Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33980 | 102163;102164;102165 | chr2:178534677;178534676;178534675 | chr2:179399404;179399403;179399402 |
| N2AB | 32339 | 97240;97241;97242 | chr2:178534677;178534676;178534675 | chr2:179399404;179399403;179399402 |
| N2A | 31412 | 94459;94460;94461 | chr2:178534677;178534676;178534675 | chr2:179399404;179399403;179399402 |
| N2B | 24915 | 74968;74969;74970 | chr2:178534677;178534676;178534675 | chr2:179399404;179399403;179399402 |
| Novex-1 | 25040 | 75343;75344;75345 | chr2:178534677;178534676;178534675 | chr2:179399404;179399403;179399402 |
| Novex-2 | 25107 | 75544;75545;75546 | chr2:178534677;178534676;178534675 | chr2:179399404;179399403;179399402 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
- RefSeq wild type amino acid: E
- RefSeq wild type transcript codon: GAA
- RefSeq wild type template codon: CTT
- Domain: Kinase-1
- Domain position: 168
- Q(SASA): 0.0709
- 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/D | rs2154136129  |
None | None | N | None | 0.307 | 0.360565625551 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 4.78469E-04 |
| E/D | rs2154136129 |
None | None | N | None | 0.307 | 0.360565625551 | gnomAD-4.0.0 | 6.56538E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 4.73485E-04 |
| E/G | rs1559040103 |
None | None | N | None | 0.556 | 0.4744847356 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.88E-06 | 0 |
| E/G | rs1559040103 |
None | None | N | None | 0.556 | 0.4744847356 | gnomAD-4.0.0 | 1.59129E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 2.41313E-04 | 0 | 0 | 0 |
| E/K | None | None | None | N | None | 0.517 | 0.462635795511 | gnomAD-4.0.0 | 6.84228E-07 | None | None | None | None | N | None | 2.98811E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| E/Q | None | None | None | N | None | 0.423 | 0.388334884743 | gnomAD-4.0.0 | 2.05268E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.69844E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/A | 0.6288 | likely_pathogenic | 0.568 | pathogenic | 1.341 | Stabilizing | None | None | None | None | N | 0.475934038 | None | None | N |
| E/C | 0.9767 | likely_pathogenic | 0.9733 | pathogenic | 0.958 | Stabilizing | None | None | None | None | None | None | None | None | N |
| E/D | 0.6361 | likely_pathogenic | 0.6239 | pathogenic | -1.789 | Destabilizing | None | None | None | None | N | 0.475221962 | None | None | N |
| E/F | 0.9841 | likely_pathogenic | 0.9763 | pathogenic | 1.613 | Stabilizing | None | None | None | None | None | None | None | None | N |
| E/G | 0.7166 | likely_pathogenic | 0.6829 | pathogenic | 0.89 | Stabilizing | None | None | None | None | N | 0.487228467 | None | None | N |
| E/H | 0.946 | likely_pathogenic | 0.9317 | pathogenic | 1.229 | Stabilizing | None | None | None | None | None | None | None | None | N |
| E/I | 0.9131 | likely_pathogenic | 0.8798 | pathogenic | 2.576 | Highly Stabilizing | None | None | None | None | None | None | None | None | N |
| E/K | 0.8059 | likely_pathogenic | 0.758 | pathogenic | 0.559 | Stabilizing | None | None | None | None | N | 0.499251134 | None | None | N |
| E/L | 0.9438 | likely_pathogenic | 0.9169 | pathogenic | 2.576 | Highly Stabilizing | None | None | None | None | None | None | None | None | N |
| E/M | 0.9427 | likely_pathogenic | 0.9242 | pathogenic | 2.722 | Highly Stabilizing | None | None | None | None | None | None | None | None | N |
| E/N | 0.8951 | likely_pathogenic | 0.8725 | pathogenic | -0.246 | Destabilizing | None | None | None | None | None | None | None | None | N |
| E/P | 0.9397 | likely_pathogenic | 0.9204 | pathogenic | 2.19 | Highly Stabilizing | None | None | None | None | None | None | None | None | N |
| E/Q | 0.5974 | likely_pathogenic | 0.5512 | ambiguous | 0.214 | Stabilizing | None | None | None | None | N | 0.489209979 | None | None | N |
| E/R | 0.8535 | likely_pathogenic | 0.8103 | pathogenic | 0.183 | Stabilizing | None | None | None | None | None | None | None | None | N |
| E/S | 0.7564 | likely_pathogenic | 0.7079 | pathogenic | -0.451 | Destabilizing | None | None | None | None | None | None | None | None | N |
| E/T | 0.8533 | likely_pathogenic | 0.823 | pathogenic | -0.016 | Destabilizing | None | None | None | None | None | None | None | None | N |
| E/V | 0.8239 | likely_pathogenic | 0.7777 | pathogenic | 2.19 | Highly Stabilizing | None | None | None | None | N | 0.484149074 | None | None | N |
| E/W | 0.9943 | likely_pathogenic | 0.9924 | pathogenic | 1.1 | Stabilizing | None | None | None | None | None | None | None | None | N |
| E/Y | 0.9678 | likely_pathogenic | 0.9544 | pathogenic | 1.758 | Stabilizing | None | None | None | None | 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.