Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 34067 | 102424;102425;102426 | chr2:178534416;178534415;178534414 | chr2:179399143;179399142;179399141 |
| N2AB | 32426 | 97501;97502;97503 | chr2:178534416;178534415;178534414 | chr2:179399143;179399142;179399141 |
| N2A | 31499 | 94720;94721;94722 | chr2:178534416;178534415;178534414 | chr2:179399143;179399142;179399141 |
| N2B | 25002 | 75229;75230;75231 | chr2:178534416;178534415;178534414 | chr2:179399143;179399142;179399141 |
| Novex-1 | 25127 | 75604;75605;75606 | chr2:178534416;178534415;178534414 | chr2:179399143;179399142;179399141 |
| Novex-2 | 25194 | 75805;75806;75807 | chr2:178534416;178534415;178534414 | chr2:179399143;179399142;179399141 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
- RefSeq wild type amino acid: A
- RefSeq wild type transcript codon: GCT
- RefSeq wild type template codon: CGA
- Domain: Kinase-1
- Domain position: 255
- Q(SASA): 0.0749
- 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/D | None | None | None | D | None | 0.613 | 0.820196971119 | gnomAD-4.0.0 | 2.74112E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.69837E-06 | 0 | 1.65684E-05 |
| A/G | rs769172246  |
None | None | N | None | 0.497 | 0.491248951702 | gnomAD-4.0.0 | 6.85278E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.15931E-05 | 0 |
| A/P | rs776959962 |
None | None | D | None | 0.548 | 0.606672344029 | gnomAD-4.0.0 | 1.59688E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85812E-06 | 0 | 0 |
| A/T | rs776959962 |
-1.72 | None | N | None | 0.421 | 0.473616572423 | gnomAD-2.1.1 | 4.05E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| A/T | rs776959962 |
-1.72 | None | N | None | 0.421 | 0.473616572423 | gnomAD-4.0.0 | 1.59688E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43275E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.8117 | likely_pathogenic | 0.7789 | pathogenic | -1.136 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/D | 0.986 | likely_pathogenic | 0.9805 | pathogenic | -2.667 | Highly Destabilizing | None | None | None | None | D | 0.522550084 | None | None | N |
| A/E | 0.9702 | likely_pathogenic | 0.9612 | pathogenic | -2.475 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| A/F | 0.9124 | likely_pathogenic | 0.8835 | pathogenic | -0.756 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/G | 0.5286 | ambiguous | 0.4677 | ambiguous | -1.479 | Destabilizing | None | None | None | None | N | 0.498658931 | None | None | N |
| A/H | 0.9846 | likely_pathogenic | 0.9813 | pathogenic | -2.185 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| A/I | 0.815 | likely_pathogenic | 0.7745 | pathogenic | 0.279 | Stabilizing | None | None | None | None | None | None | None | None | N |
| A/K | 0.9915 | likely_pathogenic | 0.9885 | pathogenic | -1.289 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/L | 0.66 | likely_pathogenic | 0.6101 | pathogenic | 0.279 | Stabilizing | None | None | None | None | None | None | None | None | N |
| A/M | 0.7828 | likely_pathogenic | 0.7323 | pathogenic | 0.143 | Stabilizing | None | None | None | None | None | None | None | None | N |
| A/N | 0.9655 | likely_pathogenic | 0.9556 | pathogenic | -1.603 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/P | 0.993 | likely_pathogenic | 0.9916 | pathogenic | -0.105 | Destabilizing | None | None | None | None | D | 0.522550084 | None | None | N |
| A/Q | 0.9619 | likely_pathogenic | 0.9526 | pathogenic | -1.403 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/R | 0.9723 | likely_pathogenic | 0.9666 | pathogenic | -1.4 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/S | 0.3988 | ambiguous | 0.3482 | ambiguous | -1.928 | Destabilizing | None | None | None | None | N | 0.49529157 | None | None | N |
| A/T | 0.6309 | likely_pathogenic | 0.5532 | ambiguous | -1.617 | Destabilizing | None | None | None | None | N | 0.492075566 | None | None | N |
| A/V | 0.5519 | ambiguous | 0.4924 | ambiguous | -0.105 | Destabilizing | None | None | None | None | N | 0.477318118 | None | None | N |
| A/W | 0.9921 | likely_pathogenic | 0.9897 | pathogenic | -1.674 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/Y | 0.9536 | likely_pathogenic | 0.943 | pathogenic | -1.076 | 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.