Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 34027 | 102304;102305;102306 | chr2:178534536;178534535;178534534 | chr2:179399263;179399262;179399261 |
| N2AB | 32386 | 97381;97382;97383 | chr2:178534536;178534535;178534534 | chr2:179399263;179399262;179399261 |
| N2A | 31459 | 94600;94601;94602 | chr2:178534536;178534535;178534534 | chr2:179399263;179399262;179399261 |
| N2B | 24962 | 75109;75110;75111 | chr2:178534536;178534535;178534534 | chr2:179399263;179399262;179399261 |
| Novex-1 | 25087 | 75484;75485;75486 | chr2:178534536;178534535;178534534 | chr2:179399263;179399262;179399261 |
| Novex-2 | 25154 | 75685;75686;75687 | chr2:178534536;178534535;178534534 | chr2:179399263;179399262;179399261 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
- RefSeq wild type amino acid: I
- RefSeq wild type transcript codon: ATC
- RefSeq wild type template codon: TAG
- Domain: Kinase-1
- Domain position: 215
- Q(SASA): 0.0414
- 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 | rs1690594509  |
None | None | N | None | 0.221 | 0.635465298753 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| I/V | rs1690594509 |
None | None | N | None | 0.221 | 0.635465298753 | gnomAD-4.0.0 | 6.56935E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.46998E-05 | 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 | 0.9185 | likely_pathogenic | 0.8933 | pathogenic | -2.855 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| I/C | 0.9661 | likely_pathogenic | 0.9596 | pathogenic | -2.167 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| I/D | 0.9958 | likely_pathogenic | 0.9944 | pathogenic | -3.216 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| I/E | 0.9842 | likely_pathogenic | 0.9794 | pathogenic | -2.962 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| I/F | 0.8574 | likely_pathogenic | 0.8041 | pathogenic | -1.335 | Destabilizing | None | None | None | None | N | 0.490999841 | None | None | N |
| I/G | 0.9927 | likely_pathogenic | 0.989 | pathogenic | -3.332 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| I/H | 0.9866 | likely_pathogenic | 0.9821 | pathogenic | -2.776 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| I/K | 0.9671 | likely_pathogenic | 0.9549 | pathogenic | -2.036 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| I/L | 0.4314 | ambiguous | 0.3847 | ambiguous | -1.407 | Destabilizing | None | None | None | None | N | 0.471183612 | None | None | N |
| I/M | 0.3919 | ambiguous | 0.3531 | ambiguous | -1.659 | Destabilizing | None | None | None | None | N | 0.48737899 | None | None | N |
| I/N | 0.9426 | likely_pathogenic | 0.9257 | pathogenic | -2.55 | Highly Destabilizing | None | None | None | None | N | 0.489696395 | None | None | N |
| I/P | 0.9976 | likely_pathogenic | 0.9971 | pathogenic | -1.884 | Destabilizing | None | None | None | None | None | None | None | None | N |
| I/Q | 0.9733 | likely_pathogenic | 0.9666 | pathogenic | -2.266 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| I/R | 0.9473 | likely_pathogenic | 0.9245 | pathogenic | -1.946 | Destabilizing | None | None | None | None | None | None | None | None | N |
| I/S | 0.9355 | likely_pathogenic | 0.9177 | pathogenic | -3.058 | Highly Destabilizing | None | None | None | None | N | 0.496026271 | None | None | N |
| I/T | 0.8802 | likely_pathogenic | 0.8504 | pathogenic | -2.688 | Highly Destabilizing | None | None | None | None | N | 0.48152964 | None | None | N |
| I/V | 0.2338 | likely_benign | 0.2226 | benign | -1.884 | Destabilizing | None | None | None | None | N | 0.485862164 | None | None | N |
| I/W | 0.9949 | likely_pathogenic | 0.993 | pathogenic | -1.709 | Destabilizing | None | None | None | None | None | None | None | None | N |
| I/Y | 0.9692 | likely_pathogenic | 0.9552 | pathogenic | -1.69 | 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.