Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 34120 | 102583;102584;102585 | chr2:178534257;178534256;178534255 | chr2:179398984;179398983;179398982 |
| N2AB | 32479 | 97660;97661;97662 | chr2:178534257;178534256;178534255 | chr2:179398984;179398983;179398982 |
| N2A | 31552 | 94879;94880;94881 | chr2:178534257;178534256;178534255 | chr2:179398984;179398983;179398982 |
| N2B | 25055 | 75388;75389;75390 | chr2:178534257;178534256;178534255 | chr2:179398984;179398983;179398982 |
| Novex-1 | 25180 | 75763;75764;75765 | chr2:178534257;178534256;178534255 | chr2:179398984;179398983;179398982 |
| Novex-2 | 25247 | 75964;75965;75966 | chr2:178534257;178534256;178534255 | chr2:179398984;179398983;179398982 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
- RefSeq wild type amino acid: Q
- RefSeq wild type transcript codon: CAG
- RefSeq wild type template codon: GTC
- Domain: Kinase-1
- Domain position: 308
- Q(SASA): 0.5736
- 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/P | None | None | None | N | None | 0.517 | 0.433269665224 | gnomAD-4.0.0 | 1.20046E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.31265E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/A | 0.4245 | ambiguous | 0.5257 | ambiguous | -0.042 | Destabilizing | None | None | None | None | None | None | None | None | N |
| Q/C | 0.8967 | likely_pathogenic | 0.945 | pathogenic | -0.123 | Destabilizing | None | None | None | None | None | None | None | None | N |
| Q/D | 0.7855 | likely_pathogenic | 0.8709 | pathogenic | 0.108 | Stabilizing | None | None | None | None | None | None | None | None | N |
| Q/E | 0.186 | likely_benign | 0.2551 | benign | 0.082 | Stabilizing | None | None | None | None | N | 0.455785265 | None | None | N |
| Q/F | 0.9082 | likely_pathogenic | 0.9331 | pathogenic | -0.4 | Destabilizing | None | None | None | None | None | None | None | None | N |
| Q/G | 0.503 | ambiguous | 0.5622 | ambiguous | -0.178 | Destabilizing | None | None | None | None | None | None | None | None | N |
| Q/H | 0.5475 | ambiguous | 0.7088 | pathogenic | 0.071 | Stabilizing | None | None | None | None | N | 0.457172132 | None | None | N |
| Q/I | 0.7137 | likely_pathogenic | 0.7891 | pathogenic | 0.221 | Stabilizing | None | None | None | None | None | None | None | None | N |
| Q/K | 0.268 | likely_benign | 0.2912 | benign | 0.14 | Stabilizing | None | None | None | None | N | 0.455785265 | None | None | N |
| Q/L | 0.3676 | ambiguous | 0.4716 | ambiguous | 0.221 | Stabilizing | None | None | None | None | N | 0.456825415 | None | None | N |
| Q/M | 0.6072 | likely_pathogenic | 0.6583 | pathogenic | 0.113 | Stabilizing | None | None | None | None | None | None | None | None | N |
| Q/N | 0.5424 | ambiguous | 0.654 | pathogenic | -0.336 | Destabilizing | None | None | None | None | None | None | None | None | N |
| Q/P | 0.4592 | ambiguous | 0.5066 | ambiguous | 0.159 | Stabilizing | None | None | None | None | N | 0.457692207 | None | None | N |
| Q/R | 0.2885 | likely_benign | 0.3371 | benign | 0.294 | Stabilizing | None | None | None | None | N | 0.456652057 | None | None | N |
| Q/S | 0.4072 | ambiguous | 0.468 | ambiguous | -0.285 | Destabilizing | None | None | None | None | None | None | None | None | N |
| Q/T | 0.4266 | ambiguous | 0.537 | ambiguous | -0.165 | Destabilizing | None | None | None | None | None | None | None | None | N |
| Q/V | 0.5377 | ambiguous | 0.6277 | pathogenic | 0.159 | Stabilizing | None | None | None | None | None | None | None | None | N |
| Q/W | 0.894 | likely_pathogenic | 0.9254 | pathogenic | -0.469 | Destabilizing | None | None | None | None | None | None | None | None | N |
| Q/Y | 0.8221 | likely_pathogenic | 0.8842 | pathogenic | -0.154 | 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.