Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33846 | 101761;101762;101763 | chr2:178535079;178535078;178535077 | chr2:179399806;179399805;179399804 |
| N2AB | 32205 | 96838;96839;96840 | chr2:178535079;178535078;178535077 | chr2:179399806;179399805;179399804 |
| N2A | 31278 | 94057;94058;94059 | chr2:178535079;178535078;178535077 | chr2:179399806;179399805;179399804 |
| N2B | 24781 | 74566;74567;74568 | chr2:178535079;178535078;178535077 | chr2:179399806;179399805;179399804 |
| Novex-1 | 24906 | 74941;74942;74943 | chr2:178535079;178535078;178535077 | chr2:179399806;179399805;179399804 |
| Novex-2 | 24973 | 75142;75143;75144 | chr2:178535079;178535078;178535077 | chr2:179399806;179399805;179399804 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
- RefSeq wild type amino acid: M
- RefSeq wild type transcript codon: ATG
- RefSeq wild type template codon: TAC
- Domain: Kinase-1
- Domain position: 34
- Q(SASA): 0.0785
- 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| M/I | rs1690830241  |
None | None | N | None | 0.151 | 0.279370189704 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.75482E-04 | None | 0 | 0 | 0 | 0 | 0 |
| M/V | rs565546848 |
-0.472 | None | N | None | 0.156 | 0.285698343383 | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | N | None | 0 | 5.79E-05 | None | 0 | 0 | None | 0 | None | 0 | 8.88E-06 | 0 |
| M/V | rs565546848 |
-0.472 | None | N | None | 0.156 | 0.285698343383 | gnomAD-3.1.2 | 2.63E-05 | None | None | None | None | N | None | 2.41E-05 | 6.55E-05 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
| M/V | rs565546848 |
-0.472 | None | N | None | 0.156 | 0.285698343383 | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 1.4E-03 | None | None | 0 | 0 | None | None | None | 0 | None |
| M/V | rs565546848 |
-0.472 | None | N | None | 0.156 | 0.285698343383 | gnomAD-4.0.0 | 8.05491E-06 | None | None | None | None | N | None | 1.33252E-05 | 4.9995E-05 | None | 0 | 0 | None | 0 | 0 | 7.62805E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| M/A | 0.7707 | likely_pathogenic | 0.73 | pathogenic | -1.729 | Destabilizing | None | None | None | None | None | None | None | None | N |
| M/C | 0.8796 | likely_pathogenic | 0.8578 | pathogenic | -2.419 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| M/D | 0.9936 | likely_pathogenic | 0.9906 | pathogenic | -2.179 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| M/E | 0.9452 | likely_pathogenic | 0.9153 | pathogenic | -1.901 | Destabilizing | None | None | None | None | None | None | None | None | N |
| M/F | 0.6042 | likely_pathogenic | 0.5758 | pathogenic | -0.278 | Destabilizing | None | None | None | None | None | None | None | None | N |
| M/G | 0.9566 | likely_pathogenic | 0.9488 | pathogenic | -2.22 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| M/H | 0.9389 | likely_pathogenic | 0.9069 | pathogenic | -2.121 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| M/I | 0.6379 | likely_pathogenic | 0.6526 | pathogenic | -0.292 | Destabilizing | None | None | None | None | N | 0.387385894 | None | None | N |
| M/K | 0.7828 | likely_pathogenic | 0.7176 | pathogenic | -1.289 | Destabilizing | None | None | None | None | N | 0.434659766 | None | None | N |
| M/L | 0.1701 | likely_benign | 0.2184 | benign | -0.292 | Destabilizing | None | None | None | None | N | 0.410897472 | None | None | N |
| M/N | 0.9548 | likely_pathogenic | 0.9436 | pathogenic | -1.892 | Destabilizing | None | None | None | None | None | None | None | None | N |
| M/P | 0.9943 | likely_pathogenic | 0.9957 | pathogenic | -0.757 | Destabilizing | None | None | None | None | None | None | None | None | N |
| M/Q | 0.7671 | likely_pathogenic | 0.6869 | pathogenic | -1.439 | Destabilizing | None | None | None | None | None | None | None | None | N |
| M/R | 0.7897 | likely_pathogenic | 0.7149 | pathogenic | -1.658 | Destabilizing | None | None | None | None | N | 0.437892072 | None | None | N |
| M/S | 0.8853 | likely_pathogenic | 0.8363 | pathogenic | -2.27 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| M/T | 0.7011 | likely_pathogenic | 0.6146 | pathogenic | -1.862 | Destabilizing | None | None | None | None | N | 0.440873662 | None | None | N |
| M/V | 0.198 | likely_benign | 0.2004 | benign | -0.757 | Destabilizing | None | None | None | None | N | 0.361428657 | None | None | N |
| M/W | 0.9308 | likely_pathogenic | 0.9252 | pathogenic | -0.712 | Destabilizing | None | None | None | None | None | None | None | None | N |
| M/Y | 0.9067 | likely_pathogenic | 0.8885 | pathogenic | -0.644 | 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.