Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 16279 | 49060;49061;49062 | chr2:178614679;178614678;178614677 | chr2:179479406;179479405;179479404 |
| N2AB | 14638 | 44137;44138;44139 | chr2:178614679;178614678;178614677 | chr2:179479406;179479405;179479404 |
| N2A | 13711 | 41356;41357;41358 | chr2:178614679;178614678;178614677 | chr2:179479406;179479405;179479404 |
| N2B | 7214 | 21865;21866;21867 | chr2:178614679;178614678;178614677 | chr2:179479406;179479405;179479404 |
| Novex-1 | 7339 | 22240;22241;22242 | chr2:178614679;178614678;178614677 | chr2:179479406;179479405;179479404 |
| Novex-2 | 7406 | 22441;22442;22443 | chr2:178614679;178614678;178614677 | chr2:179479406;179479405;179479404 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | rs867039661  |
None | 1.0 | D | 0.735 | 0.4 | 0.542144099713 | gnomAD-4.0.0 | 6.84814E-07 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99973E-07 | 0 | 0 |
| P/L | None | None | 1.0 | D | 0.798 | 0.489 | 0.790236128783 | gnomAD-4.0.0 | 1.59456E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86338E-06 | 0 | 0 |
| P/T | None | None | 1.0 | N | 0.794 | 0.372 | 0.530803083455 | gnomAD-4.0.0 | 1.36963E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79995E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.3755 | ambiguous | 0.3813 | ambiguous | -0.759 | Destabilizing | 1.0 | D | 0.735 | prob.delet. | D | 0.541018619 | None | None | I |
| P/C | 0.9253 | likely_pathogenic | 0.9256 | pathogenic | -0.847 | Destabilizing | 1.0 | D | 0.777 | deleterious | None | None | None | None | I |
| P/D | 0.8595 | likely_pathogenic | 0.8515 | pathogenic | -0.218 | Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | I |
| P/E | 0.777 | likely_pathogenic | 0.7762 | pathogenic | -0.264 | Destabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | I |
| P/F | 0.9332 | likely_pathogenic | 0.933 | pathogenic | -0.63 | Destabilizing | 1.0 | D | 0.777 | deleterious | None | None | None | None | I |
| P/G | 0.7768 | likely_pathogenic | 0.7839 | pathogenic | -0.989 | Destabilizing | 1.0 | D | 0.773 | deleterious | None | None | None | None | I |
| P/H | 0.7613 | likely_pathogenic | 0.7619 | pathogenic | -0.422 | Destabilizing | 1.0 | D | 0.749 | deleterious | N | 0.511156116 | None | None | I |
| P/I | 0.8001 | likely_pathogenic | 0.8079 | pathogenic | -0.268 | Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | I |
| P/K | 0.8544 | likely_pathogenic | 0.8639 | pathogenic | -0.669 | Destabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | I |
| P/L | 0.4863 | ambiguous | 0.4828 | ambiguous | -0.268 | Destabilizing | 1.0 | D | 0.798 | deleterious | D | 0.575084027 | None | None | I |
| P/M | 0.7917 | likely_pathogenic | 0.8018 | pathogenic | -0.439 | Destabilizing | 1.0 | D | 0.749 | deleterious | None | None | None | None | I |
| P/N | 0.8029 | likely_pathogenic | 0.818 | pathogenic | -0.48 | Destabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | I |
| P/Q | 0.7212 | likely_pathogenic | 0.7267 | pathogenic | -0.619 | Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | I |
| P/R | 0.7906 | likely_pathogenic | 0.7916 | pathogenic | -0.216 | Destabilizing | 1.0 | D | 0.791 | deleterious | N | 0.50765252 | None | None | I |
| P/S | 0.5684 | likely_pathogenic | 0.5855 | pathogenic | -0.98 | Destabilizing | 1.0 | D | 0.799 | deleterious | N | 0.504054516 | None | None | I |
| P/T | 0.4539 | ambiguous | 0.4665 | ambiguous | -0.903 | Destabilizing | 1.0 | D | 0.794 | deleterious | N | 0.495963499 | None | None | I |
| P/V | 0.6405 | likely_pathogenic | 0.6524 | pathogenic | -0.395 | Destabilizing | 1.0 | D | 0.765 | deleterious | None | None | None | None | I |
| P/W | 0.974 | likely_pathogenic | 0.9703 | pathogenic | -0.735 | Destabilizing | 1.0 | D | 0.762 | deleterious | None | None | None | None | I |
| P/Y | 0.9258 | likely_pathogenic | 0.9257 | pathogenic | -0.442 | Destabilizing | 1.0 | D | 0.793 | 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.