Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 34115 | 102568;102569;102570 | chr2:178534272;178534271;178534270 | chr2:179398999;179398998;179398997 |
| N2AB | 32474 | 97645;97646;97647 | chr2:178534272;178534271;178534270 | chr2:179398999;179398998;179398997 |
| N2A | 31547 | 94864;94865;94866 | chr2:178534272;178534271;178534270 | chr2:179398999;179398998;179398997 |
| N2B | 25050 | 75373;75374;75375 | chr2:178534272;178534271;178534270 | chr2:179398999;179398998;179398997 |
| Novex-1 | 25175 | 75748;75749;75750 | chr2:178534272;178534271;178534270 | chr2:179398999;179398998;179398997 |
| Novex-2 | 25242 | 75949;75950;75951 | chr2:178534272;178534271;178534270 | chr2:179398999;179398998;179398997 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
- RefSeq wild type amino acid: G
- RefSeq wild type transcript codon: GGT
- RefSeq wild type template codon: CCA
- Domain: Kinase-1
- Domain position: 303
- Q(SASA): 0.1248
- 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/R | None | None | None | N | None | 0.504 | 0.68520084859 | gnomAD-4.0.0 | 1.59105E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.77269E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.5492 | ambiguous | 0.5465 | ambiguous | -0.987 | Destabilizing | None | None | None | None | N | 0.458558999 | None | None | N |
| G/C | 0.8145 | likely_pathogenic | 0.7821 | pathogenic | -1.549 | Destabilizing | None | None | None | None | N | 0.460639298 | None | None | N |
| G/D | 0.9244 | likely_pathogenic | 0.8785 | pathogenic | -2.153 | Highly Destabilizing | None | None | None | None | N | 0.459772507 | None | None | N |
| G/E | 0.927 | likely_pathogenic | 0.885 | pathogenic | -2.16 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| G/F | 0.9655 | likely_pathogenic | 0.9486 | pathogenic | -1.268 | Destabilizing | None | None | None | None | None | None | None | None | N |
| G/H | 0.9652 | likely_pathogenic | 0.9483 | pathogenic | -1.498 | Destabilizing | None | None | None | None | None | None | None | None | N |
| G/I | 0.9125 | likely_pathogenic | 0.8699 | pathogenic | -0.468 | Destabilizing | None | None | None | None | None | None | None | None | N |
| G/K | 0.9646 | likely_pathogenic | 0.9423 | pathogenic | -1.49 | Destabilizing | None | None | None | None | None | None | None | None | N |
| G/L | 0.9418 | likely_pathogenic | 0.9205 | pathogenic | -0.468 | Destabilizing | None | None | None | None | None | None | None | None | N |
| G/M | 0.9477 | likely_pathogenic | 0.9251 | pathogenic | -0.5 | Destabilizing | None | None | None | None | None | None | None | None | N |
| G/N | 0.8953 | likely_pathogenic | 0.8686 | pathogenic | -1.426 | Destabilizing | None | None | None | None | None | None | None | None | N |
| G/P | 0.9889 | likely_pathogenic | 0.9808 | pathogenic | -0.601 | Destabilizing | None | None | None | None | None | None | None | None | N |
| G/Q | 0.9342 | likely_pathogenic | 0.915 | pathogenic | -1.604 | Destabilizing | None | None | None | None | None | None | None | None | N |
| G/R | 0.9299 | likely_pathogenic | 0.8914 | pathogenic | -1.141 | Destabilizing | None | None | None | None | N | 0.459772507 | None | None | N |
| G/S | 0.4581 | ambiguous | 0.4471 | ambiguous | -1.691 | Destabilizing | None | None | None | None | N | 0.458905715 | None | None | N |
| G/T | 0.7529 | likely_pathogenic | 0.7143 | pathogenic | -1.616 | Destabilizing | None | None | None | None | None | None | None | None | N |
| G/V | 0.838 | likely_pathogenic | 0.7846 | pathogenic | -0.601 | Destabilizing | None | None | None | None | N | 0.459772507 | None | None | N |
| G/W | 0.9462 | likely_pathogenic | 0.9072 | pathogenic | -1.655 | Destabilizing | None | None | None | None | None | None | None | None | N |
| G/Y | 0.9573 | likely_pathogenic | 0.9368 | pathogenic | -1.237 | 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.