Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33821 | 101686;101687;101688 | chr2:178535154;178535153;178535152 | chr2:179399881;179399880;179399879 |
| N2AB | 32180 | 96763;96764;96765 | chr2:178535154;178535153;178535152 | chr2:179399881;179399880;179399879 |
| N2A | 31253 | 93982;93983;93984 | chr2:178535154;178535153;178535152 | chr2:179399881;179399880;179399879 |
| N2B | 24756 | 74491;74492;74493 | chr2:178535154;178535153;178535152 | chr2:179399881;179399880;179399879 |
| Novex-1 | 24881 | 74866;74867;74868 | chr2:178535154;178535153;178535152 | chr2:179399881;179399880;179399879 |
| Novex-2 | 24948 | 75067;75068;75069 | chr2:178535154;178535153;178535152 | chr2:179399881;179399880;179399879 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
- RefSeq wild type amino acid: I
- RefSeq wild type transcript codon: ATT
- RefSeq wild type template codon: TAA
- Domain: Kinase-1
- Domain position: 9
- Q(SASA): 0.2739
- 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/L | None | None | None | N | None | 0.312 | 0.417460480802 | gnomAD-4.0.0 | 3.60097E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.9375E-06 | 0 | 0 |
| I/T | None | None | None | N | None | 0.539 | 0.596594413468 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/A | 0.8235 | likely_pathogenic | 0.8359 | pathogenic | -2.439 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| I/C | 0.9643 | likely_pathogenic | 0.969 | pathogenic | -1.411 | Destabilizing | None | None | None | None | None | None | None | None | N |
| I/D | 0.9863 | likely_pathogenic | 0.9858 | pathogenic | -2.347 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| I/E | 0.9624 | likely_pathogenic | 0.9571 | pathogenic | -2.201 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| I/F | 0.5309 | ambiguous | 0.5562 | ambiguous | -1.598 | Destabilizing | None | None | None | None | N | 0.408726745 | None | None | N |
| I/G | 0.977 | likely_pathogenic | 0.9801 | pathogenic | -2.909 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| I/H | 0.9677 | likely_pathogenic | 0.9649 | pathogenic | -2.2 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| I/K | 0.9348 | likely_pathogenic | 0.9157 | pathogenic | -1.775 | Destabilizing | None | None | None | None | None | None | None | None | N |
| I/L | 0.2907 | likely_benign | 0.314 | benign | -1.116 | Destabilizing | None | None | None | None | N | 0.388367329 | None | None | N |
| I/M | 0.2932 | likely_benign | 0.3083 | benign | -0.801 | Destabilizing | None | None | None | None | N | 0.477202609 | None | None | N |
| I/N | 0.9171 | likely_pathogenic | 0.9108 | pathogenic | -1.819 | Destabilizing | None | None | None | None | N | 0.516971718 | None | None | N |
| I/P | 0.9356 | likely_pathogenic | 0.9537 | pathogenic | -1.535 | Destabilizing | None | None | None | None | None | None | None | None | N |
| I/Q | 0.9497 | likely_pathogenic | 0.9388 | pathogenic | -1.824 | Destabilizing | None | None | None | None | None | None | None | None | N |
| I/R | 0.904 | likely_pathogenic | 0.8781 | pathogenic | -1.334 | Destabilizing | None | None | None | None | None | None | None | None | N |
| I/S | 0.9037 | likely_pathogenic | 0.9058 | pathogenic | -2.486 | Highly Destabilizing | None | None | None | None | N | 0.49794324 | None | None | N |
| I/T | 0.7633 | likely_pathogenic | 0.7622 | pathogenic | -2.203 | Highly Destabilizing | None | None | None | None | N | 0.486822169 | None | None | N |
| I/V | 0.1539 | likely_benign | 0.1663 | benign | -1.535 | Destabilizing | None | None | None | None | N | 0.429966022 | None | None | N |
| I/W | 0.9705 | likely_pathogenic | 0.9736 | pathogenic | -1.859 | Destabilizing | None | None | None | None | None | None | None | None | N |
| I/Y | 0.9156 | likely_pathogenic | 0.9117 | pathogenic | -1.612 | 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.