Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 23575 | 70948;70949;70950 | chr2:178575409;178575408;178575407 | chr2:179440136;179440135;179440134 |
| N2AB | 21934 | 66025;66026;66027 | chr2:178575409;178575408;178575407 | chr2:179440136;179440135;179440134 |
| N2A | 21007 | 63244;63245;63246 | chr2:178575409;178575408;178575407 | chr2:179440136;179440135;179440134 |
| N2B | 14510 | 43753;43754;43755 | chr2:178575409;178575408;178575407 | chr2:179440136;179440135;179440134 |
| Novex-1 | 14635 | 44128;44129;44130 | chr2:178575409;178575408;178575407 | chr2:179440136;179440135;179440134 |
| Novex-2 | 14702 | 44329;44330;44331 | chr2:178575409;178575408;178575407 | chr2:179440136;179440135;179440134 |
| 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 | rs754974293  |
-0.435 | 0.344 | N | 0.415 | 0.182 | None | gnomAD-2.1.1 | 1.61E-05 | None | None | None | None | N | None | 0 | 5.8E-05 | None | 0 | 0 | None | 0 | None | 0 | 1.78E-05 | 0 |
| G/D | rs754974293 |
-0.435 | 0.344 | N | 0.415 | 0.182 | None | gnomAD-4.0.0 | 1.02644E-05 | None | None | None | None | N | None | 0 | 2.23634E-05 | None | 0 | 0 | None | 0 | 0 | 1.16941E-05 | 0 | 1.65678E-05 |
| G/R | None | None | 1.0 | N | 0.693 | 0.363 | 0.502568190621 | gnomAD-4.0.0 | 1.59171E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85914E-06 | 0 | 0 |
| G/V | rs754974293 |
-0.199 | 1.0 | N | 0.718 | 0.321 | 0.497806138765 | gnomAD-4.0.0 | 6.84293E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.15945E-05 | 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 | 0.2816 | likely_benign | 0.2708 | benign | -0.279 | Destabilizing | 0.994 | D | 0.479 | neutral | N | 0.520119171 | None | None | N |
| G/C | 0.4403 | ambiguous | 0.4109 | ambiguous | -0.957 | Destabilizing | 1.0 | D | 0.738 | prob.delet. | N | 0.515938768 | None | None | N |
| G/D | 0.1765 | likely_benign | 0.1795 | benign | -0.661 | Destabilizing | 0.344 | N | 0.415 | neutral | N | 0.486542529 | None | None | N |
| G/E | 0.3248 | likely_benign | 0.3136 | benign | -0.823 | Destabilizing | 0.997 | D | 0.551 | neutral | None | None | None | None | N |
| G/F | 0.7615 | likely_pathogenic | 0.7473 | pathogenic | -1.053 | Destabilizing | 1.0 | D | 0.731 | prob.delet. | None | None | None | None | N |
| G/H | 0.5521 | ambiguous | 0.5282 | ambiguous | -0.377 | Destabilizing | 1.0 | D | 0.693 | prob.neutral | None | None | None | None | N |
| G/I | 0.5467 | ambiguous | 0.5118 | ambiguous | -0.531 | Destabilizing | 1.0 | D | 0.733 | prob.delet. | None | None | None | None | N |
| G/K | 0.7281 | likely_pathogenic | 0.7058 | pathogenic | -0.731 | Destabilizing | 1.0 | D | 0.665 | neutral | None | None | None | None | N |
| G/L | 0.7026 | likely_pathogenic | 0.6865 | pathogenic | -0.531 | Destabilizing | 1.0 | D | 0.719 | prob.delet. | None | None | None | None | N |
| G/M | 0.7109 | likely_pathogenic | 0.6861 | pathogenic | -0.665 | Destabilizing | 1.0 | D | 0.733 | prob.delet. | None | None | None | None | N |
| G/N | 0.2474 | likely_benign | 0.2511 | benign | -0.402 | Destabilizing | 1.0 | D | 0.555 | neutral | None | None | None | None | N |
| G/P | 0.9299 | likely_pathogenic | 0.9344 | pathogenic | -0.421 | Destabilizing | 1.0 | D | 0.675 | neutral | None | None | None | None | N |
| G/Q | 0.5555 | ambiguous | 0.5292 | ambiguous | -0.682 | Destabilizing | 1.0 | D | 0.693 | prob.neutral | None | None | None | None | N |
| G/R | 0.6608 | likely_pathogenic | 0.6235 | pathogenic | -0.291 | Destabilizing | 1.0 | D | 0.693 | prob.neutral | N | 0.483373881 | None | None | N |
| G/S | 0.158 | likely_benign | 0.154 | benign | -0.531 | Destabilizing | 0.987 | D | 0.507 | neutral | N | 0.496548879 | None | None | N |
| G/T | 0.2928 | likely_benign | 0.2815 | benign | -0.63 | Destabilizing | 1.0 | D | 0.67 | neutral | None | None | None | None | N |
| G/V | 0.4197 | ambiguous | 0.3875 | ambiguous | -0.421 | Destabilizing | 1.0 | D | 0.718 | prob.delet. | N | 0.484641329 | None | None | N |
| G/W | 0.6677 | likely_pathogenic | 0.6337 | pathogenic | -1.151 | Destabilizing | 1.0 | D | 0.716 | prob.delet. | None | None | None | None | N |
| G/Y | 0.607 | likely_pathogenic | 0.5765 | pathogenic | -0.845 | Destabilizing | 1.0 | D | 0.729 | prob.delet. | 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.