Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 25251 | 75976;75977;75978 | chr2:178570381;178570380;178570379 | chr2:179435108;179435107;179435106 |
| N2AB | 23610 | 71053;71054;71055 | chr2:178570381;178570380;178570379 | chr2:179435108;179435107;179435106 |
| N2A | 22683 | 68272;68273;68274 | chr2:178570381;178570380;178570379 | chr2:179435108;179435107;179435106 |
| N2B | 16186 | 48781;48782;48783 | chr2:178570381;178570380;178570379 | chr2:179435108;179435107;179435106 |
| Novex-1 | 16311 | 49156;49157;49158 | chr2:178570381;178570380;178570379 | chr2:179435108;179435107;179435106 |
| Novex-2 | 16378 | 49357;49358;49359 | chr2:178570381;178570380;178570379 | chr2:179435108;179435107;179435106 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | rs765677670  |
-0.672 | 0.999 | N | 0.503 | 0.321 | 0.607460342511 | gnomAD-2.1.1 | 7.18E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 1.03563E-04 | None | 0 | None | 0 | 0 | 0 |
| V/A | rs765677670 |
-0.672 | 0.999 | N | 0.503 | 0.321 | 0.607460342511 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 1.93723E-04 | None | 0 | 0 | 0 | 4.13736E-04 | 0 |
| V/A | rs765677670 |
-0.672 | 0.999 | N | 0.503 | 0.321 | 0.607460342511 | gnomAD-4.0.0 | 4.06027E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 1.1374E-04 | None | 0 | 0 | 0 | 1.40885E-04 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.2881 | likely_benign | 0.326 | benign | -0.538 | Destabilizing | 0.999 | D | 0.503 | neutral | N | 0.382721941 | None | None | I |
| V/C | 0.82 | likely_pathogenic | 0.8664 | pathogenic | -0.656 | Destabilizing | 1.0 | D | 0.624 | neutral | None | None | None | None | I |
| V/D | 0.8619 | likely_pathogenic | 0.902 | pathogenic | -0.327 | Destabilizing | 1.0 | D | 0.722 | prob.delet. | N | 0.429723667 | None | None | I |
| V/E | 0.789 | likely_pathogenic | 0.8286 | pathogenic | -0.404 | Destabilizing | 1.0 | D | 0.645 | neutral | None | None | None | None | I |
| V/F | 0.3602 | ambiguous | 0.3935 | ambiguous | -0.612 | Destabilizing | 1.0 | D | 0.612 | neutral | N | 0.492660424 | None | None | I |
| V/G | 0.4354 | ambiguous | 0.4851 | ambiguous | -0.69 | Destabilizing | 1.0 | D | 0.701 | prob.neutral | N | 0.42845423 | None | None | I |
| V/H | 0.8484 | likely_pathogenic | 0.8798 | pathogenic | -0.102 | Destabilizing | 1.0 | D | 0.729 | prob.delet. | None | None | None | None | I |
| V/I | 0.1281 | likely_benign | 0.1319 | benign | -0.27 | Destabilizing | 0.997 | D | 0.483 | neutral | N | 0.462857592 | None | None | I |
| V/K | 0.8432 | likely_pathogenic | 0.8847 | pathogenic | -0.486 | Destabilizing | 1.0 | D | 0.652 | neutral | None | None | None | None | I |
| V/L | 0.2864 | likely_benign | 0.3134 | benign | -0.27 | Destabilizing | 0.997 | D | 0.529 | neutral | N | 0.423568486 | None | None | I |
| V/M | 0.32 | likely_benign | 0.3437 | ambiguous | -0.515 | Destabilizing | 1.0 | D | 0.581 | neutral | None | None | None | None | I |
| V/N | 0.5347 | ambiguous | 0.6004 | pathogenic | -0.297 | Destabilizing | 1.0 | D | 0.731 | prob.delet. | None | None | None | None | I |
| V/P | 0.8614 | likely_pathogenic | 0.876 | pathogenic | -0.326 | Destabilizing | 1.0 | D | 0.681 | prob.neutral | None | None | None | None | I |
| V/Q | 0.6649 | likely_pathogenic | 0.7102 | pathogenic | -0.485 | Destabilizing | 1.0 | D | 0.691 | prob.neutral | None | None | None | None | I |
| V/R | 0.7415 | likely_pathogenic | 0.7996 | pathogenic | 0.008 | Stabilizing | 1.0 | D | 0.731 | prob.delet. | None | None | None | None | I |
| V/S | 0.3431 | ambiguous | 0.3981 | ambiguous | -0.663 | Destabilizing | 1.0 | D | 0.66 | neutral | None | None | None | None | I |
| V/T | 0.4091 | ambiguous | 0.438 | ambiguous | -0.638 | Destabilizing | 0.999 | D | 0.527 | neutral | None | None | None | None | I |
| V/W | 0.9516 | likely_pathogenic | 0.9649 | pathogenic | -0.701 | Destabilizing | 1.0 | D | 0.739 | prob.delet. | None | None | None | None | I |
| V/Y | 0.8101 | likely_pathogenic | 0.8489 | pathogenic | -0.415 | Destabilizing | 1.0 | D | 0.614 | neutral | None | None | None | None | I |
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.