Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 34075 | 102448;102449;102450 | chr2:178534392;178534391;178534390 | chr2:179399119;179399118;179399117 |
| N2AB | 32434 | 97525;97526;97527 | chr2:178534392;178534391;178534390 | chr2:179399119;179399118;179399117 |
| N2A | 31507 | 94744;94745;94746 | chr2:178534392;178534391;178534390 | chr2:179399119;179399118;179399117 |
| N2B | 25010 | 75253;75254;75255 | chr2:178534392;178534391;178534390 | chr2:179399119;179399118;179399117 |
| Novex-1 | 25135 | 75628;75629;75630 | chr2:178534392;178534391;178534390 | chr2:179399119;179399118;179399117 |
| Novex-2 | 25202 | 75829;75830;75831 | chr2:178534392;178534391;178534390 | chr2:179399119;179399118;179399117 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
- RefSeq wild type amino acid: Q
- RefSeq wild type transcript codon: CAG
- RefSeq wild type template codon: GTC
- Domain: Kinase-1
- Domain position: 263
- Q(SASA): 0.17
- 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/E | rs777288641  |
-0.699 | None | N | None | 0.16 | 0.12205267543 | gnomAD-2.1.1 | 4.07E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.89E-06 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/A | 0.335 | likely_benign | 0.3406 | ambiguous | -0.647 | Destabilizing | None | None | None | None | None | None | None | None | N |
| Q/C | 0.8476 | likely_pathogenic | 0.8738 | pathogenic | -0.106 | Destabilizing | None | None | None | None | None | None | None | None | N |
| Q/D | 0.4965 | ambiguous | 0.5433 | ambiguous | -0.81 | Destabilizing | None | None | None | None | None | None | None | None | N |
| Q/E | 0.105 | likely_benign | 0.1184 | benign | -0.614 | Destabilizing | None | None | None | None | N | 0.407953167 | None | None | N |
| Q/F | 0.8708 | likely_pathogenic | 0.8759 | pathogenic | -0.127 | Destabilizing | None | None | None | None | None | None | None | None | N |
| Q/G | 0.3344 | likely_benign | 0.339 | benign | -1.08 | Destabilizing | None | None | None | None | None | None | None | None | N |
| Q/H | 0.4627 | ambiguous | 0.4988 | ambiguous | -0.829 | Destabilizing | None | None | None | None | N | 0.409860109 | None | None | N |
| Q/I | 0.6297 | likely_pathogenic | 0.653 | pathogenic | 0.501 | Stabilizing | None | None | None | None | None | None | None | None | N |
| Q/K | 0.1655 | likely_benign | 0.1718 | benign | -0.415 | Destabilizing | None | None | None | None | N | 0.408473242 | None | None | N |
| Q/L | 0.2523 | likely_benign | 0.2677 | benign | 0.501 | Stabilizing | None | None | None | None | N | 0.410033467 | None | None | N |
| Q/M | 0.467 | ambiguous | 0.4571 | ambiguous | 0.747 | Stabilizing | None | None | None | None | None | None | None | None | N |
| Q/N | 0.3775 | ambiguous | 0.4014 | ambiguous | -1.155 | Destabilizing | None | None | None | None | None | None | None | None | N |
| Q/P | 0.5244 | ambiguous | 0.5903 | pathogenic | 0.15 | Stabilizing | None | None | None | None | N | 0.409340034 | None | None | N |
| Q/R | 0.2028 | likely_benign | 0.2103 | benign | -0.558 | Destabilizing | None | None | None | None | N | 0.390407556 | None | None | N |
| Q/S | 0.3445 | ambiguous | 0.3414 | ambiguous | -1.289 | Destabilizing | None | None | None | None | None | None | None | None | N |
| Q/T | 0.3371 | likely_benign | 0.3449 | ambiguous | -0.885 | Destabilizing | None | None | None | None | None | None | None | None | N |
| Q/V | 0.4578 | ambiguous | 0.487 | ambiguous | 0.15 | Stabilizing | None | None | None | None | None | None | None | None | N |
| Q/W | 0.8231 | likely_pathogenic | 0.8488 | pathogenic | -0.102 | Destabilizing | None | None | None | None | None | None | None | None | N |
| Q/Y | 0.6984 | likely_pathogenic | 0.7125 | pathogenic | 0.197 | Stabilizing | 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.