Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 34057 | 102394;102395;102396 | chr2:178534446;178534445;178534444 | chr2:179399173;179399172;179399171 |
| N2AB | 32416 | 97471;97472;97473 | chr2:178534446;178534445;178534444 | chr2:179399173;179399172;179399171 |
| N2A | 31489 | 94690;94691;94692 | chr2:178534446;178534445;178534444 | chr2:179399173;179399172;179399171 |
| N2B | 24992 | 75199;75200;75201 | chr2:178534446;178534445;178534444 | chr2:179399173;179399172;179399171 |
| Novex-1 | 25117 | 75574;75575;75576 | chr2:178534446;178534445;178534444 | chr2:179399173;179399172;179399171 |
| Novex-2 | 25184 | 75775;75776;75777 | chr2:178534446;178534445;178534444 | chr2:179399173;179399172;179399171 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
- RefSeq wild type amino acid: E
- RefSeq wild type transcript codon: GAG
- RefSeq wild type template codon: CTC
- Domain: Kinase-1
- Domain position: 245
- Q(SASA): 0.3153
- 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/A | rs1418716706  |
-0.516 | None | N | None | 0.288 | 0.306695030598 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.56E-05 | None | 0 | None | 0 | 0 | 0 |
| E/A | rs1418716706 |
-0.516 | None | N | None | 0.288 | 0.306695030598 | gnomAD-4.0.0 | 1.59332E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.77254E-05 | None | 0 | 0 | 0 | 0 | 0 |
| E/D | rs767376871 |
-0.36 | None | N | None | 0.046 | 0.0611884634855 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 6.46E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| E/D | rs767376871 |
-0.36 | None | N | None | 0.046 | 0.0611884634855 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| E/D | rs767376871 |
-0.36 | None | N | None | 0.046 | 0.0611884634855 | gnomAD-4.0.0 | 6.57004E-06 | None | None | None | None | N | None | 2.41173E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| E/K | rs1173824558 |
0.222 | None | N | None | 0.209 | 0.273070737957 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| E/K | rs1173824558 |
0.222 | None | N | None | 0.209 | 0.273070737957 | gnomAD-4.0.0 | 1.59339E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43287E-05 | 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 | 0.6305 | likely_pathogenic | 0.5209 | ambiguous | -0.517 | Destabilizing | None | None | None | None | N | 0.429851379 | None | None | N |
| E/C | 0.9797 | likely_pathogenic | 0.971 | pathogenic | -0.265 | Destabilizing | None | None | None | None | None | None | None | None | N |
| E/D | 0.3185 | likely_benign | 0.2429 | benign | -0.458 | Destabilizing | None | None | None | None | N | 0.338242366 | None | None | N |
| E/F | 0.9775 | likely_pathogenic | 0.9581 | pathogenic | -0.245 | Destabilizing | None | None | None | None | None | None | None | None | N |
| E/G | 0.4723 | ambiguous | 0.3802 | ambiguous | -0.743 | Destabilizing | None | None | None | None | N | 0.49988468 | None | None | N |
| E/H | 0.8935 | likely_pathogenic | 0.8308 | pathogenic | -0.024 | Destabilizing | None | None | None | None | None | None | None | None | N |
| E/I | 0.9173 | likely_pathogenic | 0.8746 | pathogenic | 0.055 | Stabilizing | None | None | None | None | None | None | None | None | N |
| E/K | 0.7003 | likely_pathogenic | 0.5433 | ambiguous | 0.063 | Stabilizing | None | None | None | None | N | 0.433641045 | None | None | N |
| E/L | 0.9135 | likely_pathogenic | 0.8613 | pathogenic | 0.055 | Stabilizing | None | None | None | None | None | None | None | None | N |
| E/M | 0.9278 | likely_pathogenic | 0.9022 | pathogenic | 0.123 | Stabilizing | None | None | None | None | None | None | None | None | N |
| E/N | 0.6504 | likely_pathogenic | 0.5553 | ambiguous | -0.32 | Destabilizing | None | None | None | None | None | None | None | None | N |
| E/P | 0.9121 | likely_pathogenic | 0.8618 | pathogenic | -0.115 | Destabilizing | None | None | None | None | None | None | None | None | N |
| E/Q | 0.4907 | ambiguous | 0.4174 | ambiguous | -0.263 | Destabilizing | None | None | None | None | N | 0.451842804 | None | None | N |
| E/R | 0.7706 | likely_pathogenic | 0.662 | pathogenic | 0.358 | Stabilizing | None | None | None | None | None | None | None | None | N |
| E/S | 0.6438 | likely_pathogenic | 0.5503 | ambiguous | -0.493 | Destabilizing | None | None | None | None | None | None | None | None | N |
| E/T | 0.741 | likely_pathogenic | 0.6535 | pathogenic | -0.308 | Destabilizing | None | None | None | None | None | None | None | None | N |
| E/V | 0.7943 | likely_pathogenic | 0.704 | pathogenic | -0.115 | Destabilizing | None | None | None | None | N | 0.466734899 | None | None | N |
| E/W | 0.9881 | likely_pathogenic | 0.9802 | pathogenic | -0.044 | Destabilizing | None | None | None | None | None | None | None | None | N |
| E/Y | 0.9288 | likely_pathogenic | 0.8814 | pathogenic | -0.002 | Destabilizing | 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.