Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33993 | 102202;102203;102204 | chr2:178534638;178534637;178534636 | chr2:179399365;179399364;179399363 |
| N2AB | 32352 | 97279;97280;97281 | chr2:178534638;178534637;178534636 | chr2:179399365;179399364;179399363 |
| N2A | 31425 | 94498;94499;94500 | chr2:178534638;178534637;178534636 | chr2:179399365;179399364;179399363 |
| N2B | 24928 | 75007;75008;75009 | chr2:178534638;178534637;178534636 | chr2:179399365;179399364;179399363 |
| Novex-1 | 25053 | 75382;75383;75384 | chr2:178534638;178534637;178534636 | chr2:179399365;179399364;179399363 |
| Novex-2 | 25120 | 75583;75584;75585 | chr2:178534638;178534637;178534636 | chr2:179399365;179399364;179399363 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
- RefSeq wild type amino acid: S
- RefSeq wild type transcript codon: AGC
- RefSeq wild type template codon: TCG
- Domain: Kinase-1
- Domain position: 181
- Q(SASA): 0.1744
- 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/N | None | None | None | N | None | 0.25 | 0.156986980423 | gnomAD-4.0.0 | 1.59193E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86013E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.2849 | likely_benign | 0.2654 | benign | -0.682 | Destabilizing | None | None | None | None | None | None | None | None | N |
| S/C | 0.3716 | ambiguous | 0.2941 | benign | -0.539 | Destabilizing | None | None | None | None | N | 0.488190393 | None | None | N |
| S/D | 0.839 | likely_pathogenic | 0.7565 | pathogenic | -1.212 | Destabilizing | None | None | None | None | None | None | None | None | N |
| S/E | 0.92 | likely_pathogenic | 0.8924 | pathogenic | -1.096 | Destabilizing | None | None | None | None | None | None | None | None | N |
| S/F | 0.8711 | likely_pathogenic | 0.7962 | pathogenic | -0.521 | Destabilizing | None | None | None | None | None | None | None | None | N |
| S/G | 0.2888 | likely_benign | 0.2524 | benign | -1.043 | Destabilizing | None | None | None | None | N | 0.389388836 | None | None | N |
| S/H | 0.8303 | likely_pathogenic | 0.762 | pathogenic | -1.502 | Destabilizing | None | None | None | None | None | None | None | None | N |
| S/I | 0.8395 | likely_pathogenic | 0.777 | pathogenic | 0.204 | Stabilizing | None | None | None | None | N | 0.476334945 | None | None | N |
| S/K | 0.9806 | likely_pathogenic | 0.9655 | pathogenic | -0.691 | Destabilizing | None | None | None | None | None | None | None | None | N |
| S/L | 0.58 | likely_pathogenic | 0.5109 | ambiguous | 0.204 | Stabilizing | None | None | None | None | None | None | None | None | N |
| S/M | 0.7313 | likely_pathogenic | 0.6597 | pathogenic | 0.322 | Stabilizing | None | None | None | None | None | None | None | None | N |
| S/N | 0.4946 | ambiguous | 0.4194 | ambiguous | -1.112 | Destabilizing | None | None | None | None | N | 0.438702935 | None | None | N |
| S/P | 0.8707 | likely_pathogenic | 0.8446 | pathogenic | -0.055 | Destabilizing | None | None | None | None | None | None | None | None | N |
| S/Q | 0.9128 | likely_pathogenic | 0.883 | pathogenic | -1.014 | Destabilizing | None | None | None | None | None | None | None | None | N |
| S/R | 0.9672 | likely_pathogenic | 0.9462 | pathogenic | -0.848 | Destabilizing | None | None | None | None | N | 0.490363907 | None | None | N |
| S/T | 0.2594 | likely_benign | 0.2116 | benign | -0.854 | Destabilizing | None | None | None | None | N | 0.420191746 | None | None | N |
| S/V | 0.7907 | likely_pathogenic | 0.7247 | pathogenic | -0.055 | Destabilizing | None | None | None | None | None | None | None | None | N |
| S/W | 0.9117 | likely_pathogenic | 0.8718 | pathogenic | -0.72 | Destabilizing | None | None | None | None | None | None | None | None | N |
| S/Y | 0.7708 | likely_pathogenic | 0.6623 | pathogenic | -0.348 | 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.