Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33873 | 101842;101843;101844 | chr2:178534998;178534997;178534996 | chr2:179399725;179399724;179399723 |
| N2AB | 32232 | 96919;96920;96921 | chr2:178534998;178534997;178534996 | chr2:179399725;179399724;179399723 |
| N2A | 31305 | 94138;94139;94140 | chr2:178534998;178534997;178534996 | chr2:179399725;179399724;179399723 |
| N2B | 24808 | 74647;74648;74649 | chr2:178534998;178534997;178534996 | chr2:179399725;179399724;179399723 |
| Novex-1 | 24933 | 75022;75023;75024 | chr2:178534998;178534997;178534996 | chr2:179399725;179399724;179399723 |
| Novex-2 | 25000 | 75223;75224;75225 | chr2:178534998;178534997;178534996 | chr2:179399725;179399724;179399723 |
| 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: 61
- Q(SASA): 0.4242
- Predicted PPI site: I
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/G | None | None | None | N | None | 0.111 | 0.281381271821 | gnomAD-4.0.0 | 1.59141E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43279E-05 | 0 |
| R/T | None | None | None | N | None | 0.095 | 0.192905019026 | gnomAD-4.0.0 | 1.59144E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 2.77316E-05 | 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 | 0.5359 | ambiguous | 0.5593 | ambiguous | -0.127 | Destabilizing | None | None | None | None | None | None | None | None | I |
| R/C | 0.3299 | likely_benign | 0.3442 | ambiguous | 0.127 | Stabilizing | None | None | None | None | None | None | None | None | I |
| R/D | 0.7688 | likely_pathogenic | 0.7355 | pathogenic | -0.008 | Destabilizing | None | None | None | None | None | None | None | None | I |
| R/E | 0.4246 | ambiguous | 0.4208 | ambiguous | 0.098 | Stabilizing | None | None | None | None | None | None | None | None | I |
| R/F | 0.83 | likely_pathogenic | 0.8236 | pathogenic | -0.032 | Destabilizing | None | None | None | None | None | None | None | None | I |
| R/G | 0.3286 | likely_benign | 0.3378 | benign | -0.42 | Destabilizing | None | None | None | None | N | 0.477989255 | None | None | I |
| R/H | 0.1901 | likely_benign | 0.1933 | benign | -1.08 | Destabilizing | None | None | None | None | None | None | None | None | I |
| R/I | 0.4889 | ambiguous | 0.5096 | ambiguous | 0.643 | Stabilizing | None | None | None | None | N | 0.477989255 | None | None | I |
| R/K | 0.11 | likely_benign | 0.1324 | benign | -0.149 | Destabilizing | None | None | None | None | N | 0.420845107 | None | None | I |
| R/L | 0.4635 | ambiguous | 0.4704 | ambiguous | 0.643 | Stabilizing | None | None | None | None | None | None | None | None | I |
| R/M | 0.4841 | ambiguous | 0.5212 | ambiguous | 0.255 | Stabilizing | None | None | None | None | None | None | None | None | I |
| R/N | 0.6723 | likely_pathogenic | 0.6618 | pathogenic | 0.356 | Stabilizing | None | None | None | None | None | None | None | None | I |
| R/P | 0.6453 | likely_pathogenic | 0.6225 | pathogenic | 0.409 | Stabilizing | None | None | None | None | None | None | None | None | I |
| R/Q | 0.1321 | likely_benign | 0.1366 | benign | 0.253 | Stabilizing | None | None | None | None | None | None | None | None | I |
| R/S | 0.5797 | likely_pathogenic | 0.6026 | pathogenic | -0.089 | Destabilizing | None | None | None | None | N | 0.423058692 | None | None | I |
| R/T | 0.3818 | ambiguous | 0.4019 | ambiguous | 0.181 | Stabilizing | None | None | None | None | N | 0.468753697 | None | None | I |
| R/V | 0.5896 | likely_pathogenic | 0.6242 | pathogenic | 0.409 | Stabilizing | None | None | None | None | None | None | None | None | I |
| R/W | 0.381 | ambiguous | 0.3578 | ambiguous | 0.089 | Stabilizing | None | None | None | None | None | None | None | None | I |
| R/Y | 0.6591 | likely_pathogenic | 0.6353 | pathogenic | 0.429 | Stabilizing | None | None | None | None | None | None | None | None | I |
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.