Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 21200 | 63823;63824;63825 | chr2:178587711;178587710;178587709 | chr2:179452438;179452437;179452436 |
| N2AB | 19559 | 58900;58901;58902 | chr2:178587711;178587710;178587709 | chr2:179452438;179452437;179452436 |
| N2A | 18632 | 56119;56120;56121 | chr2:178587711;178587710;178587709 | chr2:179452438;179452437;179452436 |
| N2B | 12135 | 36628;36629;36630 | chr2:178587711;178587710;178587709 | chr2:179452438;179452437;179452436 |
| Novex-1 | 12260 | 37003;37004;37005 | chr2:178587711;178587710;178587709 | chr2:179452438;179452437;179452436 |
| Novex-2 | 12327 | 37204;37205;37206 | chr2:178587711;178587710;178587709 | chr2:179452438;179452437;179452436 |
| 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/E | rs1313160165  |
-0.901 | 1.0 | D | 0.809 | 0.824 | 0.731956435446 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.92E-06 | 0 |
| G/E | rs1313160165 |
-0.901 | 1.0 | D | 0.809 | 0.824 | 0.731956435446 | gnomAD-4.0.0 | 6.37284E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.14449E-05 | 0 | 0 |
| G/R | None | None | 1.0 | D | 0.81 | 0.834 | 0.81583949607 | gnomAD-4.0.0 | 3.1865E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 1.88388E-05 | 0 | 2.8612E-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 | 0.7965 | likely_pathogenic | 0.775 | pathogenic | -0.299 | Destabilizing | 1.0 | D | 0.766 | deleterious | D | 0.592021205 | None | None | I |
| G/C | 0.9609 | likely_pathogenic | 0.9594 | pathogenic | -0.82 | Destabilizing | 1.0 | D | 0.719 | prob.delet. | None | None | None | None | I |
| G/D | 0.9948 | likely_pathogenic | 0.9941 | pathogenic | -0.932 | Destabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | I |
| G/E | 0.9967 | likely_pathogenic | 0.9963 | pathogenic | -1.089 | Destabilizing | 1.0 | D | 0.809 | deleterious | D | 0.658259569 | None | None | I |
| G/F | 0.9975 | likely_pathogenic | 0.9973 | pathogenic | -1.019 | Destabilizing | 1.0 | D | 0.772 | deleterious | None | None | None | None | I |
| G/H | 0.9987 | likely_pathogenic | 0.9987 | pathogenic | -0.636 | Destabilizing | 1.0 | D | 0.704 | prob.neutral | None | None | None | None | I |
| G/I | 0.9955 | likely_pathogenic | 0.9952 | pathogenic | -0.425 | Destabilizing | 1.0 | D | 0.784 | deleterious | None | None | None | None | I |
| G/K | 0.9988 | likely_pathogenic | 0.9987 | pathogenic | -1.047 | Destabilizing | 1.0 | D | 0.808 | deleterious | None | None | None | None | I |
| G/L | 0.9953 | likely_pathogenic | 0.9952 | pathogenic | -0.425 | Destabilizing | 1.0 | D | 0.794 | deleterious | None | None | None | None | I |
| G/M | 0.9977 | likely_pathogenic | 0.9976 | pathogenic | -0.526 | Destabilizing | 1.0 | D | 0.708 | prob.delet. | None | None | None | None | I |
| G/N | 0.9965 | likely_pathogenic | 0.9963 | pathogenic | -0.6 | Destabilizing | 1.0 | D | 0.823 | deleterious | None | None | None | None | I |
| G/P | 0.9988 | likely_pathogenic | 0.9988 | pathogenic | -0.35 | Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | I |
| G/Q | 0.9978 | likely_pathogenic | 0.9977 | pathogenic | -0.895 | Destabilizing | 1.0 | D | 0.806 | deleterious | None | None | None | None | I |
| G/R | 0.996 | likely_pathogenic | 0.9956 | pathogenic | -0.567 | Destabilizing | 1.0 | D | 0.81 | deleterious | D | 0.645872685 | None | None | I |
| G/S | 0.8905 | likely_pathogenic | 0.8819 | pathogenic | -0.666 | Destabilizing | 1.0 | D | 0.825 | deleterious | None | None | None | None | I |
| G/T | 0.9866 | likely_pathogenic | 0.9852 | pathogenic | -0.768 | Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | I |
| G/V | 0.987 | likely_pathogenic | 0.9861 | pathogenic | -0.35 | Destabilizing | 1.0 | D | 0.789 | deleterious | D | 0.636353935 | None | None | I |
| G/W | 0.9959 | likely_pathogenic | 0.9959 | pathogenic | -1.205 | Destabilizing | 1.0 | D | 0.713 | prob.delet. | None | None | None | None | I |
| G/Y | 0.9971 | likely_pathogenic | 0.9971 | pathogenic | -0.867 | Destabilizing | 1.0 | D | 0.758 | 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.