Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 16236 | 48931;48932;48933 | chr2:178614901;178614900;178614899 | chr2:179479628;179479627;179479626 |
| N2AB | 14595 | 44008;44009;44010 | chr2:178614901;178614900;178614899 | chr2:179479628;179479627;179479626 |
| N2A | 13668 | 41227;41228;41229 | chr2:178614901;178614900;178614899 | chr2:179479628;179479627;179479626 |
| N2B | 7171 | 21736;21737;21738 | chr2:178614901;178614900;178614899 | chr2:179479628;179479627;179479626 |
| Novex-1 | 7296 | 22111;22112;22113 | chr2:178614901;178614900;178614899 | chr2:179479628;179479627;179479626 |
| Novex-2 | 7363 | 22312;22313;22314 | chr2:178614901;178614900;178614899 | chr2:179479628;179479627;179479626 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | rs570205160  |
-0.398 | 1.0 | D | 0.759 | 0.612 | 0.44859776 | 1000 genomes | 1.99681E-04 | None | None | None | None | I | None | 0 | 0 | None | None | 1E-03 | 0 | None | None | None | 0 | None |
| G/A | rs570205160 |
-0.398 | 1.0 | D | 0.759 | 0.612 | 0.44859776 | gnomAD-2.1.1 | 4.82E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 6.71E-05 | None | 0 | None | 0 | 0 | 0 |
| G/A | rs570205160 |
-0.398 | 1.0 | D | 0.759 | 0.612 | 0.44859776 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 1.95008E-04 | None | 0 | 0 | 0 | 0 | 0 |
| G/A | rs570205160 |
-0.398 | 1.0 | D | 0.759 | 0.612 | 0.44859776 | gnomAD-4.0.0 | 6.57774E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 1.95465E-04 | None | 0 | 0 | 0 | 0 | 0 |
| G/C | rs1281660033 |
-0.786 | 1.0 | D | 0.873 | 0.633 | 0.74340886 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 6.48E-05 | 0 |
| G/C | rs1281660033 |
-0.786 | 1.0 | D | 0.873 | 0.633 | 0.74340886 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| G/C | rs1281660033 |
-0.786 | 1.0 | D | 0.873 | 0.633 | 0.74340886 | gnomAD-4.0.0 | 2.65832E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 4.96818E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.8274 | likely_pathogenic | 0.7712 | pathogenic | -0.598 | Destabilizing | 1.0 | D | 0.759 | deleterious | D | 0.834196 | None | None | I |
| G/C | 0.953 | likely_pathogenic | 0.9163 | pathogenic | -0.982 | Destabilizing | 1.0 | D | 0.873 | deleterious | D | 0.8374811 | None | None | I |
| G/D | 0.9599 | likely_pathogenic | 0.9284 | pathogenic | -0.904 | Destabilizing | 1.0 | D | 0.921 | deleterious | D | 0.72588664 | None | None | I |
| G/E | 0.9744 | likely_pathogenic | 0.9512 | pathogenic | -1.05 | Destabilizing | 1.0 | D | 0.909 | deleterious | None | None | None | None | I |
| G/F | 0.9898 | likely_pathogenic | 0.984 | pathogenic | -1.182 | Destabilizing | 1.0 | D | 0.893 | deleterious | None | None | None | None | I |
| G/H | 0.9882 | likely_pathogenic | 0.9775 | pathogenic | -0.884 | Destabilizing | 1.0 | D | 0.871 | deleterious | None | None | None | None | I |
| G/I | 0.9864 | likely_pathogenic | 0.9769 | pathogenic | -0.596 | Destabilizing | 1.0 | D | 0.898 | deleterious | None | None | None | None | I |
| G/K | 0.9833 | likely_pathogenic | 0.9657 | pathogenic | -1.14 | Destabilizing | 1.0 | D | 0.907 | deleterious | None | None | None | None | I |
| G/L | 0.9841 | likely_pathogenic | 0.9746 | pathogenic | -0.596 | Destabilizing | 1.0 | D | 0.879 | deleterious | None | None | None | None | I |
| G/M | 0.9882 | likely_pathogenic | 0.9811 | pathogenic | -0.497 | Destabilizing | 1.0 | D | 0.871 | deleterious | None | None | None | None | I |
| G/N | 0.967 | likely_pathogenic | 0.9402 | pathogenic | -0.772 | Destabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | I |
| G/P | 0.9982 | likely_pathogenic | 0.9971 | pathogenic | -0.561 | Destabilizing | 1.0 | D | 0.908 | deleterious | None | None | None | None | I |
| G/Q | 0.9786 | likely_pathogenic | 0.9619 | pathogenic | -1.078 | Destabilizing | 1.0 | D | 0.916 | deleterious | None | None | None | None | I |
| G/R | 0.9719 | likely_pathogenic | 0.9491 | pathogenic | -0.647 | Destabilizing | 1.0 | D | 0.919 | deleterious | D | 0.75820935 | None | None | I |
| G/S | 0.8361 | likely_pathogenic | 0.7488 | pathogenic | -0.948 | Destabilizing | 1.0 | D | 0.863 | deleterious | D | 0.7566058 | None | None | I |
| G/T | 0.9532 | likely_pathogenic | 0.9197 | pathogenic | -1.028 | Destabilizing | 1.0 | D | 0.908 | deleterious | None | None | None | None | I |
| G/V | 0.9662 | likely_pathogenic | 0.9467 | pathogenic | -0.561 | Destabilizing | 1.0 | D | 0.891 | deleterious | D | 0.7844216 | None | None | I |
| G/W | 0.9885 | likely_pathogenic | 0.9817 | pathogenic | -1.346 | Destabilizing | 1.0 | D | 0.881 | deleterious | None | None | None | None | I |
| G/Y | 0.982 | likely_pathogenic | 0.9692 | pathogenic | -1.014 | Destabilizing | 1.0 | D | 0.893 | deleterious | None | None | None | None | I |
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.