Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 32080 | 96463;96464;96465 | chr2:178543906;178543905;178543904 | chr2:179408633;179408632;179408631 |
| N2AB | 30439 | 91540;91541;91542 | chr2:178543906;178543905;178543904 | chr2:179408633;179408632;179408631 |
| N2A | 29512 | 88759;88760;88761 | chr2:178543906;178543905;178543904 | chr2:179408633;179408632;179408631 |
| N2B | 23015 | 69268;69269;69270 | chr2:178543906;178543905;178543904 | chr2:179408633;179408632;179408631 |
| Novex-1 | 23140 | 69643;69644;69645 | chr2:178543906;178543905;178543904 | chr2:179408633;179408632;179408631 |
| Novex-2 | 23207 | 69844;69845;69846 | chr2:178543906;178543905;178543904 | chr2:179408633;179408632;179408631 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/T | None | None | 0.992 | N | 0.5 | 0.291 | 0.375861065471 | gnomAD-4.0.0 | 1.36849E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79904E-06 | 0 | 0 |
| A/V | None | None | 0.998 | N | 0.585 | 0.429 | 0.69178495124 | gnomAD-4.0.0 | 1.20033E-06 | None | None | None | None | N | None | 6.33473E-05 | 0 | None | 0 | 0 | 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 | 0.6152 | likely_pathogenic | 0.6026 | pathogenic | -0.806 | Destabilizing | 1.0 | D | 0.765 | deleterious | None | None | None | None | N |
| A/D | 0.9255 | likely_pathogenic | 0.9056 | pathogenic | -0.694 | Destabilizing | 0.999 | D | 0.843 | deleterious | N | 0.508053453 | None | None | N |
| A/E | 0.8488 | likely_pathogenic | 0.8293 | pathogenic | -0.722 | Destabilizing | 0.999 | D | 0.755 | deleterious | None | None | None | None | N |
| A/F | 0.7559 | likely_pathogenic | 0.7619 | pathogenic | -0.837 | Destabilizing | 1.0 | D | 0.899 | deleterious | None | None | None | None | N |
| A/G | 0.2476 | likely_benign | 0.2318 | benign | -0.972 | Destabilizing | 0.996 | D | 0.451 | neutral | N | 0.487987415 | None | None | N |
| A/H | 0.862 | likely_pathogenic | 0.8639 | pathogenic | -1.078 | Destabilizing | 1.0 | D | 0.878 | deleterious | None | None | None | None | N |
| A/I | 0.7482 | likely_pathogenic | 0.7219 | pathogenic | -0.197 | Destabilizing | 1.0 | D | 0.862 | deleterious | None | None | None | None | N |
| A/K | 0.9349 | likely_pathogenic | 0.9247 | pathogenic | -1.007 | Destabilizing | 0.999 | D | 0.763 | deleterious | None | None | None | None | N |
| A/L | 0.5807 | likely_pathogenic | 0.5599 | ambiguous | -0.197 | Destabilizing | 0.998 | D | 0.647 | neutral | None | None | None | None | N |
| A/M | 0.5114 | ambiguous | 0.5 | ambiguous | -0.213 | Destabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | N |
| A/N | 0.7382 | likely_pathogenic | 0.7091 | pathogenic | -0.8 | Destabilizing | 0.999 | D | 0.865 | deleterious | None | None | None | None | N |
| A/P | 0.9845 | likely_pathogenic | 0.9744 | pathogenic | -0.329 | Destabilizing | 0.999 | D | 0.861 | deleterious | D | 0.547175252 | None | None | N |
| A/Q | 0.759 | likely_pathogenic | 0.7469 | pathogenic | -0.913 | Destabilizing | 1.0 | D | 0.869 | deleterious | None | None | None | None | N |
| A/R | 0.8638 | likely_pathogenic | 0.8494 | pathogenic | -0.704 | Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | N |
| A/S | 0.1198 | likely_benign | 0.1181 | benign | -1.188 | Destabilizing | 0.905 | D | 0.297 | neutral | N | 0.433393982 | None | None | N |
| A/T | 0.1824 | likely_benign | 0.1708 | benign | -1.109 | Destabilizing | 0.992 | D | 0.5 | neutral | N | 0.469413497 | None | None | N |
| A/V | 0.4648 | ambiguous | 0.4356 | ambiguous | -0.329 | Destabilizing | 0.998 | D | 0.585 | neutral | N | 0.506661102 | None | None | N |
| A/W | 0.9618 | likely_pathogenic | 0.9609 | pathogenic | -1.186 | Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | N |
| A/Y | 0.8542 | likely_pathogenic | 0.861 | pathogenic | -0.753 | Destabilizing | 1.0 | D | 0.895 | 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.