Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33894 | 101905;101906;101907 | chr2:178534935;178534934;178534933 | chr2:179399662;179399661;179399660 |
| N2AB | 32253 | 96982;96983;96984 | chr2:178534935;178534934;178534933 | chr2:179399662;179399661;179399660 |
| N2A | 31326 | 94201;94202;94203 | chr2:178534935;178534934;178534933 | chr2:179399662;179399661;179399660 |
| N2B | 24829 | 74710;74711;74712 | chr2:178534935;178534934;178534933 | chr2:179399662;179399661;179399660 |
| Novex-1 | 24954 | 75085;75086;75087 | chr2:178534935;178534934;178534933 | chr2:179399662;179399661;179399660 |
| Novex-2 | 25021 | 75286;75287;75288 | chr2:178534935;178534934;178534933 | chr2:179399662;179399661;179399660 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
- RefSeq wild type amino acid: F
- RefSeq wild type transcript codon: TTT
- RefSeq wild type template codon: AAA
- Domain: Kinase-1
- Domain position: 82
- Q(SASA): 0.236
- Predicted PPI site: I
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/I | None | None | None | N | None | 0.486 | 0.543209242439 | gnomAD-4.0.0 | 2.40065E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.62502E-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 | 0.9869 | likely_pathogenic | 0.989 | pathogenic | -2.094 | Highly Destabilizing | None | None | None | None | None | None | None | None | I |
| F/C | 0.9522 | likely_pathogenic | 0.9635 | pathogenic | -1.214 | Destabilizing | None | None | None | None | N | 0.47208479 | None | None | I |
| F/D | 0.9941 | likely_pathogenic | 0.9941 | pathogenic | -1.025 | Destabilizing | None | None | None | None | None | None | None | None | I |
| F/E | 0.9951 | likely_pathogenic | 0.9956 | pathogenic | -0.911 | Destabilizing | None | None | None | None | None | None | None | None | I |
| F/G | 0.9925 | likely_pathogenic | 0.9934 | pathogenic | -2.442 | Highly Destabilizing | None | None | None | None | None | None | None | None | I |
| F/H | 0.9763 | likely_pathogenic | 0.9783 | pathogenic | -0.574 | Destabilizing | None | None | None | None | None | None | None | None | I |
| F/I | 0.9225 | likely_pathogenic | 0.9368 | pathogenic | -1.039 | Destabilizing | None | None | None | None | N | 0.471217999 | None | None | I |
| F/K | 0.9947 | likely_pathogenic | 0.9957 | pathogenic | -1.381 | Destabilizing | None | None | None | None | None | None | None | None | I |
| F/L | 0.9895 | likely_pathogenic | 0.9928 | pathogenic | -1.039 | Destabilizing | None | None | None | None | N | 0.353908038 | None | None | I |
| F/M | 0.9301 | likely_pathogenic | 0.9502 | pathogenic | -0.786 | Destabilizing | None | None | None | None | None | None | None | None | I |
| F/N | 0.9804 | likely_pathogenic | 0.9841 | pathogenic | -1.619 | Destabilizing | None | None | None | None | None | None | None | None | I |
| F/P | 0.9997 | likely_pathogenic | 0.9997 | pathogenic | -1.386 | Destabilizing | None | None | None | None | None | None | None | None | I |
| F/Q | 0.9933 | likely_pathogenic | 0.9949 | pathogenic | -1.623 | Destabilizing | None | None | None | None | None | None | None | None | I |
| F/R | 0.9901 | likely_pathogenic | 0.9923 | pathogenic | -0.76 | Destabilizing | None | None | None | None | None | None | None | None | I |
| F/S | 0.9884 | likely_pathogenic | 0.9896 | pathogenic | -2.379 | Highly Destabilizing | None | None | None | None | N | 0.490323834 | None | None | I |
| F/T | 0.9861 | likely_pathogenic | 0.9884 | pathogenic | -2.167 | Highly Destabilizing | None | None | None | None | None | None | None | None | I |
| F/V | 0.9205 | likely_pathogenic | 0.9337 | pathogenic | -1.386 | Destabilizing | None | None | None | None | N | 0.495999013 | None | None | I |
| F/W | 0.911 | likely_pathogenic | 0.908 | pathogenic | -0.169 | Destabilizing | None | None | None | None | None | None | None | None | I |
| F/Y | 0.5348 | ambiguous | 0.5458 | ambiguous | -0.437 | Destabilizing | None | None | None | None | N | 0.362178018 | 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.