Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33988 | 102187;102188;102189 | chr2:178534653;178534652;178534651 | chr2:179399380;179399379;179399378 |
| N2AB | 32347 | 97264;97265;97266 | chr2:178534653;178534652;178534651 | chr2:179399380;179399379;179399378 |
| N2A | 31420 | 94483;94484;94485 | chr2:178534653;178534652;178534651 | chr2:179399380;179399379;179399378 |
| N2B | 24923 | 74992;74993;74994 | chr2:178534653;178534652;178534651 | chr2:179399380;179399379;179399378 |
| Novex-1 | 25048 | 75367;75368;75369 | chr2:178534653;178534652;178534651 | chr2:179399380;179399379;179399378 |
| Novex-2 | 25115 | 75568;75569;75570 | chr2:178534653;178534652;178534651 | chr2:179399380;179399379;179399378 |
| 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: 176
- Q(SASA): 0.4602
- 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/H | rs1690644273  |
None | None | N | None | 0.13 | 0.0666544352282 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| Q/H | rs1690644273 |
None | None | N | None | 0.13 | 0.0666544352282 | gnomAD-4.0.0 | 6.56961E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.46964E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/A | 0.3311 | likely_benign | 0.287 | benign | -0.474 | Destabilizing | None | None | None | None | None | None | None | None | N |
| Q/C | 0.7333 | likely_pathogenic | 0.7099 | pathogenic | 0.289 | Stabilizing | None | None | None | None | None | None | None | None | N |
| Q/D | 0.4982 | ambiguous | 0.5265 | ambiguous | -0.612 | Destabilizing | None | None | None | None | None | None | None | None | N |
| Q/E | 0.1271 | likely_benign | 0.1206 | benign | -0.565 | Destabilizing | None | None | None | None | N | 0.427929447 | None | None | N |
| Q/F | 0.7709 | likely_pathogenic | 0.7555 | pathogenic | -0.288 | Destabilizing | None | None | None | None | None | None | None | None | N |
| Q/G | 0.3503 | ambiguous | 0.3165 | benign | -0.794 | Destabilizing | None | None | None | None | None | None | None | None | N |
| Q/H | 0.2376 | likely_benign | 0.2842 | benign | -0.816 | Destabilizing | None | None | None | None | N | 0.492172927 | None | None | N |
| Q/I | 0.5586 | ambiguous | 0.5182 | ambiguous | 0.325 | Stabilizing | None | None | None | None | None | None | None | None | N |
| Q/K | 0.1583 | likely_benign | 0.1462 | benign | -0.439 | Destabilizing | None | None | None | None | N | 0.397433182 | None | None | N |
| Q/L | 0.2144 | likely_benign | 0.2054 | benign | 0.325 | Stabilizing | None | None | None | None | N | 0.427889375 | None | None | N |
| Q/M | 0.4991 | ambiguous | 0.4623 | ambiguous | 0.862 | Stabilizing | None | None | None | None | None | None | None | None | N |
| Q/N | 0.3221 | likely_benign | 0.3064 | benign | -0.741 | Destabilizing | None | None | None | None | None | None | None | None | N |
| Q/P | 0.3682 | ambiguous | 0.4053 | ambiguous | 0.089 | Stabilizing | None | None | None | None | N | 0.521802401 | None | None | N |
| Q/R | 0.1501 | likely_benign | 0.1474 | benign | -0.342 | Destabilizing | None | None | None | None | N | 0.432719192 | None | None | N |
| Q/S | 0.2622 | likely_benign | 0.2436 | benign | -0.762 | Destabilizing | None | None | None | None | None | None | None | None | N |
| Q/T | 0.2852 | likely_benign | 0.2516 | benign | -0.546 | Destabilizing | None | None | None | None | None | None | None | None | N |
| Q/V | 0.4086 | ambiguous | 0.3732 | ambiguous | 0.089 | Stabilizing | None | None | None | None | None | None | None | None | N |
| Q/W | 0.7622 | likely_pathogenic | 0.7431 | pathogenic | -0.253 | Destabilizing | None | None | None | None | None | None | None | None | N |
| Q/Y | 0.573 | likely_pathogenic | 0.5791 | pathogenic | -0.047 | 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.