Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33976 | 102151;102152;102153 | chr2:178534689;178534688;178534687 | chr2:179399416;179399415;179399414 |
| N2AB | 32335 | 97228;97229;97230 | chr2:178534689;178534688;178534687 | chr2:179399416;179399415;179399414 |
| N2A | 31408 | 94447;94448;94449 | chr2:178534689;178534688;178534687 | chr2:179399416;179399415;179399414 |
| N2B | 24911 | 74956;74957;74958 | chr2:178534689;178534688;178534687 | chr2:179399416;179399415;179399414 |
| Novex-1 | 25036 | 75331;75332;75333 | chr2:178534689;178534688;178534687 | chr2:179399416;179399415;179399414 |
| Novex-2 | 25103 | 75532;75533;75534 | chr2:178534689;178534688;178534687 | chr2:179399416;179399415;179399414 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
- RefSeq wild type amino acid: F
- RefSeq wild type transcript codon: TTC
- RefSeq wild type template codon: AAG
- Domain: Kinase-1
- Domain position: 164
- Q(SASA): 0.0925
- Predicted PPI site: N
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/L | None | None | None | N | None | 0.493 | 0.468834750356 | gnomAD-4.0.0 | 1.59127E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43283E-05 | 0 |
| F/S | None | None | None | N | None | 0.491 | 0.74021432234 | gnomAD-4.0.0 | 6.84211E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99473E-07 | 0 | 0 |
| F/Y | None | None | None | N | None | 0.163 | 0.418467456957 | gnomAD-4.0.0 | 1.36842E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79895E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/A | 0.9737 | likely_pathogenic | 0.9762 | pathogenic | -2.74 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| F/C | 0.8886 | likely_pathogenic | 0.9247 | pathogenic | -1.466 | Destabilizing | None | None | None | None | N | 0.412842565 | None | None | N |
| F/D | 0.9941 | likely_pathogenic | 0.9941 | pathogenic | -2.992 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| F/E | 0.9939 | likely_pathogenic | 0.9944 | pathogenic | -2.814 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| F/G | 0.9854 | likely_pathogenic | 0.9882 | pathogenic | -3.151 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| F/H | 0.9429 | likely_pathogenic | 0.9519 | pathogenic | -1.59 | Destabilizing | None | None | None | None | None | None | None | None | N |
| F/I | 0.8952 | likely_pathogenic | 0.885 | pathogenic | -1.413 | Destabilizing | None | None | None | None | N | 0.442338752 | None | None | N |
| F/K | 0.9926 | likely_pathogenic | 0.9916 | pathogenic | -1.897 | Destabilizing | None | None | None | None | None | None | None | None | N |
| F/L | 0.982 | likely_pathogenic | 0.9771 | pathogenic | -1.413 | Destabilizing | None | None | None | None | N | 0.426099863 | None | None | N |
| F/M | 0.9388 | likely_pathogenic | 0.9301 | pathogenic | -1.007 | Destabilizing | None | None | None | None | None | None | None | None | N |
| F/N | 0.9791 | likely_pathogenic | 0.9827 | pathogenic | -2.282 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| F/P | 0.998 | likely_pathogenic | 0.9983 | pathogenic | -1.864 | Destabilizing | None | None | None | None | None | None | None | None | N |
| F/Q | 0.9858 | likely_pathogenic | 0.9866 | pathogenic | -2.294 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| F/R | 0.9811 | likely_pathogenic | 0.9807 | pathogenic | -1.322 | Destabilizing | None | None | None | None | None | None | None | None | N |
| F/S | 0.9673 | likely_pathogenic | 0.9716 | pathogenic | -2.897 | Highly Destabilizing | None | None | None | None | N | 0.473565736 | None | None | N |
| F/T | 0.974 | likely_pathogenic | 0.9763 | pathogenic | -2.62 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| F/V | 0.8618 | likely_pathogenic | 0.8623 | pathogenic | -1.864 | Destabilizing | None | None | None | None | N | 0.421784548 | None | None | N |
| F/W | 0.8939 | likely_pathogenic | 0.8952 | pathogenic | -0.396 | Destabilizing | None | None | None | None | None | None | None | None | N |
| F/Y | 0.432 | ambiguous | 0.5047 | ambiguous | -0.734 | Destabilizing | None | None | None | None | N | 0.465196969 | 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.