Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33864 | 101815;101816;101817 | chr2:178535025;178535024;178535023 | chr2:179399752;179399751;179399750 |
| N2AB | 32223 | 96892;96893;96894 | chr2:178535025;178535024;178535023 | chr2:179399752;179399751;179399750 |
| N2A | 31296 | 94111;94112;94113 | chr2:178535025;178535024;178535023 | chr2:179399752;179399751;179399750 |
| N2B | 24799 | 74620;74621;74622 | chr2:178535025;178535024;178535023 | chr2:179399752;179399751;179399750 |
| Novex-1 | 24924 | 74995;74996;74997 | chr2:178535025;178535024;178535023 | chr2:179399752;179399751;179399750 |
| Novex-2 | 24991 | 75196;75197;75198 | chr2:178535025;178535024;178535023 | chr2:179399752;179399751;179399750 |
| 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: 52
- Q(SASA): 0.1557
- 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/V | None | None | None | N | None | 0.287 | 0.643923697742 | gnomAD-4.0.0 | 2.0526E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.69827E-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 | 0.9128 | likely_pathogenic | 0.9257 | pathogenic | -2.254 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| I/C | 0.9611 | likely_pathogenic | 0.9647 | pathogenic | -1.473 | Destabilizing | None | None | None | None | None | None | None | None | N |
| I/D | 0.9901 | likely_pathogenic | 0.9907 | pathogenic | -1.84 | Destabilizing | None | None | None | None | None | None | None | None | N |
| I/E | 0.9659 | likely_pathogenic | 0.97 | pathogenic | -1.773 | Destabilizing | None | None | None | None | None | None | None | None | N |
| I/F | 0.6824 | likely_pathogenic | 0.6445 | pathogenic | -1.648 | Destabilizing | None | None | None | None | D | 0.522439906 | None | None | N |
| I/G | 0.9847 | likely_pathogenic | 0.988 | pathogenic | -2.667 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| I/H | 0.9751 | likely_pathogenic | 0.9755 | pathogenic | -1.925 | Destabilizing | None | None | None | None | None | None | None | None | N |
| I/K | 0.9282 | likely_pathogenic | 0.9377 | pathogenic | -1.668 | Destabilizing | None | None | None | None | None | None | None | None | N |
| I/L | 0.3757 | ambiguous | 0.3843 | ambiguous | -1.138 | Destabilizing | None | None | None | None | N | 0.490265985 | None | None | N |
| I/M | 0.2891 | likely_benign | 0.3123 | benign | -0.797 | Destabilizing | None | None | None | None | D | 0.522343905 | None | None | N |
| I/N | 0.8812 | likely_pathogenic | 0.8958 | pathogenic | -1.592 | Destabilizing | None | None | None | None | N | 0.507359118 | None | None | N |
| I/P | 0.9957 | likely_pathogenic | 0.9959 | pathogenic | -1.483 | Destabilizing | None | None | None | None | None | None | None | None | N |
| I/Q | 0.9462 | likely_pathogenic | 0.9521 | pathogenic | -1.69 | Destabilizing | None | None | None | None | None | None | None | None | N |
| I/R | 0.9079 | likely_pathogenic | 0.9199 | pathogenic | -1.088 | Destabilizing | None | None | None | None | None | None | None | None | N |
| I/S | 0.9231 | likely_pathogenic | 0.9342 | pathogenic | -2.288 | Highly Destabilizing | None | None | None | None | N | 0.495242344 | None | None | N |
| I/T | 0.8782 | likely_pathogenic | 0.8972 | pathogenic | -2.088 | Highly Destabilizing | None | None | None | None | N | 0.490469404 | None | None | N |
| I/V | 0.238 | likely_benign | 0.2625 | benign | -1.483 | Destabilizing | None | None | None | None | N | 0.467314555 | None | None | N |
| I/W | 0.9833 | likely_pathogenic | 0.9828 | pathogenic | -1.81 | Destabilizing | None | None | None | None | None | None | None | None | N |
| I/Y | 0.9192 | likely_pathogenic | 0.9065 | pathogenic | -1.588 | 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.