Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 34953 | 105082;105083;105084 | chr2:178531758;178531757;178531756 | chr2:179396485;179396484;179396483 |
| N2AB | 33312 | 100159;100160;100161 | chr2:178531758;178531757;178531756 | chr2:179396485;179396484;179396483 |
| N2A | 32385 | 97378;97379;97380 | chr2:178531758;178531757;178531756 | chr2:179396485;179396484;179396483 |
| N2B | 25888 | 77887;77888;77889 | chr2:178531758;178531757;178531756 | chr2:179396485;179396484;179396483 |
| Novex-1 | 26013 | 78262;78263;78264 | chr2:178531758;178531757;178531756 | chr2:179396485;179396484;179396483 |
| Novex-2 | 26080 | 78463;78464;78465 | chr2:178531758;178531757;178531756 | chr2:179396485;179396484;179396483 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/I | rs776593972  |
-0.802 | 0.543 | N | 0.237 | 0.217 | 0.453962894745 | gnomAD-2.1.1 | 4.01E-05 | None | None | None | None | N | None | 0 | 2.89687E-04 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| V/I | rs776593972 |
-0.802 | 0.543 | N | 0.237 | 0.217 | 0.453962894745 | gnomAD-4.0.0 | 8.20969E-06 | None | None | None | None | N | None | 0 | 2.45975E-04 | None | 0 | 0 | None | 0 | 0 | 8.994E-07 | 0 | 0 |
| V/L | rs776593972 |
-0.804 | 0.948 | N | 0.445 | 0.461 | 0.528761452848 | gnomAD-2.1.1 | 8.03E-06 | None | None | None | None | N | None | 0 | 5.79E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| V/L | rs776593972 |
-0.804 | 0.948 | N | 0.445 | 0.461 | 0.528761452848 | gnomAD-4.0.0 | 1.36828E-06 | None | None | None | None | N | None | 0 | 4.47227E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.7982 | likely_pathogenic | 0.8325 | pathogenic | -1.76 | Destabilizing | 0.994 | D | 0.472 | neutral | N | 0.501055695 | None | None | N |
| V/C | 0.9582 | likely_pathogenic | 0.9624 | pathogenic | -1.191 | Destabilizing | 1.0 | D | 0.673 | neutral | None | None | None | None | N |
| V/D | 0.9949 | likely_pathogenic | 0.9945 | pathogenic | -1.989 | Destabilizing | 1.0 | D | 0.759 | deleterious | None | None | None | None | N |
| V/E | 0.9748 | likely_pathogenic | 0.9762 | pathogenic | -1.983 | Destabilizing | 0.999 | D | 0.715 | prob.delet. | D | 0.523166557 | None | None | N |
| V/F | 0.8588 | likely_pathogenic | 0.8607 | pathogenic | -1.4 | Destabilizing | 0.999 | D | 0.72 | prob.delet. | None | None | None | None | N |
| V/G | 0.8972 | likely_pathogenic | 0.9067 | pathogenic | -2.087 | Highly Destabilizing | 0.999 | D | 0.75 | deleterious | D | 0.527521424 | None | None | N |
| V/H | 0.9907 | likely_pathogenic | 0.9917 | pathogenic | -1.624 | Destabilizing | 1.0 | D | 0.73 | prob.delet. | None | None | None | None | N |
| V/I | 0.1485 | likely_benign | 0.152 | benign | -0.945 | Destabilizing | 0.543 | D | 0.237 | neutral | N | 0.51895967 | None | None | N |
| V/K | 0.9723 | likely_pathogenic | 0.9779 | pathogenic | -1.445 | Destabilizing | 1.0 | D | 0.717 | prob.delet. | None | None | None | None | N |
| V/L | 0.7317 | likely_pathogenic | 0.7462 | pathogenic | -0.945 | Destabilizing | 0.948 | D | 0.445 | neutral | N | 0.497247488 | None | None | N |
| V/M | 0.7206 | likely_pathogenic | 0.7558 | pathogenic | -0.705 | Destabilizing | 0.999 | D | 0.726 | prob.delet. | None | None | None | None | N |
| V/N | 0.9787 | likely_pathogenic | 0.9779 | pathogenic | -1.273 | Destabilizing | 1.0 | D | 0.766 | deleterious | None | None | None | None | N |
| V/P | 0.9918 | likely_pathogenic | 0.992 | pathogenic | -1.185 | Destabilizing | 1.0 | D | 0.731 | prob.delet. | None | None | None | None | N |
| V/Q | 0.9592 | likely_pathogenic | 0.9658 | pathogenic | -1.478 | Destabilizing | 1.0 | D | 0.729 | prob.delet. | None | None | None | None | N |
| V/R | 0.9519 | likely_pathogenic | 0.9606 | pathogenic | -0.885 | Destabilizing | 1.0 | D | 0.766 | deleterious | None | None | None | None | N |
| V/S | 0.9212 | likely_pathogenic | 0.9293 | pathogenic | -1.759 | Destabilizing | 1.0 | D | 0.719 | prob.delet. | None | None | None | None | N |
| V/T | 0.8317 | likely_pathogenic | 0.865 | pathogenic | -1.653 | Destabilizing | 0.996 | D | 0.647 | neutral | None | None | None | None | N |
| V/W | 0.9971 | likely_pathogenic | 0.9973 | pathogenic | -1.612 | Destabilizing | 1.0 | D | 0.686 | prob.neutral | None | None | None | None | N |
| V/Y | 0.9838 | likely_pathogenic | 0.9843 | pathogenic | -1.338 | Destabilizing | 1.0 | D | 0.715 | prob.delet. | 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.