Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 34104 | 102535;102536;102537 | chr2:178534305;178534304;178534303 | chr2:179399032;179399031;179399030 |
| N2AB | 32463 | 97612;97613;97614 | chr2:178534305;178534304;178534303 | chr2:179399032;179399031;179399030 |
| N2A | 31536 | 94831;94832;94833 | chr2:178534305;178534304;178534303 | chr2:179399032;179399031;179399030 |
| N2B | 25039 | 75340;75341;75342 | chr2:178534305;178534304;178534303 | chr2:179399032;179399031;179399030 |
| Novex-1 | 25164 | 75715;75716;75717 | chr2:178534305;178534304;178534303 | chr2:179399032;179399031;179399030 |
| Novex-2 | 25231 | 75916;75917;75918 | chr2:178534305;178534304;178534303 | chr2:179399032;179399031;179399030 |
| 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: 292
- Q(SASA): 0.1459
- 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| M/I | None | None | None | N | None | 0.108 | 0.43126412278 | gnomAD-4.0.0 | 2.73697E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.5977E-06 | 0 | 0 |
| M/R | rs769416699  |
0.195 | None | N | None | 0.223 | 0.519889284407 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.89E-06 | 0 |
| M/R | rs769416699 |
0.195 | None | N | None | 0.223 | 0.519889284407 | gnomAD-4.0.0 | 6.84235E-07 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99425E-07 | 0 | 0 |
| M/T | rs769416699 |
None | None | N | None | 0.237 | 0.528761452848 | gnomAD-4.0.0 | 6.84235E-07 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99425E-07 | 0 | 0 |
| M/V | rs1559035751 |
None | None | N | None | 0.185 | 0.383089235449 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.89E-06 | 0 |
| M/V | rs1559035751 |
None | None | N | None | 0.185 | 0.383089235449 | gnomAD-4.0.0 | 2.05274E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79885E-06 | 0 | 1.65656E-05 |
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 | 0.2966 | likely_benign | 0.3833 | ambiguous | -0.903 | Destabilizing | None | None | None | None | None | None | None | None | I |
| M/C | 0.6943 | likely_pathogenic | 0.6916 | pathogenic | -1.038 | Destabilizing | None | None | None | None | None | None | None | None | I |
| M/D | 0.8058 | likely_pathogenic | 0.8094 | pathogenic | -0.101 | Destabilizing | None | None | None | None | None | None | None | None | I |
| M/E | 0.5513 | ambiguous | 0.5741 | pathogenic | -0.113 | Destabilizing | None | None | None | None | None | None | None | None | I |
| M/F | 0.4287 | ambiguous | 0.4745 | ambiguous | -0.341 | Destabilizing | None | None | None | None | None | None | None | None | I |
| M/G | 0.5892 | likely_pathogenic | 0.6609 | pathogenic | -1.152 | Destabilizing | None | None | None | None | None | None | None | None | I |
| M/H | 0.5224 | ambiguous | 0.5573 | ambiguous | -0.42 | Destabilizing | None | None | None | None | None | None | None | None | I |
| M/I | 0.3709 | ambiguous | 0.4722 | ambiguous | -0.313 | Destabilizing | None | None | None | None | N | 0.425462358 | None | None | I |
| M/K | 0.271 | likely_benign | 0.3336 | benign | 0.132 | Stabilizing | None | None | None | None | N | 0.424942283 | None | None | I |
| M/L | 0.1533 | likely_benign | 0.2162 | benign | -0.313 | Destabilizing | None | None | None | None | N | 0.424768925 | None | None | I |
| M/N | 0.4879 | ambiguous | 0.5669 | pathogenic | 0.25 | Stabilizing | None | None | None | None | None | None | None | None | I |
| M/P | 0.8684 | likely_pathogenic | 0.9268 | pathogenic | -0.48 | Destabilizing | None | None | None | None | None | None | None | None | I |
| M/Q | 0.3027 | likely_benign | 0.3087 | benign | 0.101 | Stabilizing | None | None | None | None | None | None | None | None | I |
| M/R | 0.2694 | likely_benign | 0.3171 | benign | 0.492 | Stabilizing | None | None | None | None | N | 0.424942283 | None | None | I |
| M/S | 0.3631 | ambiguous | 0.4291 | ambiguous | -0.281 | Destabilizing | None | None | None | None | None | None | None | None | I |
| M/T | 0.1367 | likely_benign | 0.1998 | benign | -0.185 | Destabilizing | None | None | None | None | N | 0.39427266 | None | None | I |
| M/V | 0.0893 | likely_benign | 0.1376 | benign | -0.48 | Destabilizing | None | None | None | None | N | 0.424595567 | None | None | I |
| M/W | 0.7479 | likely_pathogenic | 0.7785 | pathogenic | -0.31 | Destabilizing | None | None | None | None | None | None | None | None | I |
| M/Y | 0.6331 | likely_pathogenic | 0.6315 | pathogenic | -0.169 | Destabilizing | None | None | None | None | None | None | 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.