Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 34135 | 102628;102629;102630 | chr2:178534212;178534211;178534210 | chr2:179398939;179398938;179398937 |
| N2AB | 32494 | 97705;97706;97707 | chr2:178534212;178534211;178534210 | chr2:179398939;179398938;179398937 |
| N2A | 31567 | 94924;94925;94926 | chr2:178534212;178534211;178534210 | chr2:179398939;179398938;179398937 |
| N2B | 25070 | 75433;75434;75435 | chr2:178534212;178534211;178534210 | chr2:179398939;179398938;179398937 |
| Novex-1 | 25195 | 75808;75809;75810 | chr2:178534212;178534211;178534210 | chr2:179398939;179398938;179398937 |
| Novex-2 | 25262 | 76009;76010;76011 | chr2:178534212;178534211;178534210 | chr2:179398939;179398938;179398937 |
| 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: 323
- Q(SASA): None
- 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 | rs917268577  |
None | None | N | None | 0.278 | 0.519241965532 | gnomAD-4.0.0 | 2.7366E-06 | None | None | None | None | N | None | 0 | 2.23614E-05 | None | 0 | 0 | None | 0 | 1.7337E-04 | 1.79882E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/A | 0.2319 | likely_benign | 0.2765 | benign | -0.554 | Destabilizing | None | None | None | None | None | None | None | None | N |
| I/C | 0.7969 | likely_pathogenic | 0.7767 | pathogenic | -0.93 | Destabilizing | None | None | None | None | None | None | None | None | N |
| I/D | 0.5832 | likely_pathogenic | 0.5918 | pathogenic | -0.413 | Destabilizing | None | None | None | None | None | None | None | None | N |
| I/E | 0.4266 | ambiguous | 0.4571 | ambiguous | -0.505 | Destabilizing | None | None | None | None | None | None | None | None | N |
| I/F | 0.1953 | likely_benign | 0.214 | benign | -0.825 | Destabilizing | None | None | None | None | N | 0.426849225 | None | None | N |
| I/G | 0.6338 | likely_pathogenic | 0.6771 | pathogenic | -0.607 | Destabilizing | None | None | None | None | None | None | None | None | N |
| I/H | 0.4941 | ambiguous | 0.5005 | ambiguous | -0.071 | Destabilizing | None | None | None | None | None | None | None | None | N |
| I/K | 0.3008 | likely_benign | 0.3156 | benign | -0.479 | Destabilizing | None | None | None | None | None | None | None | None | N |
| I/L | 0.1579 | likely_benign | 0.1706 | benign | -0.52 | Destabilizing | None | None | None | None | N | 0.424942283 | None | None | N |
| I/M | 0.106 | likely_benign | 0.1197 | benign | -0.812 | Destabilizing | None | None | None | None | N | 0.426502508 | None | None | N |
| I/N | 0.2235 | likely_benign | 0.2258 | benign | -0.34 | Destabilizing | None | None | None | None | N | 0.408436822 | None | None | N |
| I/P | 0.6006 | likely_pathogenic | 0.7039 | pathogenic | -0.509 | Destabilizing | None | None | None | None | None | None | None | None | N |
| I/Q | 0.3904 | ambiguous | 0.4342 | ambiguous | -0.503 | Destabilizing | None | None | None | None | None | None | None | None | N |
| I/R | 0.2445 | likely_benign | 0.2702 | benign | -0.07 | Destabilizing | None | None | None | None | None | None | None | None | N |
| I/S | 0.2321 | likely_benign | 0.268 | benign | -0.682 | Destabilizing | None | None | None | None | N | 0.426155792 | None | None | N |
| I/T | 0.112 | likely_benign | 0.1448 | benign | -0.688 | Destabilizing | None | None | None | None | N | 0.42632915 | None | None | N |
| I/V | 0.0984 | likely_benign | 0.115 | benign | -0.509 | Destabilizing | None | None | None | None | N | 0.425462358 | None | None | N |
| I/W | 0.7555 | likely_pathogenic | 0.8133 | pathogenic | -0.827 | Destabilizing | None | None | None | None | None | None | None | None | N |
| I/Y | 0.5055 | ambiguous | 0.4778 | ambiguous | -0.627 | 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.