Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 7785 | 23578;23579;23580 | chr2:178720409;178720408;178720407 | chr2:179585136;179585135;179585134 |
| N2AB | 7468 | 22627;22628;22629 | chr2:178720409;178720408;178720407 | chr2:179585136;179585135;179585134 |
| N2A | 6541 | 19846;19847;19848 | chr2:178720409;178720408;178720407 | chr2:179585136;179585135;179585134 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/R | rs371090975  |
-1.417 | 1.0 | D | 0.857 | 0.584 | None | gnomAD-2.1.1 | 5.37E-05 | None | None | None | None | N | None | 6.20245E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| C/R | rs371090975 |
-1.417 | 1.0 | D | 0.857 | 0.584 | None | gnomAD-3.1.2 | 1.64253E-04 | None | None | None | None | N | None | 5.54671E-04 | 1.30907E-04 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| C/R | rs371090975 |
-1.417 | 1.0 | D | 0.857 | 0.584 | None | 1000 genomes | 1.19808E-03 | None | None | None | None | N | None | 4.5E-03 | 0 | None | None | 0 | 0 | None | None | None | 0 | None |
| C/R | rs371090975 |
-1.417 | 1.0 | D | 0.857 | 0.584 | None | gnomAD-4.0.0 | 3.03775E-05 | None | None | None | None | N | None | 5.3349E-04 | 3.33667E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 1.12111E-04 |
| C/Y | rs1315544282 |
-1.931 | 1.0 | N | 0.823 | 0.422 | 0.803992643394 | gnomAD-2.1.1 | 3.18E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 6.48E-05 | 0 |
| C/Y | rs1315544282 |
-1.931 | 1.0 | N | 0.823 | 0.422 | 0.803992643394 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
| C/Y | rs1315544282 |
-1.931 | 1.0 | N | 0.823 | 0.422 | 0.803992643394 | gnomAD-4.0.0 | 3.10018E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 4.2397E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/A | 0.514 | ambiguous | 0.4632 | ambiguous | -2.257 | Highly Destabilizing | 0.93 | D | 0.596 | neutral | None | None | None | None | N |
| C/D | 0.9702 | likely_pathogenic | 0.9547 | pathogenic | -1.524 | Destabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | N |
| C/E | 0.9885 | likely_pathogenic | 0.98 | pathogenic | -1.388 | Destabilizing | 1.0 | D | 0.82 | deleterious | None | None | None | None | N |
| C/F | 0.6211 | likely_pathogenic | 0.4889 | ambiguous | -1.488 | Destabilizing | 1.0 | D | 0.816 | deleterious | N | 0.503570002 | None | None | N |
| C/G | 0.483 | ambiguous | 0.4055 | ambiguous | -2.581 | Highly Destabilizing | 0.972 | D | 0.815 | deleterious | N | 0.490897023 | None | None | N |
| C/H | 0.95 | likely_pathogenic | 0.925 | pathogenic | -2.6 | Highly Destabilizing | 1.0 | D | 0.83 | deleterious | None | None | None | None | N |
| C/I | 0.7383 | likely_pathogenic | 0.6554 | pathogenic | -1.389 | Destabilizing | 0.999 | D | 0.827 | deleterious | None | None | None | None | N |
| C/K | 0.993 | likely_pathogenic | 0.987 | pathogenic | -1.862 | Destabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | None | N |
| C/L | 0.7461 | likely_pathogenic | 0.6682 | pathogenic | -1.389 | Destabilizing | 0.999 | D | 0.79 | deleterious | None | None | None | None | N |
| C/M | 0.8464 | likely_pathogenic | 0.7953 | pathogenic | 0.084 | Stabilizing | 1.0 | D | 0.802 | deleterious | None | None | None | None | N |
| C/N | 0.9308 | likely_pathogenic | 0.9017 | pathogenic | -1.938 | Destabilizing | 1.0 | D | 0.82 | deleterious | None | None | None | None | N |
| C/P | 0.9977 | likely_pathogenic | 0.9967 | pathogenic | -1.657 | Destabilizing | 1.0 | D | 0.852 | deleterious | None | None | None | None | N |
| C/Q | 0.9654 | likely_pathogenic | 0.9456 | pathogenic | -1.785 | Destabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | N |
| C/R | 0.943 | likely_pathogenic | 0.9071 | pathogenic | -1.717 | Destabilizing | 1.0 | D | 0.857 | deleterious | D | 0.528805731 | None | None | N |
| C/S | 0.4522 | ambiguous | 0.4163 | ambiguous | -2.409 | Highly Destabilizing | 0.441 | N | 0.481 | neutral | N | 0.468255917 | None | None | N |
| C/T | 0.6026 | likely_pathogenic | 0.5234 | ambiguous | -2.112 | Highly Destabilizing | 0.968 | D | 0.789 | deleterious | None | None | None | None | N |
| C/V | 0.5808 | likely_pathogenic | 0.4992 | ambiguous | -1.657 | Destabilizing | 0.994 | D | 0.816 | deleterious | None | None | None | None | N |
| C/W | 0.9465 | likely_pathogenic | 0.9146 | pathogenic | -1.596 | Destabilizing | 1.0 | D | 0.787 | deleterious | N | 0.49955753 | None | None | N |
| C/Y | 0.8835 | likely_pathogenic | 0.8238 | pathogenic | -1.619 | Destabilizing | 1.0 | D | 0.823 | deleterious | N | 0.510571441 | 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.