Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 31083 | 93472;93473;93474 | chr2:178548379;178548378;178548377 | chr2:179413106;179413105;179413104 |
| N2AB | 29442 | 88549;88550;88551 | chr2:178548379;178548378;178548377 | chr2:179413106;179413105;179413104 |
| N2A | 28515 | 85768;85769;85770 | chr2:178548379;178548378;178548377 | chr2:179413106;179413105;179413104 |
| N2B | 22018 | 66277;66278;66279 | chr2:178548379;178548378;178548377 | chr2:179413106;179413105;179413104 |
| Novex-1 | 22143 | 66652;66653;66654 | chr2:178548379;178548378;178548377 | chr2:179413106;179413105;179413104 |
| Novex-2 | 22210 | 66853;66854;66855 | chr2:178548379;178548378;178548377 | chr2:179413106;179413105;179413104 |
| 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 | None | None | 0.898 | N | 0.609 | 0.483 | 0.32082282376 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 6.33473E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/S | rs1028442562  |
None | 1.0 | N | 0.794 | 0.615 | 0.347879110917 | gnomAD-4.0.0 | 1.36836E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79888E-05 | 0 | 0 |
| G/V | None | None | 1.0 | D | 0.871 | 0.586 | 0.854487851065 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-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 | 0.3157 | likely_benign | 0.3109 | benign | -0.448 | Destabilizing | 1.0 | D | 0.713 | prob.delet. | N | 0.501561177 | None | None | N |
| G/C | 0.5338 | ambiguous | 0.5392 | ambiguous | -0.906 | Destabilizing | 1.0 | D | 0.861 | deleterious | D | 0.563497719 | None | None | N |
| G/D | 0.5413 | ambiguous | 0.5117 | ambiguous | -0.897 | Destabilizing | 0.898 | D | 0.609 | neutral | N | 0.503015981 | None | None | N |
| G/E | 0.6243 | likely_pathogenic | 0.5913 | pathogenic | -1.048 | Destabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | N |
| G/F | 0.9062 | likely_pathogenic | 0.9071 | pathogenic | -1.087 | Destabilizing | 1.0 | D | 0.866 | deleterious | None | None | None | None | N |
| G/H | 0.7522 | likely_pathogenic | 0.7388 | pathogenic | -0.761 | Destabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | N |
| G/I | 0.8318 | likely_pathogenic | 0.8382 | pathogenic | -0.513 | Destabilizing | 1.0 | D | 0.873 | deleterious | None | None | None | None | N |
| G/K | 0.8073 | likely_pathogenic | 0.7589 | pathogenic | -1.125 | Destabilizing | 1.0 | D | 0.875 | deleterious | None | None | None | None | N |
| G/L | 0.8203 | likely_pathogenic | 0.824 | pathogenic | -0.513 | Destabilizing | 1.0 | D | 0.87 | deleterious | None | None | None | None | N |
| G/M | 0.7749 | likely_pathogenic | 0.774 | pathogenic | -0.556 | Destabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | N |
| G/N | 0.4454 | ambiguous | 0.4177 | ambiguous | -0.731 | Destabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | N |
| G/P | 0.9774 | likely_pathogenic | 0.9814 | pathogenic | -0.457 | Destabilizing | 1.0 | D | 0.883 | deleterious | None | None | None | None | N |
| G/Q | 0.7039 | likely_pathogenic | 0.6879 | pathogenic | -1.016 | Destabilizing | 1.0 | D | 0.891 | deleterious | None | None | None | None | N |
| G/R | 0.7356 | likely_pathogenic | 0.6983 | pathogenic | -0.634 | Destabilizing | 1.0 | D | 0.893 | deleterious | D | 0.535732225 | None | None | N |
| G/S | 0.2233 | likely_benign | 0.2313 | benign | -0.837 | Destabilizing | 1.0 | D | 0.794 | deleterious | N | 0.515853543 | None | None | N |
| G/T | 0.4275 | ambiguous | 0.4353 | ambiguous | -0.924 | Destabilizing | 1.0 | D | 0.877 | deleterious | None | None | None | None | N |
| G/V | 0.6809 | likely_pathogenic | 0.7007 | pathogenic | -0.457 | Destabilizing | 1.0 | D | 0.871 | deleterious | D | 0.551634434 | None | None | N |
| G/W | 0.8377 | likely_pathogenic | 0.8183 | pathogenic | -1.273 | Destabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | N |
| G/Y | 0.8091 | likely_pathogenic | 0.7893 | pathogenic | -0.936 | Destabilizing | 1.0 | D | 0.859 | 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.