Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 21430 | 64513;64514;64515 | chr2:178586613;178586612;178586611 | chr2:179451340;179451339;179451338 |
| N2AB | 19789 | 59590;59591;59592 | chr2:178586613;178586612;178586611 | chr2:179451340;179451339;179451338 |
| N2A | 18862 | 56809;56810;56811 | chr2:178586613;178586612;178586611 | chr2:179451340;179451339;179451338 |
| N2B | 12365 | 37318;37319;37320 | chr2:178586613;178586612;178586611 | chr2:179451340;179451339;179451338 |
| Novex-1 | 12490 | 37693;37694;37695 | chr2:178586613;178586612;178586611 | chr2:179451340;179451339;179451338 |
| Novex-2 | 12557 | 37894;37895;37896 | chr2:178586613;178586612;178586611 | chr2:179451340;179451339;179451338 |
| 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 | rs1186264863  |
None | 1.0 | N | 0.695 | 0.447 | 0.400468435593 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/A | rs1186264863 |
None | 1.0 | N | 0.695 | 0.447 | 0.400468435593 | gnomAD-4.0.0 | 6.57601E-06 | None | None | None | None | N | None | 2.41348E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/D | None | None | 1.0 | N | 0.757 | 0.427 | 0.379707525713 | gnomAD-4.0.0 | 3.18524E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.72207E-06 | 0 | 0 |
| G/S | rs2049038476 |
None | 1.0 | N | 0.767 | 0.444 | 0.370240404367 | gnomAD-4.0.0 | 1.59258E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43303E-05 | 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 | 0.3472 | ambiguous | 0.3146 | benign | -0.383 | Destabilizing | 1.0 | D | 0.695 | prob.neutral | N | 0.495369432 | None | None | N |
| G/C | 0.5621 | ambiguous | 0.5074 | ambiguous | -0.87 | Destabilizing | 1.0 | D | 0.761 | deleterious | D | 0.53087038 | None | None | N |
| G/D | 0.5062 | ambiguous | 0.4268 | ambiguous | -0.507 | Destabilizing | 1.0 | D | 0.757 | deleterious | N | 0.47155722 | None | None | N |
| G/E | 0.6656 | likely_pathogenic | 0.5852 | pathogenic | -0.628 | Destabilizing | 1.0 | D | 0.765 | deleterious | None | None | None | None | N |
| G/F | 0.911 | likely_pathogenic | 0.8906 | pathogenic | -0.943 | Destabilizing | 1.0 | D | 0.776 | deleterious | None | None | None | None | N |
| G/H | 0.7239 | likely_pathogenic | 0.661 | pathogenic | -0.72 | Destabilizing | 1.0 | D | 0.731 | prob.delet. | None | None | None | None | N |
| G/I | 0.8281 | likely_pathogenic | 0.7993 | pathogenic | -0.317 | Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | N |
| G/K | 0.8308 | likely_pathogenic | 0.773 | pathogenic | -0.928 | Destabilizing | 1.0 | D | 0.767 | deleterious | None | None | None | None | N |
| G/L | 0.8452 | likely_pathogenic | 0.8176 | pathogenic | -0.317 | Destabilizing | 1.0 | D | 0.785 | deleterious | None | None | None | None | N |
| G/M | 0.8489 | likely_pathogenic | 0.8154 | pathogenic | -0.433 | Destabilizing | 1.0 | D | 0.749 | deleterious | None | None | None | None | N |
| G/N | 0.4459 | ambiguous | 0.394 | ambiguous | -0.543 | Destabilizing | 1.0 | D | 0.764 | deleterious | None | None | None | None | N |
| G/P | 0.9728 | likely_pathogenic | 0.9719 | pathogenic | -0.301 | Destabilizing | 1.0 | D | 0.781 | deleterious | None | None | None | None | N |
| G/Q | 0.6965 | likely_pathogenic | 0.6324 | pathogenic | -0.757 | Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | N |
| G/R | 0.7354 | likely_pathogenic | 0.6697 | pathogenic | -0.546 | Destabilizing | 1.0 | D | 0.789 | deleterious | N | 0.476201993 | None | None | N |
| G/S | 0.2202 | likely_benign | 0.1936 | benign | -0.759 | Destabilizing | 1.0 | D | 0.767 | deleterious | N | 0.514118706 | None | None | N |
| G/T | 0.498 | ambiguous | 0.4456 | ambiguous | -0.792 | Destabilizing | 1.0 | D | 0.761 | deleterious | None | None | None | None | N |
| G/V | 0.7001 | likely_pathogenic | 0.6607 | pathogenic | -0.301 | Destabilizing | 1.0 | D | 0.77 | deleterious | D | 0.530363401 | None | None | N |
| G/W | 0.8359 | likely_pathogenic | 0.8021 | pathogenic | -1.159 | Destabilizing | 1.0 | D | 0.745 | deleterious | None | None | None | None | N |
| G/Y | 0.8304 | likely_pathogenic | 0.7911 | pathogenic | -0.782 | Destabilizing | 1.0 | D | 0.769 | 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.