Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33946 | 102061;102062;102063 | chr2:178534779;178534778;178534777 | chr2:179399506;179399505;179399504 |
| N2AB | 32305 | 97138;97139;97140 | chr2:178534779;178534778;178534777 | chr2:179399506;179399505;179399504 |
| N2A | 31378 | 94357;94358;94359 | chr2:178534779;178534778;178534777 | chr2:179399506;179399505;179399504 |
| N2B | 24881 | 74866;74867;74868 | chr2:178534779;178534778;178534777 | chr2:179399506;179399505;179399504 |
| Novex-1 | 25006 | 75241;75242;75243 | chr2:178534779;178534778;178534777 | chr2:179399506;179399505;179399504 |
| Novex-2 | 25073 | 75442;75443;75444 | chr2:178534779;178534778;178534777 | chr2:179399506;179399505;179399504 |
| 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: 134
- Q(SASA): 0.0676
- 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/T | rs1559041085  |
None | None | D | None | 0.505 | 0.777264642105 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 6.33473E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 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 | 0.8134 | likely_pathogenic | 0.8449 | pathogenic | -2.975 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| I/C | 0.888 | likely_pathogenic | 0.8918 | pathogenic | -2.441 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| I/D | 0.9853 | likely_pathogenic | 0.9844 | pathogenic | -3.296 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| I/E | 0.9565 | likely_pathogenic | 0.9593 | pathogenic | -3.057 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| I/F | 0.595 | likely_pathogenic | 0.6195 | pathogenic | -1.69 | Destabilizing | None | None | None | None | N | 0.453478466 | None | None | N |
| I/G | 0.9713 | likely_pathogenic | 0.9757 | pathogenic | -3.466 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| I/H | 0.926 | likely_pathogenic | 0.9319 | pathogenic | -2.677 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| I/K | 0.914 | likely_pathogenic | 0.9177 | pathogenic | -2.073 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| I/L | 0.2936 | likely_benign | 0.3199 | benign | -1.523 | Destabilizing | None | None | None | None | N | 0.357044344 | None | None | N |
| I/M | 0.3568 | ambiguous | 0.3845 | ambiguous | -1.837 | Destabilizing | None | None | None | None | N | 0.407591461 | None | None | N |
| I/N | 0.839 | likely_pathogenic | 0.8334 | pathogenic | -2.501 | Highly Destabilizing | None | None | None | None | N | 0.488984466 | None | None | N |
| I/P | 0.9894 | likely_pathogenic | 0.9899 | pathogenic | -1.995 | Destabilizing | None | None | None | None | None | None | None | None | N |
| I/Q | 0.9029 | likely_pathogenic | 0.9123 | pathogenic | -2.353 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| I/R | 0.8388 | likely_pathogenic | 0.8368 | pathogenic | -1.822 | Destabilizing | None | None | None | None | None | None | None | None | N |
| I/S | 0.7804 | likely_pathogenic | 0.7926 | pathogenic | -3.134 | Highly Destabilizing | None | None | None | None | N | 0.488730976 | None | None | N |
| I/T | 0.6175 | likely_pathogenic | 0.6553 | pathogenic | -2.762 | Highly Destabilizing | None | None | None | None | D | 0.528901731 | None | None | N |
| I/V | 0.1439 | likely_benign | 0.1708 | benign | -1.995 | Destabilizing | None | None | None | None | N | 0.418251171 | None | None | N |
| I/W | 0.9831 | likely_pathogenic | 0.9846 | pathogenic | -1.9 | Destabilizing | None | None | None | None | None | None | None | None | N |
| I/Y | 0.885 | likely_pathogenic | 0.8902 | pathogenic | -1.782 | 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.