Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 20795 | 62608;62609;62610 | chr2:178589342;178589341;178589340 | chr2:179454069;179454068;179454067 |
| N2AB | 19154 | 57685;57686;57687 | chr2:178589342;178589341;178589340 | chr2:179454069;179454068;179454067 |
| N2A | 18227 | 54904;54905;54906 | chr2:178589342;178589341;178589340 | chr2:179454069;179454068;179454067 |
| N2B | 11730 | 35413;35414;35415 | chr2:178589342;178589341;178589340 | chr2:179454069;179454068;179454067 |
| Novex-1 | 11855 | 35788;35789;35790 | chr2:178589342;178589341;178589340 | chr2:179454069;179454068;179454067 |
| Novex-2 | 11922 | 35989;35990;35991 | chr2:178589342;178589341;178589340 | chr2:179454069;179454068;179454067 |
| 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/S | rs761580423  |
-1.144 | 1.0 | D | 0.839 | 0.842 | 0.566047931302 | gnomAD-2.1.1 | 2.42E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 1.96592E-04 | None | 0 | 0 | 0 |
| G/S | rs761580423 |
-1.144 | 1.0 | D | 0.839 | 0.842 | 0.566047931302 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 2.07039E-04 | 0 |
| G/S | rs761580423 |
-1.144 | 1.0 | D | 0.839 | 0.842 | 0.566047931302 | gnomAD-4.0.0 | 1.2399E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.69566E-06 | 1.86764E-04 | 1.60174E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.9281 | likely_pathogenic | 0.9213 | pathogenic | -0.613 | Destabilizing | 1.0 | D | 0.771 | deleterious | D | 0.568804739 | None | None | I |
| G/C | 0.9924 | likely_pathogenic | 0.9922 | pathogenic | -0.549 | Destabilizing | 1.0 | D | 0.721 | prob.delet. | D | 0.653937727 | None | None | I |
| G/D | 0.9983 | likely_pathogenic | 0.9983 | pathogenic | -1.247 | Destabilizing | 1.0 | D | 0.874 | deleterious | D | 0.652726902 | None | None | I |
| G/E | 0.9988 | likely_pathogenic | 0.9987 | pathogenic | -1.295 | Destabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | None | I |
| G/F | 0.9992 | likely_pathogenic | 0.9991 | pathogenic | -0.944 | Destabilizing | 1.0 | D | 0.784 | deleterious | None | None | None | None | I |
| G/H | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -1.339 | Destabilizing | 1.0 | D | 0.707 | prob.neutral | None | None | None | None | I |
| G/I | 0.9988 | likely_pathogenic | 0.9987 | pathogenic | -0.267 | Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | I |
| G/K | 0.9997 | likely_pathogenic | 0.9997 | pathogenic | -1.295 | Destabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | None | I |
| G/L | 0.9987 | likely_pathogenic | 0.9985 | pathogenic | -0.267 | Destabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | None | I |
| G/M | 0.9994 | likely_pathogenic | 0.9994 | pathogenic | -0.193 | Destabilizing | 1.0 | D | 0.717 | prob.delet. | None | None | None | None | I |
| G/N | 0.9992 | likely_pathogenic | 0.9992 | pathogenic | -0.878 | Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | I |
| G/P | 0.9997 | likely_pathogenic | 0.9997 | pathogenic | -0.343 | Destabilizing | 1.0 | D | 0.83 | deleterious | None | None | None | None | I |
| G/Q | 0.9993 | likely_pathogenic | 0.9993 | pathogenic | -1.041 | Destabilizing | 1.0 | D | 0.818 | deleterious | None | None | None | None | I |
| G/R | 0.9989 | likely_pathogenic | 0.9987 | pathogenic | -0.966 | Destabilizing | 1.0 | D | 0.829 | deleterious | D | 0.653534119 | None | None | I |
| G/S | 0.9749 | likely_pathogenic | 0.9727 | pathogenic | -1.035 | Destabilizing | 1.0 | D | 0.839 | deleterious | D | 0.597441354 | None | None | I |
| G/T | 0.9969 | likely_pathogenic | 0.997 | pathogenic | -1.019 | Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | I |
| G/V | 0.9969 | likely_pathogenic | 0.9966 | pathogenic | -0.343 | Destabilizing | 1.0 | D | 0.821 | deleterious | D | 0.637514758 | None | None | I |
| G/W | 0.9987 | likely_pathogenic | 0.9985 | pathogenic | -1.378 | Destabilizing | 1.0 | D | 0.708 | prob.delet. | None | None | None | None | I |
| G/Y | 0.9991 | likely_pathogenic | 0.9991 | pathogenic | -0.946 | Destabilizing | 1.0 | D | 0.773 | 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.