Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33831 | 101716;101717;101718 | chr2:178535124;178535123;178535122 | chr2:179399851;179399850;179399849 |
| N2AB | 32190 | 96793;96794;96795 | chr2:178535124;178535123;178535122 | chr2:179399851;179399850;179399849 |
| N2A | 31263 | 94012;94013;94014 | chr2:178535124;178535123;178535122 | chr2:179399851;179399850;179399849 |
| N2B | 24766 | 74521;74522;74523 | chr2:178535124;178535123;178535122 | chr2:179399851;179399850;179399849 |
| Novex-1 | 24891 | 74896;74897;74898 | chr2:178535124;178535123;178535122 | chr2:179399851;179399850;179399849 |
| Novex-2 | 24958 | 75097;75098;75099 | chr2:178535124;178535123;178535122 | chr2:179399851;179399850;179399849 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
- RefSeq wild type amino acid: G
- RefSeq wild type transcript codon: GGA
- RefSeq wild type template codon: CCT
- Domain: Kinase-1
- Domain position: 19
- Q(SASA): 0.1074
- Site annotation: ATP binding
- 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/R | None | None | None | D | None | 0.756 | 0.807730076439 | gnomAD-4.0.0 | 1.20032E-05 | None | None | ATP binding | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.7923 | likely_pathogenic | 0.7284 | pathogenic | -0.799 | Destabilizing | None | None | None | None | D | 0.536742287 | ATP binding | None | N |
| G/C | 0.9416 | likely_pathogenic | 0.8937 | pathogenic | -1.197 | Destabilizing | None | None | None | None | None | None | ATP binding | None | N |
| G/D | 0.9914 | likely_pathogenic | 0.9751 | pathogenic | -1.402 | Destabilizing | None | None | None | None | None | None | ATP binding | None | N |
| G/E | 0.9924 | likely_pathogenic | 0.9795 | pathogenic | -1.43 | Destabilizing | None | None | None | None | D | 0.61359108 | ATP binding | None | N |
| G/F | 0.995 | likely_pathogenic | 0.9893 | pathogenic | -1.063 | Destabilizing | None | None | None | None | None | None | ATP binding | None | N |
| G/H | 0.9967 | likely_pathogenic | 0.9915 | pathogenic | -1.365 | Destabilizing | None | None | None | None | None | None | ATP binding | None | N |
| G/I | 0.9897 | likely_pathogenic | 0.9782 | pathogenic | -0.357 | Destabilizing | None | None | None | None | None | None | ATP binding | None | N |
| G/K | 0.9972 | likely_pathogenic | 0.9935 | pathogenic | -1.201 | Destabilizing | None | None | None | None | None | None | ATP binding | None | N |
| G/L | 0.9883 | likely_pathogenic | 0.9767 | pathogenic | -0.357 | Destabilizing | None | None | None | None | None | None | ATP binding | None | N |
| G/M | 0.9953 | likely_pathogenic | 0.9893 | pathogenic | -0.43 | Destabilizing | None | None | None | None | None | None | ATP binding | None | N |
| G/N | 0.9929 | likely_pathogenic | 0.9835 | pathogenic | -0.992 | Destabilizing | None | None | None | None | None | None | ATP binding | None | N |
| G/P | 0.9986 | likely_pathogenic | 0.9972 | pathogenic | -0.464 | Destabilizing | None | None | None | None | None | None | ATP binding | None | N |
| G/Q | 0.9921 | likely_pathogenic | 0.983 | pathogenic | -1.159 | Destabilizing | None | None | None | None | None | None | ATP binding | None | N |
| G/R | 0.9899 | likely_pathogenic | 0.9782 | pathogenic | -0.954 | Destabilizing | None | None | None | None | D | 0.597541359 | ATP binding | None | N |
| G/S | 0.8552 | likely_pathogenic | 0.7708 | pathogenic | -1.291 | Destabilizing | None | None | None | None | None | None | ATP binding | None | N |
| G/T | 0.9721 | likely_pathogenic | 0.9454 | pathogenic | -1.236 | Destabilizing | None | None | None | None | None | None | ATP binding | None | N |
| G/V | 0.9784 | likely_pathogenic | 0.9583 | pathogenic | -0.464 | Destabilizing | None | None | None | None | D | 0.61359108 | ATP binding | None | N |
| G/W | 0.9924 | likely_pathogenic | 0.9847 | pathogenic | -1.42 | Destabilizing | None | None | None | None | None | None | ATP binding | None | N |
| G/Y | 0.9951 | likely_pathogenic | 0.9883 | pathogenic | -0.999 | Destabilizing | None | None | None | None | None | None | ATP binding | 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.