Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 989 | 3190;3191;3192 | chr2:178782941;178782940;178782939 | chr2:179647668;179647667;179647666 |
| N2AB | 989 | 3190;3191;3192 | chr2:178782941;178782940;178782939 | chr2:179647668;179647667;179647666 |
| N2A | 989 | 3190;3191;3192 | chr2:178782941;178782940;178782939 | chr2:179647668;179647667;179647666 |
| N2B | 943 | 3052;3053;3054 | chr2:178782941;178782940;178782939 | chr2:179647668;179647667;179647666 |
| Novex-1 | 943 | 3052;3053;3054 | chr2:178782941;178782940;178782939 | chr2:179647668;179647667;179647666 |
| Novex-2 | 943 | 3052;3053;3054 | chr2:178782941;178782940;178782939 | chr2:179647668;179647667;179647666 |
| Novex-3 | 989 | 3190;3191;3192 | chr2:178782941;178782940;178782939 | chr2:179647668;179647667;179647666 |
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 | rs376548316  |
-1.534 | 0.999 | N | 0.5 | 0.546 | 0.570056085782 | gnomAD-2.1.1 | 5.58E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.1488E-04 | 1.63452E-04 |
| F/L | rs376548316 |
-1.534 | 0.999 | N | 0.5 | 0.546 | 0.570056085782 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| F/L | rs376548316 |
-1.534 | 0.999 | N | 0.5 | 0.546 | 0.570056085782 | gnomAD-4.0.0 | 6.84075E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99303E-07 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/A | 0.998 | likely_pathogenic | 0.9982 | pathogenic | -2.677 | Highly Destabilizing | 1.0 | D | 0.694 | prob.neutral | None | None | None | None | N |
| F/C | 0.9903 | likely_pathogenic | 0.9918 | pathogenic | -2.006 | Highly Destabilizing | 1.0 | D | 0.791 | deleterious | N | 0.509584452 | None | None | N |
| F/D | 0.9992 | likely_pathogenic | 0.9992 | pathogenic | -1.643 | Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | N |
| F/E | 0.999 | likely_pathogenic | 0.999 | pathogenic | -1.496 | Destabilizing | 1.0 | D | 0.834 | deleterious | None | None | None | None | N |
| F/G | 0.9992 | likely_pathogenic | 0.9992 | pathogenic | -3.089 | Highly Destabilizing | 1.0 | D | 0.802 | deleterious | None | None | None | None | N |
| F/H | 0.9867 | likely_pathogenic | 0.9864 | pathogenic | -1.473 | Destabilizing | 1.0 | D | 0.786 | deleterious | None | None | None | None | N |
| F/I | 0.9771 | likely_pathogenic | 0.9787 | pathogenic | -1.388 | Destabilizing | 1.0 | D | 0.682 | prob.neutral | N | 0.439716802 | None | None | N |
| F/K | 0.9989 | likely_pathogenic | 0.9989 | pathogenic | -1.841 | Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | N |
| F/L | 0.9985 | likely_pathogenic | 0.9987 | pathogenic | -1.388 | Destabilizing | 0.999 | D | 0.5 | neutral | N | 0.469583911 | None | None | N |
| F/M | 0.9879 | likely_pathogenic | 0.9894 | pathogenic | -1.219 | Destabilizing | 1.0 | D | 0.741 | deleterious | None | None | None | None | N |
| F/N | 0.9969 | likely_pathogenic | 0.997 | pathogenic | -1.981 | Destabilizing | 1.0 | D | 0.848 | deleterious | None | None | None | None | N |
| F/P | 1.0 | likely_pathogenic | 1.0 | pathogenic | -1.818 | Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | N |
| F/Q | 0.9979 | likely_pathogenic | 0.9979 | pathogenic | -1.985 | Destabilizing | 1.0 | D | 0.838 | deleterious | None | None | None | None | N |
| F/R | 0.9962 | likely_pathogenic | 0.9964 | pathogenic | -1.241 | Destabilizing | 1.0 | D | 0.85 | deleterious | None | None | None | None | N |
| F/S | 0.997 | likely_pathogenic | 0.9971 | pathogenic | -2.885 | Highly Destabilizing | 1.0 | D | 0.771 | deleterious | N | 0.510494259 | None | None | N |
| F/T | 0.9962 | likely_pathogenic | 0.9964 | pathogenic | -2.626 | Highly Destabilizing | 1.0 | D | 0.781 | deleterious | None | None | None | None | N |
| F/V | 0.9768 | likely_pathogenic | 0.9784 | pathogenic | -1.818 | Destabilizing | 1.0 | D | 0.701 | prob.neutral | N | 0.482417704 | None | None | N |
| F/W | 0.9702 | likely_pathogenic | 0.9698 | pathogenic | -0.584 | Destabilizing | 1.0 | D | 0.729 | prob.delet. | None | None | None | None | N |
| F/Y | 0.6895 | likely_pathogenic | 0.6772 | pathogenic | -0.888 | Destabilizing | 0.999 | D | 0.516 | neutral | N | 0.464614946 | 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.