Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33834 | 101725;101726;101727 | chr2:178535115;178535114;178535113 | chr2:179399842;179399841;179399840 |
| N2AB | 32193 | 96802;96803;96804 | chr2:178535115;178535114;178535113 | chr2:179399842;179399841;179399840 |
| N2A | 31266 | 94021;94022;94023 | chr2:178535115;178535114;178535113 | chr2:179399842;179399841;179399840 |
| N2B | 24769 | 74530;74531;74532 | chr2:178535115;178535114;178535113 | chr2:179399842;179399841;179399840 |
| Novex-1 | 24894 | 74905;74906;74907 | chr2:178535115;178535114;178535113 | chr2:179399842;179399841;179399840 |
| Novex-2 | 24961 | 75106;75107;75108 | chr2:178535115;178535114;178535113 | chr2:179399842;179399841;179399840 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
- RefSeq wild type amino acid: H
- RefSeq wild type transcript codon: CAT
- RefSeq wild type template codon: GTA
- Domain: Kinase-1
- Domain position: 22
- Q(SASA): 0.1726
- 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| H/R | None | None | None | N | None | 0.475 | 0.168933306366 | gnomAD-4.0.0 | 2.05261E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.69824E-06 | 0 | 0 |
| H/Y | rs534907370  |
0.56 | None | N | None | 0.422 | 0.207176502487 | gnomAD-2.1.1 | 8.05E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 6.54E-05 | None | 0 | 0 | 0 |
| H/Y | rs534907370 |
0.56 | None | N | None | 0.422 | 0.207176502487 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 2.07641E-04 | 0 |
| H/Y | rs534907370 |
0.56 | None | N | None | 0.422 | 0.207176502487 | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 0 | 0 | None | None | None | 1E-03 | None |
| H/Y | rs534907370 |
0.56 | None | N | None | 0.422 | 0.207176502487 | gnomAD-4.0.0 | 6.81644E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 8.78484E-05 | 4.80108E-05 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| H/A | 0.9679 | likely_pathogenic | 0.9445 | pathogenic | -1.677 | Destabilizing | None | None | None | None | None | None | None | None | N |
| H/C | 0.6868 | likely_pathogenic | 0.6447 | pathogenic | -0.938 | Destabilizing | None | None | None | None | None | None | None | None | N |
| H/D | 0.975 | likely_pathogenic | 0.955 | pathogenic | -1.523 | Destabilizing | None | None | None | None | N | 0.478642616 | None | None | N |
| H/E | 0.974 | likely_pathogenic | 0.9539 | pathogenic | -1.349 | Destabilizing | None | None | None | None | None | None | None | None | N |
| H/F | 0.8504 | likely_pathogenic | 0.8024 | pathogenic | 0.106 | Stabilizing | None | None | None | None | None | None | None | None | N |
| H/G | 0.975 | likely_pathogenic | 0.9537 | pathogenic | -2.082 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| H/I | 0.9709 | likely_pathogenic | 0.9537 | pathogenic | -0.489 | Destabilizing | None | None | None | None | None | None | None | None | N |
| H/K | 0.9525 | likely_pathogenic | 0.9132 | pathogenic | -1.261 | Destabilizing | None | None | None | None | None | None | None | None | N |
| H/L | 0.7696 | likely_pathogenic | 0.7007 | pathogenic | -0.489 | Destabilizing | None | None | None | None | N | 0.397448172 | None | None | N |
| H/M | 0.9655 | likely_pathogenic | 0.9515 | pathogenic | -0.683 | Destabilizing | None | None | None | None | None | None | None | None | N |
| H/N | 0.8359 | likely_pathogenic | 0.7486 | pathogenic | -1.706 | Destabilizing | None | None | None | None | N | 0.452072091 | None | None | N |
| H/P | 0.976 | likely_pathogenic | 0.9519 | pathogenic | -0.873 | Destabilizing | None | None | None | None | N | 0.50827209 | None | None | N |
| H/Q | 0.9043 | likely_pathogenic | 0.8508 | pathogenic | -1.298 | Destabilizing | None | None | None | None | N | 0.448935785 | None | None | N |
| H/R | 0.8669 | likely_pathogenic | 0.7665 | pathogenic | -1.557 | Destabilizing | None | None | None | None | N | 0.353062676 | None | None | N |
| H/S | 0.9173 | likely_pathogenic | 0.8684 | pathogenic | -1.833 | Destabilizing | None | None | None | None | None | None | None | None | N |
| H/T | 0.9758 | likely_pathogenic | 0.9544 | pathogenic | -1.549 | Destabilizing | None | None | None | None | None | None | None | None | N |
| H/V | 0.9564 | likely_pathogenic | 0.9321 | pathogenic | -0.873 | Destabilizing | None | None | None | None | None | None | None | None | N |
| H/W | 0.8482 | likely_pathogenic | 0.8112 | pathogenic | 0.553 | Stabilizing | None | None | None | None | None | None | None | None | N |
| H/Y | 0.5376 | ambiguous | 0.4576 | ambiguous | 0.432 | Stabilizing | None | None | None | None | N | 0.360212361 | 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.