Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33969 | 102130;102131;102132 | chr2:178534710;178534709;178534708 | chr2:179399437;179399436;179399435 |
| N2AB | 32328 | 97207;97208;97209 | chr2:178534710;178534709;178534708 | chr2:179399437;179399436;179399435 |
| N2A | 31401 | 94426;94427;94428 | chr2:178534710;178534709;178534708 | chr2:179399437;179399436;179399435 |
| N2B | 24904 | 74935;74936;74937 | chr2:178534710;178534709;178534708 | chr2:179399437;179399436;179399435 |
| Novex-1 | 25029 | 75310;75311;75312 | chr2:178534710;178534709;178534708 | chr2:179399437;179399436;179399435 |
| Novex-2 | 25096 | 75511;75512;75513 | chr2:178534710;178534709;178534708 | chr2:179399437;179399436;179399435 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
- RefSeq wild type amino acid: G
- RefSeq wild type transcript codon: GGG
- RefSeq wild type template codon: CCC
- Domain: Kinase-1
- Domain position: 157
- Q(SASA): 0.2489
- 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/E | None | None | None | N | None | 0.495 | 0.498450045523 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.5076 | ambiguous | 0.5953 | pathogenic | -0.631 | Destabilizing | None | None | None | None | N | 0.512353411 | None | None | N |
| G/C | 0.7347 | likely_pathogenic | 0.7493 | pathogenic | -0.992 | Destabilizing | None | None | None | None | None | None | None | None | N |
| G/D | 0.6147 | likely_pathogenic | 0.6834 | pathogenic | -1.08 | Destabilizing | None | None | None | None | None | None | None | None | N |
| G/E | 0.6601 | likely_pathogenic | 0.6992 | pathogenic | -1.221 | Destabilizing | None | None | None | None | N | 0.511006617 | None | None | N |
| G/F | 0.9371 | likely_pathogenic | 0.944 | pathogenic | -1.202 | Destabilizing | None | None | None | None | None | None | None | None | N |
| G/H | 0.8325 | likely_pathogenic | 0.8622 | pathogenic | -0.963 | Destabilizing | None | None | None | None | None | None | None | None | N |
| G/I | 0.9197 | likely_pathogenic | 0.9413 | pathogenic | -0.598 | Destabilizing | None | None | None | None | None | None | None | None | N |
| G/K | 0.8442 | likely_pathogenic | 0.8461 | pathogenic | -1.23 | Destabilizing | None | None | None | None | None | None | None | None | N |
| G/L | 0.8751 | likely_pathogenic | 0.9085 | pathogenic | -0.598 | Destabilizing | None | None | None | None | None | None | None | None | N |
| G/M | 0.898 | likely_pathogenic | 0.922 | pathogenic | -0.487 | Destabilizing | None | None | None | None | None | None | None | None | N |
| G/N | 0.5949 | likely_pathogenic | 0.6875 | pathogenic | -0.851 | Destabilizing | None | None | None | None | None | None | None | None | N |
| G/P | 0.9861 | likely_pathogenic | 0.9909 | pathogenic | -0.573 | Destabilizing | None | None | None | None | None | None | None | None | N |
| G/Q | 0.7172 | likely_pathogenic | 0.7621 | pathogenic | -1.161 | Destabilizing | None | None | None | None | None | None | None | None | N |
| G/R | 0.7499 | likely_pathogenic | 0.7486 | pathogenic | -0.723 | Destabilizing | None | None | None | None | N | 0.520146175 | None | None | N |
| G/S | 0.3133 | likely_benign | 0.3972 | ambiguous | -1.009 | Destabilizing | None | None | None | None | None | None | None | None | N |
| G/T | 0.58 | likely_pathogenic | 0.667 | pathogenic | -1.088 | Destabilizing | None | None | None | None | None | None | None | None | N |
| G/V | 0.8392 | likely_pathogenic | 0.8782 | pathogenic | -0.573 | Destabilizing | None | None | None | None | N | 0.500972655 | None | None | N |
| G/W | 0.894 | likely_pathogenic | 0.8977 | pathogenic | -1.382 | Destabilizing | None | None | None | None | N | 0.505607464 | None | None | N |
| G/Y | 0.8932 | likely_pathogenic | 0.9093 | pathogenic | -1.05 | 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.