Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33924 | 101995;101996;101997 | chr2:178534845;178534844;178534843 | chr2:179399572;179399571;179399570 |
| N2AB | 32283 | 97072;97073;97074 | chr2:178534845;178534844;178534843 | chr2:179399572;179399571;179399570 |
| N2A | 31356 | 94291;94292;94293 | chr2:178534845;178534844;178534843 | chr2:179399572;179399571;179399570 |
| N2B | 24859 | 74800;74801;74802 | chr2:178534845;178534844;178534843 | chr2:179399572;179399571;179399570 |
| Novex-1 | 24984 | 75175;75176;75177 | chr2:178534845;178534844;178534843 | chr2:179399572;179399571;179399570 |
| Novex-2 | 25051 | 75376;75377;75378 | chr2:178534845;178534844;178534843 | chr2:179399572;179399571;179399570 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
- RefSeq wild type amino acid: C
- RefSeq wild type transcript codon: TGT
- RefSeq wild type template codon: ACA
- Domain: Kinase-1
- Domain position: 112
- Q(SASA): 0.0853
- 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/Y | None | None | None | N | None | 0.462 | 0.774235845698 | gnomAD-4.0.0 | 6.86374E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99462E-07 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/A | 0.7769 | likely_pathogenic | 0.7565 | pathogenic | -1.753 | Destabilizing | None | None | None | None | None | None | None | None | N |
| C/D | 0.9923 | likely_pathogenic | 0.9931 | pathogenic | -1.99 | Destabilizing | None | None | None | None | None | None | None | None | N |
| C/E | 0.994 | likely_pathogenic | 0.9949 | pathogenic | -1.755 | Destabilizing | None | None | None | None | None | None | None | None | N |
| C/F | 0.8397 | likely_pathogenic | 0.822 | pathogenic | -1.137 | Destabilizing | None | None | None | None | N | 0.427291076 | None | None | N |
| C/G | 0.6773 | likely_pathogenic | 0.6415 | pathogenic | -2.103 | Highly Destabilizing | None | None | None | None | N | 0.475583668 | None | None | N |
| C/H | 0.9837 | likely_pathogenic | 0.9869 | pathogenic | -2.419 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| C/I | 0.9149 | likely_pathogenic | 0.8696 | pathogenic | -0.802 | Destabilizing | None | None | None | None | None | None | None | None | N |
| C/K | 0.9964 | likely_pathogenic | 0.9966 | pathogenic | -1.612 | Destabilizing | None | None | None | None | None | None | None | None | N |
| C/L | 0.8293 | likely_pathogenic | 0.7629 | pathogenic | -0.802 | Destabilizing | None | None | None | None | None | None | None | None | N |
| C/M | 0.9107 | likely_pathogenic | 0.8949 | pathogenic | -0.036 | Destabilizing | None | None | None | None | None | None | None | None | N |
| C/N | 0.9688 | likely_pathogenic | 0.97 | pathogenic | -2.223 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| C/P | 0.9983 | likely_pathogenic | 0.9985 | pathogenic | -1.098 | Destabilizing | None | None | None | None | None | None | None | None | N |
| C/Q | 0.9886 | likely_pathogenic | 0.9899 | pathogenic | -1.731 | Destabilizing | None | None | None | None | None | None | None | None | N |
| C/R | 0.9772 | likely_pathogenic | 0.9778 | pathogenic | -1.966 | Destabilizing | None | None | None | None | N | 0.505213142 | None | None | N |
| C/S | 0.7809 | likely_pathogenic | 0.764 | pathogenic | -2.49 | Highly Destabilizing | None | None | None | None | N | 0.463211804 | None | None | N |
| C/T | 0.8332 | likely_pathogenic | 0.8075 | pathogenic | -2.083 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| C/V | 0.8162 | likely_pathogenic | 0.7552 | pathogenic | -1.098 | Destabilizing | None | None | None | None | None | None | None | None | N |
| C/W | 0.978 | likely_pathogenic | 0.98 | pathogenic | -1.631 | Destabilizing | None | None | None | None | N | 0.452742826 | None | None | N |
| C/Y | 0.9484 | likely_pathogenic | 0.9514 | pathogenic | -1.415 | Destabilizing | None | None | None | None | N | 0.463592153 | 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.