Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 93 | 502;503;504 | chr2:178802156;178802155;178802154 | chr2:179666883;179666882;179666881 |
| N2AB | 93 | 502;503;504 | chr2:178802156;178802155;178802154 | chr2:179666883;179666882;179666881 |
| N2A | 93 | 502;503;504 | chr2:178802156;178802155;178802154 | chr2:179666883;179666882;179666881 |
| N2B | 93 | 502;503;504 | chr2:178802156;178802155;178802154 | chr2:179666883;179666882;179666881 |
| Novex-1 | 93 | 502;503;504 | chr2:178802156;178802155;178802154 | chr2:179666883;179666882;179666881 |
| Novex-2 | 93 | 502;503;504 | chr2:178802156;178802155;178802154 | chr2:179666883;179666882;179666881 |
| Novex-3 | 93 | 502;503;504 | chr2:178802156;178802155;178802154 | chr2:179666883;179666882;179666881 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/S | None | None | 1.0 | D | 0.613 | 0.562 | 0.552166673682 | gnomAD-4.0.0 | 2.05225E-06 | None | None | None | -1.319(TCAP) | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.69795E-06 | 0 | 0 |
| A/T | rs1575009860  |
None | 1.0 | D | 0.73 | 0.573 | 0.57907379108 | gnomAD-4.0.0 | 2.05225E-06 | None | None | None | -1.535(TCAP) | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.69795E-06 | 0 | 0 |
| A/V | rs1473207810 |
-0.094 | 1.0 | D | 0.659 | 0.439 | 0.594056560588 | gnomAD-2.1.1 | 3.98E-06 | None | None | None | -1.969(TCAP) | N | None | 0 | 0 | None | 0 | 5.44E-05 | None | 0 | None | 0 | 0 | 0 |
| A/V | rs1473207810 |
-0.094 | 1.0 | D | 0.659 | 0.439 | 0.594056560588 | gnomAD-4.0.0 | 1.59052E-06 | None | None | None | -1.969(TCAP) | N | None | 0 | 0 | None | 0 | 2.77285E-05 | None | 0 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.9261 | likely_pathogenic | 0.9187 | pathogenic | -1.278 | Destabilizing | 1.0 | D | 0.744 | deleterious | None | None | None | -1.048(TCAP) | N |
| A/D | 0.9704 | likely_pathogenic | 0.9705 | pathogenic | -1.052 | Destabilizing | 1.0 | D | 0.897 | deleterious | D | 0.80023796 | None | -1.616(TCAP) | N |
| A/E | 0.9517 | likely_pathogenic | 0.9553 | pathogenic | -0.978 | Destabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | -1.781(TCAP) | N |
| A/F | 0.9441 | likely_pathogenic | 0.9475 | pathogenic | -0.873 | Destabilizing | 1.0 | D | 0.906 | deleterious | None | None | None | -1.57(TCAP) | N |
| A/G | 0.3647 | ambiguous | 0.345 | ambiguous | -1.307 | Destabilizing | 0.999 | D | 0.601 | neutral | N | 0.521624638 | None | -1.455(TCAP) | N |
| A/H | 0.983 | likely_pathogenic | 0.9838 | pathogenic | -1.432 | Destabilizing | 1.0 | D | 0.876 | deleterious | None | None | None | -1.285(TCAP) | N |
| A/I | 0.84 | likely_pathogenic | 0.8522 | pathogenic | -0.057 | Destabilizing | 1.0 | D | 0.887 | deleterious | None | None | None | -2.152(TCAP) | N |
| A/K | 0.9856 | likely_pathogenic | 0.9861 | pathogenic | -0.905 | Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | -2.516(TCAP) | N |
| A/L | 0.7726 | likely_pathogenic | 0.7773 | pathogenic | -0.057 | Destabilizing | 1.0 | D | 0.828 | deleterious | None | None | None | -2.152(TCAP) | N |
| A/M | 0.8017 | likely_pathogenic | 0.8062 | pathogenic | -0.347 | Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | -1.157(TCAP) | N |
| A/N | 0.9598 | likely_pathogenic | 0.9585 | pathogenic | -0.89 | Destabilizing | 1.0 | D | 0.905 | deleterious | None | None | None | -1.203(TCAP) | N |
| A/P | 0.9951 | likely_pathogenic | 0.9949 | pathogenic | -0.31 | Destabilizing | 1.0 | D | 0.885 | deleterious | D | 0.766024154 | None | -1.969(TCAP) | N |
| A/Q | 0.94 | likely_pathogenic | 0.941 | pathogenic | -0.89 | Destabilizing | 1.0 | D | 0.885 | deleterious | None | None | None | -1.475(TCAP) | N |
| A/R | 0.9628 | likely_pathogenic | 0.9635 | pathogenic | -0.838 | Destabilizing | 1.0 | D | 0.887 | deleterious | None | None | None | -2.455(TCAP) | N |
| A/S | 0.2517 | likely_benign | 0.254 | benign | -1.436 | Destabilizing | 1.0 | D | 0.613 | neutral | D | 0.626692259 | None | -1.319(TCAP) | N |
| A/T | 0.3087 | likely_benign | 0.3166 | benign | -1.231 | Destabilizing | 1.0 | D | 0.73 | prob.delet. | D | 0.598909062 | None | -1.535(TCAP) | N |
| A/V | 0.4902 | ambiguous | 0.507 | ambiguous | -0.31 | Destabilizing | 1.0 | D | 0.659 | neutral | D | 0.561392695 | None | -1.969(TCAP) | N |
| A/W | 0.9949 | likely_pathogenic | 0.9954 | pathogenic | -1.288 | Destabilizing | 1.0 | D | 0.856 | deleterious | None | None | None | -1.639(TCAP) | N |
| A/Y | 0.982 | likely_pathogenic | 0.9825 | pathogenic | -0.798 | Destabilizing | 1.0 | D | 0.9 | deleterious | None | None | None | -1.382(TCAP) | 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.