Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 19489 | 58690;58691;58692 | chr2:178593835;178593834;178593833 | chr2:179458562;179458561;179458560 |
| N2AB | 17848 | 53767;53768;53769 | chr2:178593835;178593834;178593833 | chr2:179458562;179458561;179458560 |
| N2A | 16921 | 50986;50987;50988 | chr2:178593835;178593834;178593833 | chr2:179458562;179458561;179458560 |
| N2B | 10424 | 31495;31496;31497 | chr2:178593835;178593834;178593833 | chr2:179458562;179458561;179458560 |
| Novex-1 | 10549 | 31870;31871;31872 | chr2:178593835;178593834;178593833 | chr2:179458562;179458561;179458560 |
| Novex-2 | 10616 | 32071;32072;32073 | chr2:178593835;178593834;178593833 | chr2:179458562;179458561;179458560 |
| 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/L | rs1484820483  |
-1.323 | 0.999 | N | 0.571 | 0.448 | 0.398283496042 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
| F/L | rs1484820483 |
-1.323 | 0.999 | N | 0.571 | 0.448 | 0.398283496042 | gnomAD-4.0.0 | 3.71989E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 4.23876E-06 | 0 | 1.6022E-05 |
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 | 0.9151 | likely_pathogenic | 0.8907 | pathogenic | -2.58 | Highly Destabilizing | 1.0 | D | 0.763 | deleterious | None | None | None | None | N |
| F/C | 0.6667 | likely_pathogenic | 0.6396 | pathogenic | -1.683 | Destabilizing | 1.0 | D | 0.873 | deleterious | N | 0.481619498 | None | None | N |
| F/D | 0.9902 | likely_pathogenic | 0.9874 | pathogenic | -1.442 | Destabilizing | 1.0 | D | 0.899 | deleterious | None | None | None | None | N |
| F/E | 0.9884 | likely_pathogenic | 0.9846 | pathogenic | -1.328 | Destabilizing | 1.0 | D | 0.901 | deleterious | None | None | None | None | N |
| F/G | 0.9776 | likely_pathogenic | 0.9723 | pathogenic | -2.965 | Highly Destabilizing | 1.0 | D | 0.885 | deleterious | None | None | None | None | N |
| F/H | 0.9272 | likely_pathogenic | 0.9165 | pathogenic | -1.269 | Destabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | N |
| F/I | 0.4503 | ambiguous | 0.4217 | ambiguous | -1.391 | Destabilizing | 1.0 | D | 0.684 | prob.neutral | N | 0.407369669 | None | None | N |
| F/K | 0.9817 | likely_pathogenic | 0.9771 | pathogenic | -1.687 | Destabilizing | 1.0 | D | 0.899 | deleterious | None | None | None | None | N |
| F/L | 0.9491 | likely_pathogenic | 0.9416 | pathogenic | -1.391 | Destabilizing | 0.999 | D | 0.571 | neutral | N | 0.435825707 | None | None | N |
| F/M | 0.7544 | likely_pathogenic | 0.7401 | pathogenic | -1.104 | Destabilizing | 1.0 | D | 0.768 | deleterious | None | None | None | None | N |
| F/N | 0.9674 | likely_pathogenic | 0.9606 | pathogenic | -1.757 | Destabilizing | 1.0 | D | 0.92 | deleterious | None | None | None | None | N |
| F/P | 0.9923 | likely_pathogenic | 0.9894 | pathogenic | -1.786 | Destabilizing | 1.0 | D | 0.911 | deleterious | None | None | None | None | N |
| F/Q | 0.9744 | likely_pathogenic | 0.9701 | pathogenic | -1.803 | Destabilizing | 1.0 | D | 0.908 | deleterious | None | None | None | None | N |
| F/R | 0.9606 | likely_pathogenic | 0.9528 | pathogenic | -1.018 | Destabilizing | 1.0 | D | 0.92 | deleterious | None | None | None | None | N |
| F/S | 0.9056 | likely_pathogenic | 0.882 | pathogenic | -2.62 | Highly Destabilizing | 1.0 | D | 0.864 | deleterious | N | 0.52167661 | None | None | N |
| F/T | 0.8976 | likely_pathogenic | 0.8729 | pathogenic | -2.396 | Highly Destabilizing | 1.0 | D | 0.871 | deleterious | None | None | None | None | N |
| F/V | 0.4675 | ambiguous | 0.4309 | ambiguous | -1.786 | Destabilizing | 1.0 | D | 0.737 | prob.delet. | N | 0.37812141 | None | None | N |
| F/W | 0.6767 | likely_pathogenic | 0.6677 | pathogenic | -0.625 | Destabilizing | 1.0 | D | 0.733 | prob.delet. | None | None | None | None | N |
| F/Y | 0.401 | ambiguous | 0.4011 | ambiguous | -0.909 | Destabilizing | 0.999 | D | 0.549 | neutral | N | 0.483139651 | 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.