Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 34108 | 102547;102548;102549 | chr2:178534293;178534292;178534291 | chr2:179399020;179399019;179399018 |
| N2AB | 32467 | 97624;97625;97626 | chr2:178534293;178534292;178534291 | chr2:179399020;179399019;179399018 |
| N2A | 31540 | 94843;94844;94845 | chr2:178534293;178534292;178534291 | chr2:179399020;179399019;179399018 |
| N2B | 25043 | 75352;75353;75354 | chr2:178534293;178534292;178534291 | chr2:179399020;179399019;179399018 |
| Novex-1 | 25168 | 75727;75728;75729 | chr2:178534293;178534292;178534291 | chr2:179399020;179399019;179399018 |
| Novex-2 | 25235 | 75928;75929;75930 | chr2:178534293;178534292;178534291 | chr2:179399020;179399019;179399018 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
- RefSeq wild type amino acid: A
- RefSeq wild type transcript codon: GCA
- RefSeq wild type template codon: CGT
- Domain: Kinase-1
- Domain position: 296
- Q(SASA): 0.1154
- 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/P | None | None | None | N | None | 0.263 | 0.57347888143 | gnomAD-4.0.0 | 1.36845E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99426E-07 | 1.15931E-05 | 0 |
| A/T | None | None | None | N | None | 0.103 | 0.446715556694 | gnomAD-4.0.0 | 1.36845E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.51927E-05 | None | 0 | 0 | 0 | 0 | 1.65645E-05 |
| A/V | None | None | None | N | None | 0.111 | 0.42538462244 | gnomAD-4.0.0 | 6.84224E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99426E-07 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.6891 | likely_pathogenic | 0.6776 | pathogenic | -1.023 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/D | 0.9151 | likely_pathogenic | 0.8964 | pathogenic | -1.557 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/E | 0.8506 | likely_pathogenic | 0.8099 | pathogenic | -1.416 | Destabilizing | None | None | None | None | N | 0.456998774 | None | None | N |
| A/F | 0.8339 | likely_pathogenic | 0.7745 | pathogenic | -0.636 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/G | 0.3628 | ambiguous | 0.3696 | ambiguous | -1.428 | Destabilizing | None | None | None | None | N | 0.457692207 | None | None | N |
| A/H | 0.9076 | likely_pathogenic | 0.8767 | pathogenic | -1.666 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/I | 0.6683 | likely_pathogenic | 0.6533 | pathogenic | 0.171 | Stabilizing | None | None | None | None | None | None | None | None | N |
| A/K | 0.945 | likely_pathogenic | 0.9171 | pathogenic | -1.235 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/L | 0.546 | ambiguous | 0.4872 | ambiguous | 0.171 | Stabilizing | None | None | None | None | None | None | None | None | N |
| A/M | 0.6181 | likely_pathogenic | 0.5746 | pathogenic | -0.003 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/N | 0.7858 | likely_pathogenic | 0.7761 | pathogenic | -1.327 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/P | 0.7869 | likely_pathogenic | 0.7549 | pathogenic | -0.167 | Destabilizing | None | None | None | None | N | 0.457865565 | None | None | N |
| A/Q | 0.8245 | likely_pathogenic | 0.7827 | pathogenic | -1.214 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/R | 0.8903 | likely_pathogenic | 0.839 | pathogenic | -1.201 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/S | 0.1489 | likely_benign | 0.1646 | benign | -1.82 | Destabilizing | None | None | None | None | N | 0.45630534 | None | None | N |
| A/T | 0.223 | likely_benign | 0.2283 | benign | -1.543 | Destabilizing | None | None | None | None | N | 0.457172132 | None | None | N |
| A/V | 0.327 | likely_benign | 0.3058 | benign | -0.167 | Destabilizing | None | None | None | None | N | 0.456825415 | None | None | N |
| A/W | 0.9757 | likely_pathogenic | 0.9665 | pathogenic | -1.251 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/Y | 0.9129 | likely_pathogenic | 0.8876 | pathogenic | -0.708 | 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.