Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 34047 | 102364;102365;102366 | chr2:178534476;178534475;178534474 | chr2:179399203;179399202;179399201 |
| N2AB | 32406 | 97441;97442;97443 | chr2:178534476;178534475;178534474 | chr2:179399203;179399202;179399201 |
| N2A | 31479 | 94660;94661;94662 | chr2:178534476;178534475;178534474 | chr2:179399203;179399202;179399201 |
| N2B | 24982 | 75169;75170;75171 | chr2:178534476;178534475;178534474 | chr2:179399203;179399202;179399201 |
| Novex-1 | 25107 | 75544;75545;75546 | chr2:178534476;178534475;178534474 | chr2:179399203;179399202;179399201 |
| Novex-2 | 25174 | 75745;75746;75747 | chr2:178534476;178534475;178534474 | chr2:179399203;179399202;179399201 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
- RefSeq wild type amino acid: M
- RefSeq wild type transcript codon: ATG
- RefSeq wild type template codon: TAC
- Domain: Kinase-1
- Domain position: 235
- Q(SASA): 0.1029
- 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| M/I | None | None | None | N | None | 0.171 | 0.536661227952 | gnomAD-4.0.0 | 1.5919E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85811E-06 | 0 | 0 |
| M/R | rs745563787  |
-1.138 | None | N | None | 0.399 | 0.662098403027 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.87E-06 | 0 |
| M/R | rs745563787 |
-1.138 | None | N | None | 0.399 | 0.662098403027 | gnomAD-4.0.0 | 1.59183E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85811E-06 | 0 | 0 |
| M/T | rs745563787 |
-1.887 | None | N | None | 0.366 | 0.655667022751 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| M/T | rs745563787 |
-1.887 | None | N | None | 0.366 | 0.655667022751 | gnomAD-4.0.0 | 1.59183E-06 | None | None | None | None | N | None | 0 | 2.28634E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| M/V | rs755244797 |
-1.381 | None | N | None | 0.156 | 0.529060795929 | gnomAD-2.1.1 | 8.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.56E-05 | None | 3.27E-05 | None | 0 | 0 | 0 |
| M/V | rs755244797 |
-1.381 | None | N | None | 0.156 | 0.529060795929 | gnomAD-4.0.0 | 9.55079E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.77254E-05 | None | 0 | 0 | 0 | 7.16373E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| M/A | 0.7299 | likely_pathogenic | 0.6928 | pathogenic | -2.582 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| M/C | 0.8833 | likely_pathogenic | 0.8692 | pathogenic | -2.047 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| M/D | 0.9901 | likely_pathogenic | 0.9853 | pathogenic | -1.457 | Destabilizing | None | None | None | None | None | None | None | None | N |
| M/E | 0.853 | likely_pathogenic | 0.8106 | pathogenic | -1.257 | Destabilizing | None | None | None | None | None | None | None | None | N |
| M/F | 0.7116 | likely_pathogenic | 0.6724 | pathogenic | -1.203 | Destabilizing | None | None | None | None | None | None | None | None | N |
| M/G | 0.922 | likely_pathogenic | 0.9002 | pathogenic | -3.062 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| M/H | 0.9384 | likely_pathogenic | 0.9131 | pathogenic | -2.381 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| M/I | 0.742 | likely_pathogenic | 0.7168 | pathogenic | -1.212 | Destabilizing | None | None | None | None | N | 0.397547825 | None | None | N |
| M/K | 0.5385 | ambiguous | 0.4696 | ambiguous | -1.279 | Destabilizing | None | None | None | None | N | 0.326818304 | None | None | N |
| M/L | 0.2572 | likely_benign | 0.2469 | benign | -1.212 | Destabilizing | None | None | None | None | N | 0.402953645 | None | None | N |
| M/N | 0.9382 | likely_pathogenic | 0.9216 | pathogenic | -1.543 | Destabilizing | None | None | None | None | None | None | None | None | N |
| M/P | 0.9935 | likely_pathogenic | 0.9924 | pathogenic | -1.649 | Destabilizing | None | None | None | None | None | None | None | None | N |
| M/Q | 0.5923 | likely_pathogenic | 0.5174 | ambiguous | -1.289 | Destabilizing | None | None | None | None | None | None | None | None | N |
| M/R | 0.5738 | likely_pathogenic | 0.4932 | ambiguous | -1.24 | Destabilizing | None | None | None | None | N | 0.379154065 | None | None | N |
| M/S | 0.8519 | likely_pathogenic | 0.817 | pathogenic | -2.234 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| M/T | 0.6397 | likely_pathogenic | 0.5886 | pathogenic | -1.886 | Destabilizing | None | None | None | None | N | 0.39441152 | None | None | N |
| M/V | 0.219 | likely_benign | 0.2022 | benign | -1.649 | Destabilizing | None | None | None | None | N | 0.374364321 | None | None | N |
| M/W | 0.9362 | likely_pathogenic | 0.9159 | pathogenic | -1.318 | Destabilizing | None | None | None | None | None | None | None | None | N |
| M/Y | 0.9264 | likely_pathogenic | 0.9024 | pathogenic | -1.375 | 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.