Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 9848 | 29767;29768;29769 | chr2:178705236;178705235;178705234 | chr2:179569963;179569962;179569961 |
| N2AB | 9531 | 28816;28817;28818 | chr2:178705236;178705235;178705234 | chr2:179569963;179569962;179569961 |
| N2A | 8604 | 26035;26036;26037 | chr2:178705236;178705235;178705234 | chr2:179569963;179569962;179569961 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
- RefSeq wild type amino acid: R
- RefSeq wild type transcript codon: CGA
- RefSeq wild type template codon: GCT
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/Q | rs773444238  |
None | None | None | None | 0.85 | None | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | None | 0 | 0 | None | 0 | 1.11284E-04 | None | 3.27E-05 | None | 0 | 0 | 0 | |
| R/Q | rs773444238 |
None | None | None | None | 0.85 | None | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | None | 0 | 0 | 0 | 0 | 1.92308E-04 | None | 0 | 0 | 0 | 0 | 0 | |
| R/Q | rs773444238 |
None | None | None | None | 0.85 | None |
Arimura (2009)
| None |
HCM 
|
het | None | None | Increases binding of TTN to CARP (Co-IP assay); alters subcellular localisation of CARP (Myc-tag); co-segregation within family (n = 2, 2 affected (total 3)) | None | None | None | None | None | None | None | None | None | None | None | |
| R/Q | rs773444238 |
None | None | None | None | 0.85 | None | gnomAD-4.0.0 | 1.79725E-05 | None | None | None | None | None | 0 | 0 | None | 0 | 2.00597E-04 | None | 0 | 1.6442E-04 | 1.27147E-05 | 3.29533E-05 | 1.60123E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/A | 0.9962 | likely_pathogenic | 0.9863 | pathogenic | None | None | None | None | None | None | None | None | None | None | |
| R/C | 0.9867 | likely_pathogenic | 0.968 | pathogenic | None | None | None | None | None | None | None | None | None | None | |
| R/D | 0.9982 | likely_pathogenic | 0.9955 | pathogenic | None | None | None | None | None | None | None | None | None | None | |
| R/E | 0.9868 | likely_pathogenic | 0.958 | pathogenic | None | None | None | None | None | None | None | None | None | None | |
| R/F | 0.9984 | likely_pathogenic | 0.996 | pathogenic | None | None | None | None | None | None | None | None | None | None | |
| R/G | 0.9886 | likely_pathogenic | 0.9691 | pathogenic | None | None | None | None | None | None | None | None | None | None | |
| R/H | 0.9075 | likely_pathogenic | 0.7314 | pathogenic | None | None | None | None | None | None | None | None | None | None | |
| R/I | 0.9964 | likely_pathogenic | 0.9867 | pathogenic | None | None | None | None | None | None | None | None | None | None | |
| R/K | 0.8408 | likely_pathogenic | 0.6416 | pathogenic | None | None | None | None | None | None | None | None | None | None | |
| R/L | 0.9853 | likely_pathogenic | 0.9632 | pathogenic | None | None | None | None | None | None | None | None | None | None | |
| R/M | 0.9972 | likely_pathogenic | 0.9881 | pathogenic | None | None | None | None | None | None | None | None | None | None | |
| R/N | 0.9981 | likely_pathogenic | 0.9943 | pathogenic | None | None | None | None | None | None | None | None | None | None | |
| R/P | 0.9959 | likely_pathogenic | 0.9898 | pathogenic | None | None | None | None | None | None | None | None | None | None | |
| R/Q | 0.9093 | likely_pathogenic | 0.6884 | pathogenic | None | None | None | None | None | None | None | None | None | None | |
| R/S | 0.9967 | likely_pathogenic | 0.9893 | pathogenic | None | None | None | None | None | None | None | None | None | None | |
| R/T | 0.9961 | likely_pathogenic | 0.9812 | pathogenic | None | None | None | None | None | None | None | None | None | None | |
| R/V | 0.9967 | likely_pathogenic | 0.9884 | pathogenic | None | None | None | None | None | None | None | None | None | None | |
| R/W | 0.955 | likely_pathogenic | 0.9099 | pathogenic | None | None | None | None | None | None | None | None | None | None | |
| R/Y | 0.9941 | likely_pathogenic | 0.9861 | pathogenic | None | None | None | None | None | None | None | None | None | None |
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.