Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 1761 | 5506;5507;5508 | chr2:178776583;178776582;178776581 | chr2:179641310;179641309;179641308 |
| N2AB | 1761 | 5506;5507;5508 | chr2:178776583;178776582;178776581 | chr2:179641310;179641309;179641308 |
| N2A | 1761 | 5506;5507;5508 | chr2:178776583;178776582;178776581 | chr2:179641310;179641309;179641308 |
| N2B | 1715 | 5368;5369;5370 | chr2:178776583;178776582;178776581 | chr2:179641310;179641309;179641308 |
| Novex-1 | 1715 | 5368;5369;5370 | chr2:178776583;178776582;178776581 | chr2:179641310;179641309;179641308 |
| Novex-2 | 1715 | 5368;5369;5370 | chr2:178776583;178776582;178776581 | chr2:179641310;179641309;179641308 |
| Novex-3 | 1761 | 5506;5507;5508 | chr2:178776583;178776582;178776581 | chr2:179641310;179641309;179641308 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/R | rs1187984311  |
-0.638 | 1.0 | N | 0.719 | 0.737 | 0.496099317193 | gnomAD-2.1.1 | 3.18E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 6.48E-05 | 0 |
| S/R | rs1187984311 |
-0.638 | 1.0 | N | 0.719 | 0.737 | 0.496099317193 | 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 |
| S/R | rs1187984311 |
-0.638 | 1.0 | N | 0.719 | 0.737 | 0.496099317193 | gnomAD-4.0.0 | 1.36849E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.7986E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.205 | likely_benign | 0.2187 | benign | -0.787 | Destabilizing | 0.998 | D | 0.507 | neutral | None | None | None | None | N |
| S/C | 0.4546 | ambiguous | 0.482 | ambiguous | -0.536 | Destabilizing | 1.0 | D | 0.791 | deleterious | N | 0.517131258 | None | None | N |
| S/D | 0.9603 | likely_pathogenic | 0.9746 | pathogenic | -1.796 | Destabilizing | 0.999 | D | 0.611 | neutral | None | None | None | None | N |
| S/E | 0.9451 | likely_pathogenic | 0.9591 | pathogenic | -1.561 | Destabilizing | 0.999 | D | 0.609 | neutral | None | None | None | None | N |
| S/F | 0.7308 | likely_pathogenic | 0.8211 | pathogenic | -0.39 | Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | N |
| S/G | 0.4406 | ambiguous | 0.4925 | ambiguous | -1.182 | Destabilizing | 0.999 | D | 0.577 | neutral | D | 0.564332576 | None | None | N |
| S/H | 0.8014 | likely_pathogenic | 0.8287 | pathogenic | -1.524 | Destabilizing | 1.0 | D | 0.787 | deleterious | None | None | None | None | N |
| S/I | 0.7064 | likely_pathogenic | 0.7987 | pathogenic | 0.243 | Stabilizing | 1.0 | D | 0.743 | deleterious | N | 0.512631919 | None | None | N |
| S/K | 0.9856 | likely_pathogenic | 0.9897 | pathogenic | -0.416 | Destabilizing | 0.999 | D | 0.609 | neutral | None | None | None | None | N |
| S/L | 0.4707 | ambiguous | 0.587 | pathogenic | 0.243 | Stabilizing | 1.0 | D | 0.69 | prob.neutral | None | None | None | None | N |
| S/M | 0.6449 | likely_pathogenic | 0.6961 | pathogenic | 0.015 | Stabilizing | 1.0 | D | 0.784 | deleterious | None | None | None | None | N |
| S/N | 0.7056 | likely_pathogenic | 0.7936 | pathogenic | -1.242 | Destabilizing | 0.999 | D | 0.618 | neutral | N | 0.512199224 | None | None | N |
| S/P | 0.9951 | likely_pathogenic | 0.9973 | pathogenic | -0.07 | Destabilizing | 1.0 | D | 0.724 | prob.delet. | None | None | None | None | N |
| S/Q | 0.8793 | likely_pathogenic | 0.8948 | pathogenic | -0.78 | Destabilizing | 1.0 | D | 0.739 | prob.delet. | None | None | None | None | N |
| S/R | 0.9616 | likely_pathogenic | 0.9738 | pathogenic | -0.991 | Destabilizing | 1.0 | D | 0.719 | prob.delet. | N | 0.513738438 | None | None | N |
| S/T | 0.28 | likely_benign | 0.3319 | benign | -0.815 | Destabilizing | 0.999 | D | 0.554 | neutral | N | 0.441381949 | None | None | N |
| S/V | 0.6441 | likely_pathogenic | 0.7231 | pathogenic | -0.07 | Destabilizing | 1.0 | D | 0.699 | prob.neutral | None | None | None | None | N |
| S/W | 0.871 | likely_pathogenic | 0.9034 | pathogenic | -0.906 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | N |
| S/Y | 0.6957 | likely_pathogenic | 0.7658 | pathogenic | -0.427 | Destabilizing | 1.0 | D | 0.813 | 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.