Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33989 | 102190;102191;102192 | chr2:178534650;178534649;178534648 | chr2:179399377;179399376;179399375 |
| N2AB | 32348 | 97267;97268;97269 | chr2:178534650;178534649;178534648 | chr2:179399377;179399376;179399375 |
| N2A | 31421 | 94486;94487;94488 | chr2:178534650;178534649;178534648 | chr2:179399377;179399376;179399375 |
| N2B | 24924 | 74995;74996;74997 | chr2:178534650;178534649;178534648 | chr2:179399377;179399376;179399375 |
| Novex-1 | 25049 | 75370;75371;75372 | chr2:178534650;178534649;178534648 | chr2:179399377;179399376;179399375 |
| Novex-2 | 25116 | 75571;75572;75573 | chr2:178534650;178534649;178534648 | chr2:179399377;179399376;179399375 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
- RefSeq wild type amino acid: H
- RefSeq wild type transcript codon: CAT
- RefSeq wild type template codon: GTA
- Domain: Kinase-1
- Domain position: 177
- Q(SASA): 0.3028
- 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| H/Y | rs1462346829  |
0.916 | None | N | None | 0.307 | 0.231231049324 | gnomAD-2.1.1 | 8.04E-06 | None | None | None | None | N | None | 0 | 5.8E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| H/Y | rs1462346829 |
0.916 | None | N | None | 0.307 | 0.231231049324 | gnomAD-4.0.0 | 4.77509E-06 | None | None | None | None | N | None | 0 | 4.5731E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.0248E-05 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| H/A | 0.493 | ambiguous | 0.5047 | ambiguous | 0.208 | Stabilizing | None | None | None | None | None | None | None | None | N |
| H/C | 0.3162 | likely_benign | 0.2954 | benign | 0.802 | Stabilizing | None | None | None | None | None | None | None | None | N |
| H/D | 0.356 | ambiguous | 0.3919 | ambiguous | 0.13 | Stabilizing | None | None | None | None | N | 0.395928019 | None | None | N |
| H/E | 0.4635 | ambiguous | 0.5132 | ambiguous | 0.151 | Stabilizing | None | None | None | None | None | None | None | None | N |
| H/F | 0.5378 | ambiguous | 0.547 | ambiguous | 0.762 | Stabilizing | None | None | None | None | None | None | None | None | N |
| H/G | 0.4382 | ambiguous | 0.4537 | ambiguous | -0.079 | Destabilizing | None | None | None | None | None | None | None | None | N |
| H/I | 0.6906 | likely_pathogenic | 0.7073 | pathogenic | 0.938 | Stabilizing | None | None | None | None | None | None | None | None | N |
| H/K | 0.3824 | ambiguous | 0.4195 | ambiguous | 0.198 | Stabilizing | None | None | None | None | None | None | None | None | N |
| H/L | 0.2723 | likely_benign | 0.3083 | benign | 0.938 | Stabilizing | None | None | None | None | N | 0.428099153 | None | None | N |
| H/M | 0.6544 | likely_pathogenic | 0.6641 | pathogenic | 0.798 | Stabilizing | None | None | None | None | None | None | None | None | N |
| H/N | 0.1159 | likely_benign | 0.1271 | benign | 0.334 | Stabilizing | None | None | None | None | N | 0.383441512 | None | None | N |
| H/P | 0.5679 | likely_pathogenic | 0.5239 | ambiguous | 0.72 | Stabilizing | None | None | None | None | N | 0.453514885 | None | None | N |
| H/Q | 0.3109 | likely_benign | 0.3529 | ambiguous | 0.425 | Stabilizing | None | None | None | None | N | 0.402894064 | None | None | N |
| H/R | 0.2095 | likely_benign | 0.2568 | benign | -0.377 | Destabilizing | None | None | None | None | N | 0.373283233 | None | None | N |
| H/S | 0.3529 | ambiguous | 0.3509 | ambiguous | 0.39 | Stabilizing | None | None | None | None | None | None | None | None | N |
| H/T | 0.502 | ambiguous | 0.4978 | ambiguous | 0.506 | Stabilizing | None | None | None | None | None | None | None | None | N |
| H/V | 0.5683 | likely_pathogenic | 0.5865 | pathogenic | 0.72 | Stabilizing | None | None | None | None | None | None | None | None | N |
| H/W | 0.573 | likely_pathogenic | 0.6085 | pathogenic | 0.747 | Stabilizing | None | None | None | None | None | None | None | None | N |
| H/Y | 0.1677 | likely_benign | 0.1753 | benign | 1.073 | Stabilizing | None | None | None | None | N | 0.419036952 | 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.