Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 34102 | 102529;102530;102531 | chr2:178534311;178534310;178534309 | chr2:179399038;179399037;179399036 |
| N2AB | 32461 | 97606;97607;97608 | chr2:178534311;178534310;178534309 | chr2:179399038;179399037;179399036 |
| N2A | 31534 | 94825;94826;94827 | chr2:178534311;178534310;178534309 | chr2:179399038;179399037;179399036 |
| N2B | 25037 | 75334;75335;75336 | chr2:178534311;178534310;178534309 | chr2:179399038;179399037;179399036 |
| Novex-1 | 25162 | 75709;75710;75711 | chr2:178534311;178534310;178534309 | chr2:179399038;179399037;179399036 |
| Novex-2 | 25229 | 75910;75911;75912 | chr2:178534311;178534310;178534309 | chr2:179399038;179399037;179399036 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
- RefSeq wild type amino acid: L
- RefSeq wild type transcript codon: CTC
- RefSeq wild type template codon: GAG
- Domain: Kinase-1
- Domain position: 290
- Q(SASA): 0.4811
- 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| L/R | rs748971754  |
0.272 | None | N | None | 0.191 | 0.427713192076 | gnomAD-2.1.1 | 2.82E-05 | None | None | None | None | I | None | 0 | 2.9E-05 | None | 0 | 3.34039E-04 | None | 0 | None | 0 | 0 | 0 |
| L/R | rs748971754 |
0.272 | None | N | None | 0.191 | 0.427713192076 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 1.9253E-04 | None | 0 | 0 | 0 | 0 | 0 |
| L/R | rs748971754 |
0.272 | None | N | None | 0.191 | 0.427713192076 | gnomAD-4.0.0 | 6.40649E-06 | None | None | None | None | I | None | 0 | 1.69446E-05 | None | 0 | 7.27096E-05 | None | 0 | 2.24115E-04 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| L/A | 0.3222 | likely_benign | 0.3857 | ambiguous | -0.551 | Destabilizing | None | None | None | None | None | None | None | None | I |
| L/C | 0.657 | likely_pathogenic | 0.6662 | pathogenic | -0.387 | Destabilizing | None | None | None | None | None | None | None | None | I |
| L/D | 0.785 | likely_pathogenic | 0.8454 | pathogenic | -0.436 | Destabilizing | None | None | None | None | None | None | None | None | I |
| L/E | 0.5171 | ambiguous | 0.5962 | pathogenic | -0.518 | Destabilizing | None | None | None | None | None | None | None | None | I |
| L/F | 0.1873 | likely_benign | 0.2106 | benign | -0.616 | Destabilizing | None | None | None | None | N | 0.4107269 | None | None | I |
| L/G | 0.5673 | likely_pathogenic | 0.6327 | pathogenic | -0.723 | Destabilizing | None | None | None | None | None | None | None | None | I |
| L/H | 0.3689 | ambiguous | 0.4576 | ambiguous | -0.172 | Destabilizing | None | None | None | None | N | 0.411246975 | None | None | I |
| L/I | 0.1164 | likely_benign | 0.1299 | benign | -0.207 | Destabilizing | None | None | None | None | N | 0.410206825 | None | None | I |
| L/K | 0.404 | ambiguous | 0.4504 | ambiguous | -0.35 | Destabilizing | None | None | None | None | None | None | None | None | I |
| L/M | 0.1235 | likely_benign | 0.1509 | benign | -0.337 | Destabilizing | None | None | None | None | None | None | None | None | I |
| L/N | 0.4665 | ambiguous | 0.5583 | ambiguous | -0.018 | Destabilizing | None | None | None | None | None | None | None | None | I |
| L/P | 0.488 | ambiguous | 0.6152 | pathogenic | -0.29 | Destabilizing | None | None | None | None | N | 0.410553542 | None | None | I |
| L/Q | 0.2467 | likely_benign | 0.3241 | benign | -0.236 | Destabilizing | None | None | None | None | None | None | None | None | I |
| L/R | 0.3531 | ambiguous | 0.3881 | ambiguous | 0.14 | Stabilizing | None | None | None | None | N | 0.410380184 | None | None | I |
| L/S | 0.3353 | likely_benign | 0.4529 | ambiguous | -0.385 | Destabilizing | None | None | None | None | None | None | None | None | I |
| L/T | 0.2664 | likely_benign | 0.3255 | benign | -0.364 | Destabilizing | None | None | None | None | None | None | None | None | I |
| L/V | 0.1366 | likely_benign | 0.1662 | benign | -0.29 | Destabilizing | None | None | None | None | N | 0.409860109 | None | None | I |
| L/W | 0.2803 | likely_benign | 0.2828 | benign | -0.676 | Destabilizing | None | None | None | None | None | None | None | None | I |
| L/Y | 0.4248 | ambiguous | 0.4488 | ambiguous | -0.41 | 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.