Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 15199 | 45820;45821;45822 | chr2:178621123;178621122;178621121 | chr2:179485850;179485849;179485848 |
| N2AB | 13558 | 40897;40898;40899 | chr2:178621123;178621122;178621121 | chr2:179485850;179485849;179485848 |
| N2A | 12631 | 38116;38117;38118 | chr2:178621123;178621122;178621121 | chr2:179485850;179485849;179485848 |
| N2B | 6134 | 18625;18626;18627 | chr2:178621123;178621122;178621121 | chr2:179485850;179485849;179485848 |
| Novex-1 | 6259 | 19000;19001;19002 | chr2:178621123;178621122;178621121 | chr2:179485850;179485849;179485848 |
| Novex-2 | 6326 | 19201;19202;19203 | chr2:178621123;178621122;178621121 | chr2:179485850;179485849;179485848 |
| 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/E | None | None | 0.27 | N | 0.484 | 0.147 | 0.329282125956 | gnomAD-4.0.0 | 3.60097E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.9375E-06 | 0 | 0 |
| A/T | None | None | 0.01 | N | 0.26 | 0.065 | 0.20549828249 | gnomAD-4.0.0 | 3.60097E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.9375E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.7155 | likely_pathogenic | 0.6517 | pathogenic | -0.766 | Destabilizing | 0.995 | D | 0.547 | neutral | None | None | None | None | N |
| A/D | 0.5354 | ambiguous | 0.5973 | pathogenic | -0.889 | Destabilizing | 0.704 | D | 0.491 | neutral | None | None | None | None | N |
| A/E | 0.4129 | ambiguous | 0.4383 | ambiguous | -0.964 | Destabilizing | 0.27 | N | 0.484 | neutral | N | 0.440456973 | None | None | N |
| A/F | 0.5167 | ambiguous | 0.5406 | ambiguous | -0.98 | Destabilizing | 0.944 | D | 0.526 | neutral | None | None | None | None | N |
| A/G | 0.2245 | likely_benign | 0.2318 | benign | -0.936 | Destabilizing | 0.425 | N | 0.414 | neutral | N | 0.449189196 | None | None | N |
| A/H | 0.7042 | likely_pathogenic | 0.7085 | pathogenic | -1.139 | Destabilizing | 0.981 | D | 0.509 | neutral | None | None | None | None | N |
| A/I | 0.3865 | ambiguous | 0.4105 | ambiguous | -0.339 | Destabilizing | 0.704 | D | 0.531 | neutral | None | None | None | None | N |
| A/K | 0.6799 | likely_pathogenic | 0.6916 | pathogenic | -1.079 | Destabilizing | 0.007 | N | 0.276 | neutral | None | None | None | None | N |
| A/L | 0.3178 | likely_benign | 0.3362 | benign | -0.339 | Destabilizing | 0.329 | N | 0.481 | neutral | None | None | None | None | N |
| A/M | 0.3482 | ambiguous | 0.3372 | benign | -0.28 | Destabilizing | 0.981 | D | 0.515 | neutral | None | None | None | None | N |
| A/N | 0.3684 | ambiguous | 0.4189 | ambiguous | -0.699 | Destabilizing | 0.704 | D | 0.473 | neutral | None | None | None | None | N |
| A/P | 0.4403 | ambiguous | 0.4465 | ambiguous | -0.428 | Destabilizing | 0.006 | N | 0.289 | neutral | N | 0.447524837 | None | None | N |
| A/Q | 0.4881 | ambiguous | 0.4823 | ambiguous | -0.901 | Destabilizing | 0.704 | D | 0.554 | neutral | None | None | None | None | N |
| A/R | 0.6432 | likely_pathogenic | 0.6391 | pathogenic | -0.707 | Destabilizing | 0.543 | D | 0.503 | neutral | None | None | None | None | N |
| A/S | 0.107 | likely_benign | 0.1127 | benign | -0.999 | Destabilizing | 0.029 | N | 0.282 | neutral | N | 0.332579842 | None | None | N |
| A/T | 0.1033 | likely_benign | 0.1201 | benign | -0.984 | Destabilizing | 0.01 | N | 0.26 | neutral | N | 0.370771263 | None | None | N |
| A/V | 0.1911 | likely_benign | 0.2056 | benign | -0.428 | Destabilizing | 0.27 | N | 0.467 | neutral | N | 0.447060823 | None | None | N |
| A/W | 0.9046 | likely_pathogenic | 0.8944 | pathogenic | -1.267 | Destabilizing | 0.995 | D | 0.562 | neutral | None | None | None | None | N |
| A/Y | 0.7163 | likely_pathogenic | 0.7266 | pathogenic | -0.882 | Destabilizing | 0.981 | D | 0.523 | neutral | 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.