Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33941 | 102046;102047;102048 | chr2:178534794;178534793;178534792 | chr2:179399521;179399520;179399519 |
| N2AB | 32300 | 97123;97124;97125 | chr2:178534794;178534793;178534792 | chr2:179399521;179399520;179399519 |
| N2A | 31373 | 94342;94343;94344 | chr2:178534794;178534793;178534792 | chr2:179399521;179399520;179399519 |
| N2B | 24876 | 74851;74852;74853 | chr2:178534794;178534793;178534792 | chr2:179399521;179399520;179399519 |
| Novex-1 | 25001 | 75226;75227;75228 | chr2:178534794;178534793;178534792 | chr2:179399521;179399520;179399519 |
| Novex-2 | 25068 | 75427;75428;75429 | chr2:178534794;178534793;178534792 | chr2:179399521;179399520;179399519 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
- RefSeq wild type amino acid: R
- RefSeq wild type transcript codon: AGA
- RefSeq wild type template codon: TCT
- Domain: Kinase-1
- Domain position: 129
- Q(SASA): 0.0852
- 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/T | rs762498249  |
-1.904 | None | N | None | 0.342 | 0.459642846412 | gnomAD-2.1.1 | 1.08E-05 | None | None | None | None | N | None | 1.24709E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| R/T | rs762498249 |
-1.904 | None | N | None | 0.342 | 0.459642846412 | gnomAD-3.1.2 | 2.63E-05 | None | None | None | None | N | None | 9.65E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| R/T | rs762498249 |
-1.904 | None | N | None | 0.342 | 0.459642846412 | gnomAD-4.0.0 | 7.70074E-06 | None | None | None | None | N | None | 1.01516E-04 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/A | 0.8432 | likely_pathogenic | 0.7829 | pathogenic | -1.582 | Destabilizing | None | None | None | None | None | None | None | None | N |
| R/C | 0.4858 | ambiguous | 0.4187 | ambiguous | -1.63 | Destabilizing | None | None | None | None | None | None | None | None | N |
| R/D | 0.961 | likely_pathogenic | 0.9482 | pathogenic | -1.019 | Destabilizing | None | None | None | None | None | None | None | None | N |
| R/E | 0.7957 | likely_pathogenic | 0.76 | pathogenic | -0.784 | Destabilizing | None | None | None | None | None | None | None | None | N |
| R/F | 0.886 | likely_pathogenic | 0.8621 | pathogenic | -0.731 | Destabilizing | None | None | None | None | None | None | None | None | N |
| R/G | 0.7911 | likely_pathogenic | 0.7053 | pathogenic | -1.978 | Destabilizing | None | None | None | None | D | 0.524263916 | None | None | N |
| R/H | 0.299 | likely_benign | 0.2734 | benign | -1.792 | Destabilizing | None | None | None | None | None | None | None | None | N |
| R/I | 0.702 | likely_pathogenic | 0.6541 | pathogenic | -0.444 | Destabilizing | None | None | None | None | D | 0.524263916 | None | None | N |
| R/K | 0.2095 | likely_benign | 0.1693 | benign | -1.281 | Destabilizing | None | None | None | None | N | 0.284481586 | None | None | N |
| R/L | 0.5646 | likely_pathogenic | 0.5044 | ambiguous | -0.444 | Destabilizing | None | None | None | None | None | None | None | None | N |
| R/M | 0.7082 | likely_pathogenic | 0.6533 | pathogenic | -0.94 | Destabilizing | None | None | None | None | None | None | None | None | N |
| R/N | 0.9047 | likely_pathogenic | 0.8782 | pathogenic | -1.497 | Destabilizing | None | None | None | None | None | None | None | None | N |
| R/P | 0.9551 | likely_pathogenic | 0.9543 | pathogenic | -0.809 | Destabilizing | None | None | None | None | None | None | None | None | N |
| R/Q | 0.2636 | likely_benign | 0.2331 | benign | -1.29 | Destabilizing | None | None | None | None | None | None | None | None | N |
| R/S | 0.8606 | likely_pathogenic | 0.8087 | pathogenic | -2.253 | Highly Destabilizing | None | None | None | None | N | 0.494461084 | None | None | N |
| R/T | 0.7177 | likely_pathogenic | 0.6273 | pathogenic | -1.785 | Destabilizing | None | None | None | None | N | 0.476048681 | None | None | N |
| R/V | 0.7881 | likely_pathogenic | 0.7527 | pathogenic | -0.809 | Destabilizing | None | None | None | None | None | None | None | None | N |
| R/W | 0.6181 | likely_pathogenic | 0.5455 | ambiguous | -0.287 | Destabilizing | None | None | None | None | None | None | None | None | N |
| R/Y | 0.7998 | likely_pathogenic | 0.7608 | pathogenic | -0.135 | 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.