Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33822 | 101689;101690;101691 | chr2:178535151;178535150;178535149 | chr2:179399878;179399877;179399876 |
| N2AB | 32181 | 96766;96767;96768 | chr2:178535151;178535150;178535149 | chr2:179399878;179399877;179399876 |
| N2A | 31254 | 93985;93986;93987 | chr2:178535151;178535150;178535149 | chr2:179399878;179399877;179399876 |
| N2B | 24757 | 74494;74495;74496 | chr2:178535151;178535150;178535149 | chr2:179399878;179399877;179399876 |
| Novex-1 | 24882 | 74869;74870;74871 | chr2:178535151;178535150;178535149 | chr2:179399878;179399877;179399876 |
| Novex-2 | 24949 | 75070;75071;75072 | chr2:178535151;178535150;178535149 | chr2:179399878;179399877;179399876 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
- RefSeq wild type amino acid: A
- RefSeq wild type transcript codon: GCT
- RefSeq wild type template codon: CGA
- Domain: Kinase-1
- Domain position: 10
- Q(SASA): 0.1596
- 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/V | rs745421965  |
-0.435 | None | N | None | 0.334 | 0.411531665326 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.57E-05 | None | 0 | None | 0 | 0 | 0 |
| A/V | rs745421965 |
-0.435 | None | N | None | 0.334 | 0.411531665326 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 1.92901E-04 | None | 0 | 0 | 0 | 0 | 0 |
| A/V | rs745421965 |
-0.435 | None | N | None | 0.334 | 0.411531665326 | gnomAD-4.0.0 | 2.02995E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.13456E-04 | None | 0 | 0 | 1.20494E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.5528 | ambiguous | 0.6907 | pathogenic | -0.681 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/D | 0.7949 | likely_pathogenic | 0.9056 | pathogenic | -1.876 | Destabilizing | None | None | None | None | N | 0.414900569 | None | None | N |
| A/E | 0.6943 | likely_pathogenic | 0.8297 | pathogenic | -1.941 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/F | 0.6525 | likely_pathogenic | 0.8024 | pathogenic | -1.312 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/G | 0.3212 | likely_benign | 0.44 | ambiguous | -1.308 | Destabilizing | None | None | None | None | N | 0.343672402 | None | None | N |
| A/H | 0.7882 | likely_pathogenic | 0.8965 | pathogenic | -1.61 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/I | 0.6474 | likely_pathogenic | 0.7837 | pathogenic | -0.646 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/K | 0.8464 | likely_pathogenic | 0.9257 | pathogenic | -1.514 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/L | 0.3852 | ambiguous | 0.5346 | ambiguous | -0.646 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/M | 0.4952 | ambiguous | 0.6622 | pathogenic | -0.24 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/N | 0.6769 | likely_pathogenic | 0.8366 | pathogenic | -1.084 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/P | 0.9138 | likely_pathogenic | 0.9546 | pathogenic | -0.758 | Destabilizing | None | None | None | None | N | 0.437065353 | None | None | N |
| A/Q | 0.6611 | likely_pathogenic | 0.7943 | pathogenic | -1.321 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/R | 0.7394 | likely_pathogenic | 0.8363 | pathogenic | -1.022 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/S | 0.1342 | likely_benign | 0.1808 | benign | -1.263 | Destabilizing | None | None | None | None | N | 0.38223079 | None | None | N |
| A/T | 0.2047 | likely_benign | 0.3383 | benign | -1.269 | Destabilizing | None | None | None | None | N | 0.397314886 | None | None | N |
| A/V | 0.339 | likely_benign | 0.4996 | ambiguous | -0.758 | Destabilizing | None | None | None | None | N | 0.381652 | None | None | N |
| A/W | 0.9189 | likely_pathogenic | 0.9638 | pathogenic | -1.667 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/Y | 0.7737 | likely_pathogenic | 0.888 | pathogenic | -1.34 | 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.