Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33169 | 99730;99731;99732 | chr2:178537702;178537701;178537700 | chr2:179402429;179402428;179402427 |
| N2AB | 31528 | 94807;94808;94809 | chr2:178537702;178537701;178537700 | chr2:179402429;179402428;179402427 |
| N2A | 30601 | 92026;92027;92028 | chr2:178537702;178537701;178537700 | chr2:179402429;179402428;179402427 |
| N2B | 24104 | 72535;72536;72537 | chr2:178537702;178537701;178537700 | chr2:179402429;179402428;179402427 |
| Novex-1 | 24229 | 72910;72911;72912 | chr2:178537702;178537701;178537700 | chr2:179402429;179402428;179402427 |
| Novex-2 | 24296 | 73111;73112;73113 | chr2:178537702;178537701;178537700 | chr2:179402429;179402428;179402427 |
| 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 | rs1692241113  |
None | 1.0 | D | 0.733 | 0.716 | 0.50231727954 | 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 |
| G/A | rs1692241113 |
None | 1.0 | D | 0.733 | 0.716 | 0.50231727954 | gnomAD-4.0.0 | 1.23941E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.69523E-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 | 0.7349 | likely_pathogenic | 0.8254 | pathogenic | -0.199 | Destabilizing | 1.0 | D | 0.733 | prob.delet. | D | 0.554735572 | None | None | N |
| G/C | 0.97 | likely_pathogenic | 0.9855 | pathogenic | -0.247 | Destabilizing | 1.0 | D | 0.762 | deleterious | D | 0.655534314 | None | None | N |
| G/D | 0.9416 | likely_pathogenic | 0.9646 | pathogenic | -0.761 | Destabilizing | 1.0 | D | 0.812 | deleterious | D | 0.601500671 | None | None | N |
| G/E | 0.9805 | likely_pathogenic | 0.9896 | pathogenic | -0.675 | Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | N |
| G/F | 0.9966 | likely_pathogenic | 0.998 | pathogenic | -0.325 | Destabilizing | 1.0 | D | 0.783 | deleterious | None | None | None | None | N |
| G/H | 0.9976 | likely_pathogenic | 0.9987 | pathogenic | -1.214 | Destabilizing | 1.0 | D | 0.723 | prob.delet. | None | None | None | None | N |
| G/I | 0.9938 | likely_pathogenic | 0.9965 | pathogenic | 0.612 | Stabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | N |
| G/K | 0.9973 | likely_pathogenic | 0.9983 | pathogenic | -0.639 | Destabilizing | 1.0 | D | 0.825 | deleterious | None | None | None | None | N |
| G/L | 0.9911 | likely_pathogenic | 0.9955 | pathogenic | 0.612 | Stabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | N |
| G/M | 0.9933 | likely_pathogenic | 0.9963 | pathogenic | 0.459 | Stabilizing | 1.0 | D | 0.756 | deleterious | None | None | None | None | N |
| G/N | 0.9831 | likely_pathogenic | 0.9908 | pathogenic | -0.585 | Destabilizing | 1.0 | D | 0.832 | deleterious | None | None | None | None | N |
| G/P | 0.9997 | likely_pathogenic | 0.9998 | pathogenic | 0.388 | Stabilizing | 1.0 | D | 0.814 | deleterious | None | None | None | None | N |
| G/Q | 0.9931 | likely_pathogenic | 0.9963 | pathogenic | -0.5 | Destabilizing | 1.0 | D | 0.806 | deleterious | None | None | None | None | N |
| G/R | 0.9934 | likely_pathogenic | 0.9959 | pathogenic | -0.739 | Destabilizing | 1.0 | D | 0.823 | deleterious | D | 0.65533251 | None | None | N |
| G/S | 0.8214 | likely_pathogenic | 0.9048 | pathogenic | -0.932 | Destabilizing | 1.0 | D | 0.821 | deleterious | D | 0.62939079 | None | None | N |
| G/T | 0.9722 | likely_pathogenic | 0.9849 | pathogenic | -0.732 | Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | N |
| G/V | 0.9824 | likely_pathogenic | 0.9908 | pathogenic | 0.388 | Stabilizing | 1.0 | D | 0.811 | deleterious | D | 0.655534314 | None | None | N |
| G/W | 0.9952 | likely_pathogenic | 0.9969 | pathogenic | -1.034 | Destabilizing | 1.0 | D | 0.765 | deleterious | None | None | None | None | N |
| G/Y | 0.9951 | likely_pathogenic | 0.9972 | pathogenic | -0.378 | Destabilizing | 1.0 | D | 0.771 | deleterious | 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.