Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 34019 | 102280;102281;102282 | chr2:178534560;178534559;178534558 | chr2:179399287;179399286;179399285 |
| N2AB | 32378 | 97357;97358;97359 | chr2:178534560;178534559;178534558 | chr2:179399287;179399286;179399285 |
| N2A | 31451 | 94576;94577;94578 | chr2:178534560;178534559;178534558 | chr2:179399287;179399286;179399285 |
| N2B | 24954 | 75085;75086;75087 | chr2:178534560;178534559;178534558 | chr2:179399287;179399286;179399285 |
| Novex-1 | 25079 | 75460;75461;75462 | chr2:178534560;178534559;178534558 | chr2:179399287;179399286;179399285 |
| Novex-2 | 25146 | 75661;75662;75663 | chr2:178534560;178534559;178534558 | chr2:179399287;179399286;179399285 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
- RefSeq wild type amino acid: T
- RefSeq wild type transcript codon: ACT
- RefSeq wild type template codon: TGA
- Domain: Kinase-1
- Domain position: 207
- Q(SASA): 0.3625
- 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/I | None | None | None | N | None | 0.383 | 0.33440975612 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.2731 | likely_benign | 0.3304 | benign | -0.399 | Destabilizing | None | None | None | None | N | 0.503020986 | None | None | N |
| T/C | 0.8554 | likely_pathogenic | 0.871 | pathogenic | -0.237 | Destabilizing | None | None | None | None | None | None | None | None | N |
| T/D | 0.5688 | likely_pathogenic | 0.6007 | pathogenic | -0.009 | Destabilizing | None | None | None | None | None | None | None | None | N |
| T/E | 0.5536 | ambiguous | 0.5861 | pathogenic | -0.085 | Destabilizing | None | None | None | None | None | None | None | None | N |
| T/F | 0.8679 | likely_pathogenic | 0.899 | pathogenic | -0.818 | Destabilizing | None | None | None | None | None | None | None | None | N |
| T/G | 0.4766 | ambiguous | 0.5231 | ambiguous | -0.543 | Destabilizing | None | None | None | None | None | None | None | None | N |
| T/H | 0.6473 | likely_pathogenic | 0.6901 | pathogenic | -0.831 | Destabilizing | None | None | None | None | None | None | None | None | N |
| T/I | 0.8268 | likely_pathogenic | 0.8549 | pathogenic | -0.133 | Destabilizing | None | None | None | None | N | 0.46012634 | None | None | N |
| T/K | 0.5082 | ambiguous | 0.4952 | ambiguous | -0.511 | Destabilizing | None | None | None | None | None | None | None | None | N |
| T/L | 0.591 | likely_pathogenic | 0.641 | pathogenic | -0.133 | Destabilizing | None | None | None | None | None | None | None | None | N |
| T/M | 0.4037 | ambiguous | 0.4785 | ambiguous | 0.068 | Stabilizing | None | None | None | None | None | None | None | None | N |
| T/N | 0.21 | likely_benign | 0.2358 | benign | -0.233 | Destabilizing | None | None | None | None | N | 0.422845262 | None | None | N |
| T/P | 0.5008 | ambiguous | 0.5666 | pathogenic | -0.192 | Destabilizing | None | None | None | None | N | 0.502847628 | None | None | N |
| T/Q | 0.504 | ambiguous | 0.5545 | ambiguous | -0.479 | Destabilizing | None | None | None | None | None | None | None | None | N |
| T/R | 0.478 | ambiguous | 0.5069 | ambiguous | -0.197 | Destabilizing | None | None | None | None | None | None | None | None | N |
| T/S | 0.2257 | likely_benign | 0.2519 | benign | -0.431 | Destabilizing | None | None | None | None | N | 0.422863904 | None | None | N |
| T/V | 0.67 | likely_pathogenic | 0.699 | pathogenic | -0.192 | Destabilizing | None | None | None | None | None | None | None | None | N |
| T/W | 0.9458 | likely_pathogenic | 0.9604 | pathogenic | -0.819 | Destabilizing | None | None | None | None | None | None | None | None | N |
| T/Y | 0.7723 | likely_pathogenic | 0.8215 | pathogenic | -0.559 | 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.