Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 34011 | 102256;102257;102258 | chr2:178534584;178534583;178534582 | chr2:179399311;179399310;179399309 |
| N2AB | 32370 | 97333;97334;97335 | chr2:178534584;178534583;178534582 | chr2:179399311;179399310;179399309 |
| N2A | 31443 | 94552;94553;94554 | chr2:178534584;178534583;178534582 | chr2:179399311;179399310;179399309 |
| N2B | 24946 | 75061;75062;75063 | chr2:178534584;178534583;178534582 | chr2:179399311;179399310;179399309 |
| Novex-1 | 25071 | 75436;75437;75438 | chr2:178534584;178534583;178534582 | chr2:179399311;179399310;179399309 |
| Novex-2 | 25138 | 75637;75638;75639 | chr2:178534584;178534583;178534582 | chr2:179399311;179399310;179399309 |
| 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: 199
- Q(SASA): 0.0861
- 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/S | None | None | None | N | None | 0.637 | 0.407901774203 | 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 | 0.776 | likely_pathogenic | 0.7402 | pathogenic | -0.576 | Destabilizing | None | None | None | None | N | 0.493653776 | None | None | N |
| G/C | 0.9291 | likely_pathogenic | 0.9142 | pathogenic | -1.02 | Destabilizing | None | None | None | None | D | 0.528420709 | None | None | N |
| G/D | 0.9654 | likely_pathogenic | 0.9696 | pathogenic | -1.96 | Destabilizing | None | None | None | None | D | 0.52791373 | None | None | N |
| G/E | 0.9695 | likely_pathogenic | 0.9708 | pathogenic | -1.795 | Destabilizing | None | None | None | None | None | None | None | None | N |
| G/F | 0.9963 | likely_pathogenic | 0.9951 | pathogenic | -0.527 | Destabilizing | None | None | None | None | None | None | None | None | N |
| G/H | 0.9909 | likely_pathogenic | 0.9914 | pathogenic | -1.767 | Destabilizing | None | None | None | None | None | None | None | None | N |
| G/I | 0.9901 | likely_pathogenic | 0.9872 | pathogenic | 0.493 | Stabilizing | None | None | None | None | None | None | None | None | N |
| G/K | 0.9878 | likely_pathogenic | 0.9887 | pathogenic | -0.901 | Destabilizing | None | None | None | None | None | None | None | None | N |
| G/L | 0.9909 | likely_pathogenic | 0.9875 | pathogenic | 0.493 | Stabilizing | None | None | None | None | None | None | None | None | N |
| G/M | 0.9927 | likely_pathogenic | 0.9904 | pathogenic | 0.11 | Stabilizing | None | None | None | None | None | None | None | None | N |
| G/N | 0.97 | likely_pathogenic | 0.9738 | pathogenic | -1.157 | Destabilizing | None | None | None | None | None | None | None | None | N |
| G/P | 0.9971 | likely_pathogenic | 0.9968 | pathogenic | 0.181 | Stabilizing | None | None | None | None | None | None | None | None | N |
| G/Q | 0.9757 | likely_pathogenic | 0.9784 | pathogenic | -0.966 | Destabilizing | None | None | None | None | None | None | None | None | N |
| G/R | 0.9695 | likely_pathogenic | 0.972 | pathogenic | -1.136 | Destabilizing | None | None | None | None | N | 0.492412782 | None | None | N |
| G/S | 0.7283 | likely_pathogenic | 0.7202 | pathogenic | -1.487 | Destabilizing | None | None | None | None | N | 0.485273212 | None | None | N |
| G/T | 0.9524 | likely_pathogenic | 0.943 | pathogenic | -1.204 | Destabilizing | None | None | None | None | None | None | None | None | N |
| G/V | 0.9741 | likely_pathogenic | 0.9686 | pathogenic | 0.181 | Stabilizing | None | None | None | None | D | 0.527406751 | None | None | N |
| G/W | 0.9924 | likely_pathogenic | 0.9917 | pathogenic | -1.355 | Destabilizing | None | None | None | None | None | None | None | None | N |
| G/Y | 0.9935 | likely_pathogenic | 0.993 | pathogenic | -0.727 | 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.