Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 34064 | 102415;102416;102417 | chr2:178534425;178534424;178534423 | chr2:179399152;179399151;179399150 |
| N2AB | 32423 | 97492;97493;97494 | chr2:178534425;178534424;178534423 | chr2:179399152;179399151;179399150 |
| N2A | 31496 | 94711;94712;94713 | chr2:178534425;178534424;178534423 | chr2:179399152;179399151;179399150 |
| N2B | 24999 | 75220;75221;75222 | chr2:178534425;178534424;178534423 | chr2:179399152;179399151;179399150 |
| Novex-1 | 25124 | 75595;75596;75597 | chr2:178534425;178534424;178534423 | chr2:179399152;179399151;179399150 |
| Novex-2 | 25191 | 75796;75797;75798 | chr2:178534425;178534424;178534423 | chr2:179399152;179399151;179399150 |
| 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: 252
- Q(SASA): 0.0882
- 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/T | rs200237973  |
-1.689 | None | N | None | 0.494 | None | gnomAD-2.1.1 | 1.72057E-04 | None | None | None | None | N | None | 4.13E-05 | 1.69731E-04 | None | 0 | 0 | None | 0 | None | 0 | 3.04464E-04 | 2.81294E-04 |
| A/T | rs200237973 |
-1.689 | None | N | None | 0.494 | None | gnomAD-3.1.2 | 2.69343E-04 | None | None | None | None | N | None | 7.24E-05 | 1.96386E-04 | 3.28947E-03 | 0 | 0 | None | 0 | 0 | 4.55601E-04 | 0 | 4.78011E-04 |
| A/T | rs200237973 |
-1.689 | None | N | None | 0.494 | None | gnomAD-4.0.0 | 3.65373E-04 | None | None | None | None | N | None | 1.06769E-04 | 1.83346E-04 | None | 0 | 0 | None | 0 | 0 | 4.54308E-04 | 0 | 4.96381E-04 |
| A/V | rs149921607 |
-0.533 | None | N | None | 0.475 | None | gnomAD-2.1.1 | 6.37E-05 | None | None | None | None | N | None | 2.29516E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| A/V | rs149921607 |
-0.533 | None | N | None | 0.475 | None | gnomAD-3.1.2 | 4.6E-05 | None | None | None | None | N | None | 1.68886E-04 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| A/V | rs149921607 |
-0.533 | None | N | None | 0.475 | None | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 8E-04 | 0 | None | None | 0 | 0 | None | None | None | 0 | None |
| A/V | rs149921607 |
-0.533 | None | N | None | 0.475 | None | gnomAD-4.0.0 | 6.82341E-06 | None | None | None | None | N | None | 1.33269E-04 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 1.60067E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.8807 | likely_pathogenic | 0.8601 | pathogenic | -1.234 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/D | 0.9381 | likely_pathogenic | 0.9396 | pathogenic | -2.744 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| A/E | 0.8981 | likely_pathogenic | 0.892 | pathogenic | -2.686 | Highly Destabilizing | None | None | None | None | D | 0.523630175 | None | None | N |
| A/F | 0.8905 | likely_pathogenic | 0.8803 | pathogenic | -1.089 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/G | 0.5139 | ambiguous | 0.4993 | ambiguous | -1.524 | Destabilizing | None | None | None | None | N | 0.51202038 | None | None | N |
| A/H | 0.9556 | likely_pathogenic | 0.9549 | pathogenic | -1.859 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/I | 0.8134 | likely_pathogenic | 0.8155 | pathogenic | -0.35 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/K | 0.9682 | likely_pathogenic | 0.9629 | pathogenic | -1.521 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/L | 0.6766 | likely_pathogenic | 0.6862 | pathogenic | -0.35 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/M | 0.8422 | likely_pathogenic | 0.8307 | pathogenic | -0.219 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/N | 0.9227 | likely_pathogenic | 0.9223 | pathogenic | -1.577 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/P | 0.5228 | ambiguous | 0.5743 | pathogenic | -0.591 | Destabilizing | None | None | None | None | N | 0.487573023 | None | None | N |
| A/Q | 0.916 | likely_pathogenic | 0.9113 | pathogenic | -1.623 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/R | 0.9213 | likely_pathogenic | 0.9146 | pathogenic | -1.27 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/S | 0.2471 | likely_benign | 0.241 | benign | -1.821 | Destabilizing | None | None | None | None | N | 0.497016771 | None | None | N |
| A/T | 0.4631 | ambiguous | 0.4544 | ambiguous | -1.683 | Destabilizing | None | None | None | None | N | 0.496118171 | None | None | N |
| A/V | 0.519 | ambiguous | 0.5133 | ambiguous | -0.591 | Destabilizing | None | None | None | None | N | 0.497293532 | None | None | N |
| A/W | 0.9859 | likely_pathogenic | 0.9859 | pathogenic | -1.724 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/Y | 0.9424 | likely_pathogenic | 0.9426 | pathogenic | -1.303 | 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.