogenic | 0.9982 | pathogenic | -2.398 | Highly Destabilizing | 1.0 | D | 0.879 | deleterious | None | None | None | None | N |
| F/S | 0.9944 | likely_pathogenic | 0.9929 | pathogenic | -3.546 | Highly Destabilizing | 1.0 | D | 0.853 | deleterious | D | 0.558494061 | None | None | N |
| F/T | 0.9938 | likely_pathogenic | 0.9925 | pathogenic | -3.196 | Highly Destabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | N |
| F/V | 0.829 | likely_pathogenic | 0.7967 | pathogenic | -1.517 | Destabilizing | 1.0 | D | 0.793 | deleterious | N | 0.50895642 | None | None | N |
| F/W | 0.9249 | likely_pathogenic | 0.9151 | pathogenic | -0.646 | Destabilizing | 1.0 | D | 0.802 | deleterious | None | None | None | None | N |
| F/Y | 0.4823 | ambiguous | 0.4859 | ambiguous | -1.003 | Destabilizing | 0.999 | D | 0.588 | neutral | N | 0.516409748 | 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.