Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 34055 | 102388;102389;102390 | chr2:178534452;178534451;178534450 | chr2:179399179;179399178;179399177 |
| N2AB | 32414 | 97465;97466;97467 | chr2:178534452;178534451;178534450 | chr2:179399179;179399178;179399177 |
| N2A | 31487 | 94684;94685;94686 | chr2:178534452;178534451;178534450 | chr2:179399179;179399178;179399177 |
| N2B | 24990 | 75193;75194;75195 | chr2:178534452;178534451;178534450 | chr2:179399179;179399178;179399177 |
| Novex-1 | 25115 | 75568;75569;75570 | chr2:178534452;178534451;178534450 | chr2:179399179;179399178;179399177 |
| Novex-2 | 25182 | 75769;75770;75771 | chr2:178534452;178534451;178534450 | chr2:179399179;179399178;179399177 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
- RefSeq wild type amino acid: V
- RefSeq wild type transcript codon: GTG
- RefSeq wild type template codon: CAC
- Domain: Kinase-1
- Domain position: 243
- Q(SASA): 0.1305
- 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | rs752582515  |
-2.177 | None | N | None | 0.203 | 0.503559190036 | gnomAD-2.1.1 | 1.40936E-04 | None | None | None | None | N | None | 0 | 9.8505E-04 | None | 0 | 0 | None | 0 | None | 0 | 0 | 1.65893E-04 |
| V/A | rs752582515 |
-2.177 | None | N | None | 0.203 | 0.503559190036 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 6.55E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/A | rs752582515 |
-2.177 | None | N | None | 0.203 | 0.503559190036 | gnomAD-4.0.0 | 2.78988E-05 | None | None | None | None | N | None | 1.33529E-05 | 6.16811E-04 | None | 0 | 0 | None | 0 | 0 | 4.23799E-06 | 0 | 3.20215E-05 |
| V/L | None | None | None | N | None | 0.104 | 0.338592109245 | gnomAD-4.0.0 | 1.5929E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85811E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.4122 | ambiguous | 0.3629 | ambiguous | -1.859 | Destabilizing | None | None | None | None | N | 0.476565969 | None | None | N |
| V/C | 0.8067 | likely_pathogenic | 0.7743 | pathogenic | -1.337 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/D | 0.6848 | likely_pathogenic | 0.6069 | pathogenic | -1.896 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/E | 0.534 | ambiguous | 0.441 | ambiguous | -1.778 | Destabilizing | None | None | None | None | N | 0.451803598 | None | None | N |
| V/F | 0.411 | ambiguous | 0.3492 | ambiguous | -1.258 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/G | 0.3559 | ambiguous | 0.3057 | benign | -2.31 | Highly Destabilizing | None | None | None | None | D | 0.53065117 | None | None | N |
| V/H | 0.7791 | likely_pathogenic | 0.7104 | pathogenic | -1.916 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/I | 0.1473 | likely_benign | 0.143 | benign | -0.656 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/K | 0.5895 | likely_pathogenic | 0.4701 | ambiguous | -1.39 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/L | 0.3681 | ambiguous | 0.3346 | benign | -0.656 | Destabilizing | None | None | None | None | N | 0.49321029 | None | None | N |
| V/M | 0.3528 | ambiguous | 0.3364 | benign | -0.572 | Destabilizing | None | None | None | None | N | 0.504600719 | None | None | N |
| V/N | 0.5142 | ambiguous | 0.4499 | ambiguous | -1.43 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/P | 0.8734 | likely_pathogenic | 0.8514 | pathogenic | -1.026 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/Q | 0.4646 | ambiguous | 0.4041 | ambiguous | -1.44 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/R | 0.4901 | ambiguous | 0.3739 | ambiguous | -1.06 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/S | 0.3796 | ambiguous | 0.3273 | benign | -2.083 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| V/T | 0.3177 | likely_benign | 0.2824 | benign | -1.833 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/W | 0.9422 | likely_pathogenic | 0.9248 | pathogenic | -1.616 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/Y | 0.807 | likely_pathogenic | 0.742 | pathogenic | -1.263 | 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.