Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 26448 | 79567;79568;79569 | chr2:178566790;178566789;178566788 | chr2:179431517;179431516;179431515 |
| N2AB | 24807 | 74644;74645;74646 | chr2:178566790;178566789;178566788 | chr2:179431517;179431516;179431515 |
| N2A | 23880 | 71863;71864;71865 | chr2:178566790;178566789;178566788 | chr2:179431517;179431516;179431515 |
| N2B | 17383 | 52372;52373;52374 | chr2:178566790;178566789;178566788 | chr2:179431517;179431516;179431515 |
| Novex-1 | 17508 | 52747;52748;52749 | chr2:178566790;178566789;178566788 | chr2:179431517;179431516;179431515 |
| Novex-2 | 17575 | 52948;52949;52950 | chr2:178566790;178566789;178566788 | chr2:179431517;179431516;179431515 |
| 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/G | rs1553590427  |
None | 1.0 | D | 0.79 | 0.702 | 0.928233509922 | gnomAD-4.0.0 | 3.42193E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 4.49762E-06 | 0 | 0 |
| V/M | rs1380054566 |
-0.519 | 1.0 | D | 0.687 | 0.38 | 0.532311620844 | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 2.67E-05 | 0 |
| V/M | rs1380054566 |
-0.519 | 1.0 | D | 0.687 | 0.38 | 0.532311620844 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| V/M | rs1380054566 |
-0.519 | 1.0 | D | 0.687 | 0.38 | 0.532311620844 | gnomAD-4.0.0 | 2.85135E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.8993E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.67 | likely_pathogenic | 0.6561 | pathogenic | -1.912 | Destabilizing | 0.999 | D | 0.613 | neutral | N | 0.477176271 | None | None | N |
| V/C | 0.9186 | likely_pathogenic | 0.9125 | pathogenic | -1.566 | Destabilizing | 1.0 | D | 0.717 | prob.delet. | None | None | None | None | N |
| V/D | 0.9958 | likely_pathogenic | 0.9965 | pathogenic | -1.711 | Destabilizing | 1.0 | D | 0.767 | deleterious | None | None | None | None | N |
| V/E | 0.986 | likely_pathogenic | 0.9878 | pathogenic | -1.551 | Destabilizing | 1.0 | D | 0.76 | deleterious | D | 0.557266294 | None | None | N |
| V/F | 0.8292 | likely_pathogenic | 0.8494 | pathogenic | -1.193 | Destabilizing | 1.0 | D | 0.704 | prob.neutral | None | None | None | None | N |
| V/G | 0.8966 | likely_pathogenic | 0.9095 | pathogenic | -2.413 | Highly Destabilizing | 1.0 | D | 0.79 | deleterious | D | 0.545745404 | None | None | N |
| V/H | 0.9954 | likely_pathogenic | 0.996 | pathogenic | -1.986 | Destabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | N |
| V/I | 0.1122 | likely_benign | 0.1072 | benign | -0.556 | Destabilizing | 0.998 | D | 0.515 | neutral | None | None | None | None | N |
| V/K | 0.9942 | likely_pathogenic | 0.9952 | pathogenic | -1.58 | Destabilizing | 1.0 | D | 0.759 | deleterious | None | None | None | None | N |
| V/L | 0.6987 | likely_pathogenic | 0.7056 | pathogenic | -0.556 | Destabilizing | 0.997 | D | 0.633 | neutral | N | 0.465390849 | None | None | N |
| V/M | 0.6635 | likely_pathogenic | 0.6684 | pathogenic | -0.578 | Destabilizing | 1.0 | D | 0.687 | prob.neutral | D | 0.53388212 | None | None | N |
| V/N | 0.981 | likely_pathogenic | 0.9812 | pathogenic | -1.694 | Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | N |
| V/P | 0.9907 | likely_pathogenic | 0.9917 | pathogenic | -0.976 | Destabilizing | 1.0 | D | 0.744 | deleterious | None | None | None | None | N |
| V/Q | 0.9849 | likely_pathogenic | 0.9864 | pathogenic | -1.602 | Destabilizing | 1.0 | D | 0.788 | deleterious | None | None | None | None | N |
| V/R | 0.991 | likely_pathogenic | 0.9919 | pathogenic | -1.341 | Destabilizing | 1.0 | D | 0.812 | deleterious | None | None | None | None | N |
| V/S | 0.905 | likely_pathogenic | 0.9069 | pathogenic | -2.418 | Highly Destabilizing | 1.0 | D | 0.761 | deleterious | None | None | None | None | N |
| V/T | 0.8654 | likely_pathogenic | 0.8675 | pathogenic | -2.1 | Highly Destabilizing | 0.999 | D | 0.565 | neutral | None | None | None | None | N |
| V/W | 0.9975 | likely_pathogenic | 0.9977 | pathogenic | -1.529 | Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | N |
| V/Y | 0.9851 | likely_pathogenic | 0.9866 | pathogenic | -1.18 | Destabilizing | 1.0 | D | 0.699 | prob.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.