Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 35197 | 105814;105815;105816 | chr2:178531026;178531025;178531024 | chr2:179395753;179395752;179395751 |
| N2AB | 33556 | 100891;100892;100893 | chr2:178531026;178531025;178531024 | chr2:179395753;179395752;179395751 |
| N2A | 32629 | 98110;98111;98112 | chr2:178531026;178531025;178531024 | chr2:179395753;179395752;179395751 |
| N2B | 26132 | 78619;78620;78621 | chr2:178531026;178531025;178531024 | chr2:179395753;179395752;179395751 |
| Novex-1 | 26257 | 78994;78995;78996 | chr2:178531026;178531025;178531024 | chr2:179395753;179395752;179395751 |
| Novex-2 | 26324 | 79195;79196;79197 | chr2:178531026;178531025;178531024 | chr2:179395753;179395752;179395751 |
| 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/D | rs397517796  |
-1.997 | 1.0 | D | 0.811 | 0.786 | None | gnomAD-2.1.1 | 6.42E-05 | None | None | None | None | N | None | 0 | 2.83E-05 | None | 0 | 5.12E-05 | None | 3.27E-05 | None | 0 | 1.16881E-04 | 0 |
| G/D | rs397517796 |
-1.997 | 1.0 | D | 0.811 | 0.786 | None | gnomAD-3.1.2 | 2.63E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 5.88E-05 | 0 | 0 |
| G/D | rs397517796 |
-1.997 | 1.0 | D | 0.811 | 0.786 | None | gnomAD-4.0.0 | 4.33766E-05 | None | None | None | None | N | None | 0 | 5.0005E-05 | None | 0 | 2.22727E-05 | None | 0 | 3.28839E-04 | 3.89865E-05 | 1.53711E-04 | 6.4041E-05 |
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 | 0.5424 | ambiguous | 0.5219 | ambiguous | -0.742 | Destabilizing | 0.999 | D | 0.734 | prob.delet. | D | 0.572380085 | None | None | N |
| G/C | 0.8552 | likely_pathogenic | 0.8177 | pathogenic | -0.929 | Destabilizing | 1.0 | D | 0.759 | deleterious | D | 0.658552455 | None | None | N |
| G/D | 0.7005 | likely_pathogenic | 0.6797 | pathogenic | -1.183 | Destabilizing | 1.0 | D | 0.811 | deleterious | D | 0.612876739 | None | None | N |
| G/E | 0.7979 | likely_pathogenic | 0.7733 | pathogenic | -1.206 | Destabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | N |
| G/F | 0.9838 | likely_pathogenic | 0.9811 | pathogenic | -1.02 | Destabilizing | 1.0 | D | 0.778 | deleterious | None | None | None | None | N |
| G/H | 0.979 | likely_pathogenic | 0.975 | pathogenic | -1.423 | Destabilizing | 1.0 | D | 0.725 | prob.delet. | None | None | None | None | N |
| G/I | 0.9631 | likely_pathogenic | 0.9571 | pathogenic | -0.234 | Destabilizing | 1.0 | D | 0.788 | deleterious | None | None | None | None | N |
| G/K | 0.9673 | likely_pathogenic | 0.9648 | pathogenic | -1.207 | Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | N |
| G/L | 0.9622 | likely_pathogenic | 0.958 | pathogenic | -0.234 | Destabilizing | 1.0 | D | 0.783 | deleterious | None | None | None | None | N |
| G/M | 0.9677 | likely_pathogenic | 0.9611 | pathogenic | -0.196 | Destabilizing | 1.0 | D | 0.754 | deleterious | None | None | None | None | N |
| G/N | 0.8902 | likely_pathogenic | 0.8786 | pathogenic | -0.956 | Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | N |
| G/P | 0.9977 | likely_pathogenic | 0.998 | pathogenic | -0.361 | Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | N |
| G/Q | 0.9259 | likely_pathogenic | 0.9121 | pathogenic | -1.081 | Destabilizing | 1.0 | D | 0.804 | deleterious | None | None | None | None | N |
| G/R | 0.9332 | likely_pathogenic | 0.9275 | pathogenic | -0.957 | Destabilizing | 1.0 | D | 0.813 | deleterious | D | 0.658350651 | None | None | N |
| G/S | 0.4651 | ambiguous | 0.4364 | ambiguous | -1.267 | Destabilizing | 1.0 | D | 0.828 | deleterious | D | 0.641695516 | None | None | N |
| G/T | 0.8611 | likely_pathogenic | 0.8411 | pathogenic | -1.198 | Destabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | N |
| G/V | 0.9133 | likely_pathogenic | 0.9018 | pathogenic | -0.361 | Destabilizing | 1.0 | D | 0.793 | deleterious | D | 0.658552455 | None | None | N |
| G/W | 0.9615 | likely_pathogenic | 0.9571 | pathogenic | -1.446 | Destabilizing | 1.0 | D | 0.765 | deleterious | None | None | None | None | N |
| G/Y | 0.9714 | likely_pathogenic | 0.9679 | pathogenic | -0.99 | Destabilizing | 1.0 | D | 0.767 | 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.