Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 34101 | 102526;102527;102528 | chr2:178534314;178534313;178534312 | chr2:179399041;179399040;179399039 |
| N2AB | 32460 | 97603;97604;97605 | chr2:178534314;178534313;178534312 | chr2:179399041;179399040;179399039 |
| N2A | 31533 | 94822;94823;94824 | chr2:178534314;178534313;178534312 | chr2:179399041;179399040;179399039 |
| N2B | 25036 | 75331;75332;75333 | chr2:178534314;178534313;178534312 | chr2:179399041;179399040;179399039 |
| Novex-1 | 25161 | 75706;75707;75708 | chr2:178534314;178534313;178534312 | chr2:179399041;179399040;179399039 |
| Novex-2 | 25228 | 75907;75908;75909 | chr2:178534314;178534313;178534312 | chr2:179399041;179399040;179399039 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
- RefSeq wild type amino acid: D
- RefSeq wild type transcript codon: GAC
- RefSeq wild type template codon: CTG
- Domain: Kinase-1
- Domain position: 289
- Q(SASA): 0.7991
- Predicted PPI site: I
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/N | None | None | None | N | None | 0.144 | 0.119812018005 | gnomAD-4.0.0 | 1.5918E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85786E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.6437 | likely_pathogenic | 0.7107 | pathogenic | 0.154 | Stabilizing | None | None | None | None | N | 0.408473242 | None | None | I |
| D/C | 0.9444 | likely_pathogenic | 0.9491 | pathogenic | -0.129 | Destabilizing | None | None | None | None | None | None | None | None | I |
| D/E | 0.2791 | likely_benign | 0.3371 | benign | -0.328 | Destabilizing | None | None | None | None | N | 0.39006084 | None | None | I |
| D/F | 0.9353 | likely_pathogenic | 0.932 | pathogenic | 0.041 | Stabilizing | None | None | None | None | None | None | None | None | I |
| D/G | 0.4801 | ambiguous | 0.5861 | pathogenic | 0.053 | Stabilizing | None | None | None | None | N | 0.409340034 | None | None | I |
| D/H | 0.6989 | likely_pathogenic | 0.7328 | pathogenic | 0.657 | Stabilizing | None | None | None | None | N | 0.40968675 | None | None | I |
| D/I | 0.8816 | likely_pathogenic | 0.8929 | pathogenic | 0.349 | Stabilizing | None | None | None | None | None | None | None | None | I |
| D/K | 0.8095 | likely_pathogenic | 0.8164 | pathogenic | 0.496 | Stabilizing | None | None | None | None | None | None | None | None | I |
| D/L | 0.8928 | likely_pathogenic | 0.8957 | pathogenic | 0.349 | Stabilizing | None | None | None | None | None | None | None | None | I |
| D/M | 0.9474 | likely_pathogenic | 0.9559 | pathogenic | 0.08 | Stabilizing | None | None | None | None | None | None | None | None | I |
| D/N | 0.2651 | likely_benign | 0.3421 | ambiguous | 0.24 | Stabilizing | None | None | None | None | N | 0.409513392 | None | None | I |
| D/P | 0.9112 | likely_pathogenic | 0.9053 | pathogenic | 0.303 | Stabilizing | None | None | None | None | None | None | None | None | I |
| D/Q | 0.6956 | likely_pathogenic | 0.72 | pathogenic | 0.246 | Stabilizing | None | None | None | None | None | None | None | None | I |
| D/R | 0.8291 | likely_pathogenic | 0.8346 | pathogenic | 0.696 | Stabilizing | None | None | None | None | None | None | None | None | I |
| D/S | 0.4245 | ambiguous | 0.5146 | ambiguous | 0.168 | Stabilizing | None | None | None | None | None | None | None | None | I |
| D/T | 0.6844 | likely_pathogenic | 0.7293 | pathogenic | 0.257 | Stabilizing | None | None | None | None | None | None | None | None | I |
| D/V | 0.7484 | likely_pathogenic | 0.7786 | pathogenic | 0.303 | Stabilizing | None | None | None | None | N | 0.4086466 | None | None | I |
| D/W | 0.9806 | likely_pathogenic | 0.9748 | pathogenic | 0.05 | Stabilizing | None | None | None | None | None | None | None | None | I |
| D/Y | 0.6331 | likely_pathogenic | 0.6116 | pathogenic | 0.261 | Stabilizing | None | None | None | None | N | 0.409513392 | None | None | I |
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.